Publications by authors named "Joseph Jankovic"

561 Publications

Antiglutamic Acid Decarboxylase 65 Antibody-Associated Hemiataxia.

Neurol Clin Pract 2021 Aug;11(4):e564-e566

Parkinson's Disease Center and Movement Disorders Clinic, Department of Neurology, Baylor College of Medicine, Houston, TX.

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http://dx.doi.org/10.1212/CPJ.0000000000000939DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8382435PMC
August 2021

Duration and onset of effect of incobotulinumtoxinA for the treatment of blepharospasm in botulinum toxin-naïve subjects.

Curr Med Res Opin 2021 Aug 24:1-8. Epub 2021 Aug 24.

Parkinson's Disease Center and Movement Disorders Clinic, Department of Neurology, Baylor College of Medicine, Houston, TX, USA.

Objective: Blepharospasm is a focal dystonia whereby excessive eyelid muscle contractions cause involuntary eye closure. Botulinum neurotoxin type A (BoNT-A) injections are an approved treatment. This randomized placebo-controlled trial (NCT01896895; EudraCT number 2012-004821-26) assessed the efficacy, safety, and treatment effect duration of incobotulinumtoxinA (Xeomin, Merz Pharmaceuticals GmbH), a BoNT-A formulation without complexing proteins, in BoNT-A-naïve adults with blepharospasm.

Methods: Subjects received incobotulinumtoxinA 50 U, 25 U (total dose) or placebo during a main study period (MP; 6-20 weeks). Patients needing a second injection received incobotulinumtoxinA ≤70 U in an open-label extension period (EP; 6-20 weeks). Treatment effect durations were time from first injection to EP injection or final MP visit and from EP injection to end-of-study visit. Times to effect onset and to waning of effect (MP) were time from injection to first subject-assessed onset effect and time from injection to subject-reported waning of effect, respectively.

Results: Of 61 subjects, 39 entered the EP. During the MP, median duration of treatment effect was longer with incobotulinumtoxinA 50 U (20 weeks) versus incobotulinumtoxinA 25 U (11 weeks) or placebo (6 weeks). Median duration of treatment effect was 20 weeks during the EP. Median time to effect onset was 5, 7, and 14 days with 50 U, 25 U, and placebo, respectively ( = .022 for 50 U versus placebo). Median time to waning of treatment effect was comparable between groups.

Conclusion: Subjects reported an effect onset from 5 days after injection lasting up to 20 weeks (maximum observation period). Data indicate that incobotulinumtoxinA re-treatment of blepharospasm may not be required at fixed 12-week intervals and provide evidence for a patient-tailored approach.
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http://dx.doi.org/10.1080/03007995.2021.1965975DOI Listing
August 2021

Tremor Syndromes: An Updated Review.

Front Neurol 2021 26;12:684835. Epub 2021 Jul 26.

Parkinson's Disease Center and Movement Disorders Clinic, Department of Neurology, Baylor College of Medicine, Houston, TX, United States.

Tremor is the most commonly encountered movement disorder in clinical practice. A wide range of pathologies may manifest with tremor either as a presenting or predominant symptom. Considering the marked etiological and phenomenological heterogeneity, it would be desirable to develop a classification of tremors that reflects their underlying pathophysiology. The tremor task force of the International Parkinson Disease and Movement Disorders Society has worked toward this goal and proposed a new classification system. This system has remained a prime topic of scientific communications on tremor in recent times. The new classification is based on two axes: 1. based on the clinical features, history, and tremor characteristics and 2. based on the etiology of tremor. In this article, we discuss the key aspects of the new classification, review various tremor syndromes, highlight some of the controversies in the field of tremor, and share the potential future perspectives.
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http://dx.doi.org/10.3389/fneur.2021.684835DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8350038PMC
July 2021

A Multi-center Genome-wide Association Study of Cervical Dystonia.

Mov Disord 2021 Jul 28. Epub 2021 Jul 28.

Department of Neurology, University of Lübeck, Lübeck, Germany.

Background: Several monogenic causes for isolated dystonia have been identified, but they collectively account for only a small proportion of cases. Two genome-wide association studies have reported a few potential dystonia risk loci; but conclusions have been limited by small sample sizes, partial coverage of genetic variants, or poor reproducibility.

Objective: To identify robust genetic variants and loci in a large multicenter cervical dystonia cohort using a genome-wide approach.

Methods: We performed a genome-wide association study using cervical dystonia samples from the Dystonia Coalition. Logistic and linear regressions, including age, sex, and population structure as covariates, were employed to assess variant- and gene-based genetic associations with disease status and age at onset. We also performed a replication study for an identified genome-wide significant signal.

Results: After quality control, 919 cervical dystonia patients compared with 1491 controls of European ancestry were included in the analyses. We identified one genome-wide significant variant (rs2219975, chromosome 3, upstream of COL8A1, P-value 3.04 × 10 ). The association was not replicated in a newly genotyped sample of 473 cervical dystonia cases and 481 controls. Gene-based analysis identified DENND1A to be significantly associated with cervical dystonia (P-value 1.23 × 10 ). One low-frequency variant was associated with lower age-at-onset (16.4 ± 2.9 years, P-value = 3.07 × 10 , minor allele frequency = 0.01), located within the GABBR2 gene on chromosome 9 (rs147331823).

Conclusion: The genetic underpinnings of cervical dystonia are complex and likely consist of multiple distinct variants of small effect sizes. Larger sample sizes may be needed to provide sufficient statistical power to address the presumably multi-genic etiology of cervical dystonia. © 2021 International Parkinson and Movement Disorder Society.
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http://dx.doi.org/10.1002/mds.28732DOI Listing
July 2021

Tourette Syndrome and Driving.

Mov Disord Clin Pract 2021 Jul 5;8(5):763-768. Epub 2021 May 5.

Department of Neurology, Parkinson's Disease Center and Movement Disorders Clinic Baylor College of Medicine Houston Texas USA.

Background: Driving ability may be impaired in patients with various movement disorders, but it has not been studied in patients with Tourette syndrome (TS).

Cases: We describe a series of 6 patients from our large cohort of TS patients followed in our movement disorders clinic in whom severe tics have had interfered with their driving abilities. The motor tics involved facial muscles and caused visual impairment because of frequent blinking and transient blepharospasm (dystonic tic), but complex limb and truncal tics also seriously impacted their driving.

Conclusions: Although majority of patients with TS have no functional impairment, severe motor tics in some patients may adversely affect their driving ability, potentially causing danger to themselves and others. Screening for such troublesome tics should be considered in patients with TS, particularly in teenagers who are being evaluated for driver's licensing.
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http://dx.doi.org/10.1002/mdc3.13225DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8287170PMC
July 2021

Pilot Study to Evaluate Pimavanserin for the Treatment of Motor and Behavioral Symptoms of Tourette Syndrome.

Mov Disord Clin Pract 2021 Jul 7;8(5):694-700. Epub 2021 Apr 7.

Department of Neurology Parkinson's Disease Center and Movement Disorders Clinic, Baylor College of Medicine Houston Texas USA.

Background: Pimavanserin is a serotonin 2A receptor inverse agonist and antagonist used for the treatment of hallucinations and delusions in Parkinson's disease psychosis. Numerous studies support a modulatory role of serotonin in Tourette syndrome (TS).

Objectives: To determine whether or not pimavanserin affects TS symptoms.

Methods: In this open-label study of TS adult patients, pimavanserin was titrated to 34 mg/day over 1 week and continued for an additional 7 weeks followed by a 2-week washout. Tic severity, the primary outcome measure, was assessed by the Yale Global Tic Severity Scale Total Tic Severity score (YGTSS-TTS). Secondary outcome measures included changes in the Yale-Brown Obsessive Compulsive Scale (Y-BOCS), the Tourette Syndrome Clinical Global Impression of Change (TS-CGIC), the Tourette Syndrome-Patient Global Impression of Impact (TS-PGII), and the Gilles de la Tourette Syndrome - Quality of Life scale (GTS-QOL).

Results: We enrolled 12 patients, but 2 dropped out after week 2 due to non-serious side effects. In the 10 patients, mean (standard deviation (SD)) age 34 (12.9) who completed the study the mean (SD) baseline YGTSS-TTS was 34 (9.3). This decreased by 3.6 (4.9) points at week 8, a 12% reduction in tic severity ( = 0.03). This improvement is small and may not be clinically important. Significant improvement was noted in the TS-CGIC, TS-PGII and GTS-QO. No serious adverse events were reported.

Conclusions: The results of this study suggest that pimavanserin is safe and associated with improvement in motor and non-motor TS symptoms. These findings warrant further study by a larger, placebo-controlled, trial.
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http://dx.doi.org/10.1002/mdc3.13207DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8287163PMC
July 2021

Beyond tics: movement disorders in patients with Tourette syndrome.

J Neural Transm (Vienna) 2021 Aug 23;128(8):1177-1183. Epub 2021 Jul 23.

Department of Neurology, Parkinson's Disease Center and Movement Disorders Clinic, Baylor College of Medicine, Houston, TX, USA.

Background: Tics are the hallmark of Tourette syndrome (TS). However, TS patients may have a particular vulnerability to develop other movement disorders (MDs), such as dystonia, chorea, stereotypy, and other hyperkinetic disorders that may be wrongly attributed to tics.

Materials And Methods: We studied a cohort of 201 patients with motor and phonic tics associated with TS to determine if they have additional, co-existent, MDs.

Results: There were 67 (33.3%) patients with comorbid non-tic MDs. Phenomenology-wise, piano-playing movements resembling chorea or myoclonus, were the most common non-tic movement, observed in 11% of cases, followed by stereotypies (8.0%), tremor, dystonia and parkinsonism, 5.0% each. Drug-induced was the most common etiology (6.0%), followed by functional movement disorders (5.0%) and tardive phenomena (5.0%). No clear etiology was identified in most patients. Piano-playing movements, were associated with a younger age at onset (P = 0.004) and younger age at presentation (P < 0.001). Patients with drug-induced movements and tardive phenomena had a lower frequency of craniofacial tics. FMDs, and idiopathic MDS showed no specific associations with TS. Tic severity was not a predictor of any co-existent MD.

Conclusion: About a third of patients with TS present with comorbid MDs which should be differentiated and distinguished from tics as their etiopathogenesis and treatment may be different.
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http://dx.doi.org/10.1007/s00702-021-02386-0DOI Listing
August 2021

Predictive modeling of spread in adult-onset isolated dystonia: Key properties and effect of tremor inclusion.

Eur J Neurol 2021 Jul 22. Epub 2021 Jul 22.

Department of Medicine, University of Alberta, Edmonton, Alberta, Canada.

Background And Purpose: Several clinical and demographic factors relate to anatomic spread of adult-onset isolated dystonia, but a predictive model is still lacking. The aims of this study were: (i) to develop and validate a predictive model of anatomic spread of adult-onset isolated dystonia; and (ii) to evaluate whether presence of tremor associated with dystonia influences model predictions of spread.

Methods: Adult-onset isolated dystonia participants with focal onset from the Dystonia Coalition Natural History Project database were included. We developed two prediction models, one with dystonia as sole disease manifestation ("dystonia-only") and one accepting dystonia OR tremor in any body part as disease manifestations ("dystonia OR tremor"). Demographic and clinical predictors were selected based on previous evidence, clinical plausibility of association with spread, or both. We used logistic regressions and evaluated model discrimination and calibration. Internal validation was carried out based on bootstrapping.

Results: Both predictive models showed an area under the curve of 0.65 (95% confidence intervals 0.62-0.70 and 0.62-0.69, respectively) and good calibration after internal validation. In both models, onset of dystonia in body regions other than the neck, older age, depression and history of neck trauma were predictors of spread.

Conclusions: This predictive modeling of spread in adult-onset isolated dystonia based on accessible predictors (demographic and clinical) can be easily implemented to inform individuals' risk of spread. Because tremor did not influence prediction of spread, our results support the argument that tremor is a part of the dystonia syndrome, and not an independent or coincidental disorder.
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http://dx.doi.org/10.1111/ene.15031DOI Listing
July 2021

Exploring the role of botulinum toxin in critical care.

Expert Rev Neurother 2021 Aug 9;21(8):881-894. Epub 2021 Aug 9.

Department of Neurology, Parkinson's Disease Center and Movement Disorders Clinic, Baylor College of Medicine, Houston, Texas, USA.

Introduction: Botulinum neurotoxin (BoNT) is one of the most potent and extensively studied neurotoxins with clinical applications across several different medical specialties. This review article explores the latest evidence for therapeutic applications of BoNT in patients receiving critical management in an intensive care unit (ICU).

Areas Covered: The authors did a literature search in PubMed, Google Scholar, and Texas Medical Center Library database for studies describing the use of BoNT in a critical care setting. They extracted information on study design, patient selection, methodology, and results of relevant studies. Based on initial identification of 85 studies and after conducting screening, the authors identified 61 studies to be included in this review. In an ICU setting, BoNT has been used for several neurological and non-neurological indications. However, the supporting evidence is mostly limited to small observational studies.

Expert Opinion: The use of BoNT in this setting is largely underutilized due to paucity of well-designed clinical trials and financial barriers. Further research is needed to provide evidence for the safety and efficacy of BoNT and to optimize the dosing and injection techniques for various conditions encountered in this setting.
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http://dx.doi.org/10.1080/14737175.2021.1958678DOI Listing
August 2021

Does Raising the Arms Modify Head Tremor Severity in Cervical Dystonia?

Tremor Other Hyperkinet Mov (N Y) 2021 06 23;11:21. Epub 2021 Jun 23.

Institute for Neural Computation, University of California, San Diego, La Jolla, CA, USA.

Background: A defining characteristic of dystonia is its position-dependence. In cervical dystonia (CD), sensory tricks ameliorate head tremor (HT). But it remains unknown whether raising the arms alone has the same impact.

Methods: We analyzed data collected from patients enrolled by the Dystonia Coalition. For 120 patients with HT, we assessed how raising their arms without touching their head changed their HT severity.

Results: Forty-eight out of 120 patients exhibited changes in HT severity when raising their arms. These patients were more likely to exhibit decreases in HT severity (N = 35) than increases (N = 13, χ (1, N = 48) = 10.1, p = 0.002). Demographic factors and sensory trick efficacy were not significant predictors of whether HT severity changed when raising their arms.

Discussion: Raising the arms without touching the head is a posture that can reduce HT severity in some CD patients. Our results extend the concept of position-dependent motor symptoms in CD to include the position of the arms.

Highlights: Head tremor (HT) is a prevalent symptom of cervical dystonia (CD) that can often be disabling. This study demonstrates that raising the arms without touching the head is a posture that can reduce HT severity in some CD patients. Our findings also identify a novel form of position-dependence in CD.
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http://dx.doi.org/10.5334/tohm.623DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8231450PMC
June 2021

Clinical-Instrumental patterns of neurodegeneration in Essential Tremor: A data-driven approach.

Parkinsonism Relat Disord 2021 Jun 14;87:124-129. Epub 2021 May 14.

University of Catania, Department "G.F. Ingrassia", Section of Neurosciences, Catania, Italy. Electronic address:

Introduction: Essential Tremor (ET) is increasingly recognized as a complex disorder with additional clinical signs other than tremor. It is still unknown whether a unique pathophysiologic or neurodegenerative process underlies progression and prognosis of the disease. The aim of the study was to identify ET phenotypes through a clinical-instrumental data-driven approach and to characterize possible patterns of neurodegeneration.

Methods: ET patients were categorized using spatio-temporal and kinematic variables related to mobility and dynamic stability processed by motion transducers. Differences between the identified groups in clinical-demographic variables, neuropsychological performances and retinal parameters by Optical Coherence Tomography (OCT) segmentation analysis were tested.

Results: Twenty-five ET patients were studied. Based on clustering of kinematic and spatio-temporal gait parameters, two independent groups were identified: cluster "A" (N = 15) and cluster "B" (N = 10). Compared to group A, group B had overall worse performance in mobility, especially on turning tasks. Identified clusters did not differ in terms of age, age at onset and disease duration. Patients in group B had more head tremor and more severe action tremor in the upper limbs as compared to group A, demonstrating also worse performances on cognitive assessments. Based on OCT analysis, group B presented a reduced thickness of the retinal inner layer as compared to group A, suggesting underlying neurodegenerative processes.

Conclusions: The presence of gait and mobility impairment, associated with midline tremor, cognitive decline and retinal degeneration suggests a subtype of ET associated with neurodegeneration.
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http://dx.doi.org/10.1016/j.parkreldis.2021.05.011DOI Listing
June 2021

Genome-Wide Association Study Meta-Analysis for Parkinson Disease Motor Subtypes.

Neurol Genet 2021 Apr 28;7(2):e557. Epub 2021 Jan 28.

Department of Neurology (I.A.-D., E.H., L.L., A.S., E.Y., A.K., J.J., J.M.S.), Baylor College of Medicine, Houston, TX; Department of Pediatrics (R.A.-O., Z.L.), Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute (R.A.-O., Z.L., J.M.S.), Texas Childrens Hospital, Houston, TX; Department of Neurology (R.C., L.M.S.), University of Maryland School of Medicine, Baltimore, MD; Molecular Genetics Section (C.B., D.H., M.N., A.B.S.), Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD; Department of Clinical and Movement Neurosciences (M.T., H.M.), UCL Queen Square Institute of Neurology, University College London, London, UK; UCL Movement Disorders Centre (M.T., H.M.), UCL Queen Square Institute of Neurology, University College London, London, UK; Montreal Neurological Institute (C.L., G.A.R.), Montréal, Quebec, Canada; Department of Human Genetics (C.L., G.A.R.), McGill University, Montréal, Quebec, Canada; Department of Neurology (L.P.), Oslo University Hospital, Oslo, Norway; Department of Neurology (D.G.), Institute of Neurological Sciences, Queen Elizabeth University Hospital, Glasgow, UK; Department of Neurology and Neurosurgery (G.A.R.), McGill University, Montréal, Quebec, Canada; Data Tecnica International (M.N.), Glen Echo, MD; Parkinsons Disease Center and Movement Disorders Clinic (J.J., J.M.S.), Department of Neurology, Baylor College of Medicine, Houston, TX; Department of Molecular & Human Genetics (J.M.S.), Baylor College of Medicine, Houston, TX; and Department of Neuroscience (J.M.S.), Baylor College of Medicine, Houston, TX.

Objective: To discover genetic determinants of Parkinson disease (PD) motor subtypes, including tremor dominant (TD) and postural instability/gait difficulty (PIGD) forms.

Methods: In 3,212 PD cases of European ancestry, we performed a genome-wide association study (GWAS) examining 2 complementary outcome traits derived from the Unified Parkinson's Disease Rating Scale, including dichotomous motor subtype (TD vs PIGD) or a continuous tremor/PIGD score ratio. Logistic or linear regression models were adjusted for sex, age at onset, disease duration, and 5 ancestry principal components, followed by meta-analysis.

Results: Among 71 established PD risk variants, we detected multiple suggestive associations with PD motor subtype, including (, = 0.01, = 0.03), (, = 0.02, = 0.01), (, = 0.02), (, = 0.02), and (, = 0.02). A PD genetic risk score integrating all 71 PD risk variants was also associated with subtype ratio ( = 0.026, ß = -0.04, 95% confidence interval = -0.07-0). Based on top results of our GWAS, we identify a novel suggestive association at the locus (rs2301857, = 6.6 × 10), which harbors an independent risk allele for essential tremor.

Conclusions: Multiple PD risk alleles may also modify clinical manifestations to influence PD motor subtype. The discovery of a novel variant at suggests a possible overlap between genetic risk for essential tremor and tremor-dominant PD.
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http://dx.doi.org/10.1212/NXG.0000000000000557DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8112852PMC
April 2021

Gene-Environment Interactions in Progressive Supranuclear Palsy.

Front Neurol 2021 9;12:664796. Epub 2021 Apr 9.

Parkinson's Disease Center and Movement Disorders Clinic, Department of Neurology, Baylor College of Medicine, Houston, TX, United States.

Several genetic and environmental factors have been reported in progressive supranuclear palsy (PSP), although none were identified as a definitive cause. We aimed to explore potential gene-environment interactions in PSP. Two hundred and ninety two PSP cases and 292 controls matched for age, sex, and race from the ENGENE-PSP were analyzed to determine the association between PSP and minor alleles of 5 single nucleotide polymorphisms (SNPs) in 4 genes (MAPT, MOBP, EIF2AK3, and STX6), which were previously associated with PSP risk. Interactions between these SNPs and environmental factors, including previously reported occupational and agricultural risk factors for PSP, were assessed for PSP odds and age of symptom onset. Minor alleles of MAPTrs242557 and EIF2AK3rs7571971 were individually associated with increased odds; MAPTrs8070723 minor alleles were associated with lower PSP odds. There were several gene-environment interactions for PSP odds and age of symptom onset, however, they did not remain significant after FDR-correction. Larger scale studies are required to determine potential interactions.
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http://dx.doi.org/10.3389/fneur.2021.664796DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8062875PMC
April 2021

Long-term efficacy and safety of botulinum toxin treatment for cervical dystonia: a critical reappraisal.

Expert Opin Drug Saf 2021 Jun 28;20(6):695-705. Epub 2021 Jun 28.

Department of Neurology, Santa Maria University Hospital, Terni, Italy.

Botulinum toxin (BoNT) injections represent the gold standard treatment for cervical dystonia (CD). Different types of BoNT have been used for the treatment of CD, but only two serotypes, BoNT type A (BoNT-A) and type B (BoNT-B), have been approved by regulatory agencies. Efficacy and safety of BoNT have been well documented by many short-term studies, but the longterm effects have been investigated only relatively recently. In the present review, we aimed to critically reappraise the existing evidence on the long-term efficacy and safety of BoNT treatment in CD. The examined studies mainly explored BoNT-A serotypes. Only a few studies examined the long-term effects of BoNT-B serotypes, and only one head-to-head comparison between BoNT-A and BoNT-B was found. BoNT was consistently reported to be an effective and safe treatment for CD patients, with good outcomes and a few adverse events in the long-term. However about a third of patients still drop out from the treatment during a long-term follow-up. We conclude that BoNT is safe and effective in the long-term treatment of patients with CD. Additional studies are needed to further explore patients real-life experiences and perspectives to better understand the long-term outcomes and reasons for discontinuation of treatment.
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http://dx.doi.org/10.1080/14740338.2021.1915282DOI Listing
June 2021

Phenotypic Features of Isolated Essential Tremor, Essential Tremor Plus, and Essential Tremor-Parkinson's Disease in a Movement Disorders Clinic.

Tremor Other Hyperkinet Mov (N Y) 2021 03 29;11:12. Epub 2021 Mar 29.

Parkinson's Disease Center and Movement Disorders Clinic, Department of Neurology, Baylor College of Medicine, Houston, TX.

Background: Patients with essential tremor were initially considered to have isolated tremor, but additional motor and non-motor features have been increasingly recognized. The term "essential tremor plus" was adopted by the Task Force on Tremor of the International Parkinson and Movement Disorder Society to describe essential tremor patients with additional neurologic signs.

Objectives: To characterize essential tremor patients and their phenotypes in a movement disorders clinic population in the context of the new tremor classification.

Methods: Demographic, clinical, historical, treatment, and diagnostic data were retrospectively collected on 300 patients diagnosed by movement disorder experts with essential tremor. Patients were classified as having essential tremor, essential tremor plus, or essential tremor-Parkinson's disease combination, and features between these groups were compared.

Results: Of the 300 patients, 20.7% were classified as isolated essential tremor, 53.3% as essential tremor plus, and 26.0% as essential tremor-Parkinson's disease. There was no significant difference in the duration of tremor symptoms. Essential tremor plus patients were more likely to have dystonia, tandem gait abnormalities, head tremor and greater tremor severity. Essential tremor-Parkinson's disease patients were more likely to have RBD symptoms. There was no significant difference in cognitive impairment between essential tremor plus and essential tremor-Parkinson's disease patients.

Conclusions: Additional motor and non-motor features, including parkinsonism, are common in patients with essential tremor. Further studies are needed to clarify essential tremor phenotypes and to provide insights into possible subtypes.

Highlights: 300 patients with essential tremor from a movement disorders clinic were re-classified based on the Movement Disorder Society Consensus Statement on the Classification of Tremors. Additional motor and non-motor features, including parkinsonism, were common, and only 20.7% of patients remained classified as isolated essential tremor.
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http://dx.doi.org/10.5334/tohm.581DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8015706PMC
March 2021

Worldwide barriers to genetic testing for movement disorders.

Eur J Neurol 2021 06 9;28(6):1901-1909. Epub 2021 Apr 9.

Departments of Neurology, Human Genetics and Pediatrics, Emory University, Atlanta, GA, USA.

Background And Purpose: Despite enormous advances in identifying genetic variants responsible for many neurological diseases, access to genetic testing may be limited in clinical practice. The objective of this study was to assess worldwide access to genetic tests for movement disorders and factors impacting their utilization.

Methods: The Rare Movement Disorders Study Group of the International Parkinson and Movement Disorder Society designed an online survey electronically mailed to all 7815 members.

Results: Survey data completed by 1269 participants from 109 countries were analysed. Limited access to geneticists and genetic counsellors was reported in many world regions compared to Europe and North America. Availability of genetic testing was limited, with rates of access lower than 50%. Genetic testing for chorea was the most commonly available. For parkinsonism, dystonia, ataxia, hereditary spastic paraplegias and metabolic disorders, there was limited access to genetic testing in all countries compared to Europe and North America, with significant differences found for Africa, Central/South America, Asia. In many regions, genetic testing was supported by either private or public funding. Genetic testing was free of charge in Europe according to 63.5% of respondents. In North America, Africa, Central/South America, Asia and the Middle East access to free of charge genetic testing was by far significantly lower compared to Europe.

Conclusions: This survey highlights difficulties in accessing genetic testing and individuals with expertise in genetics at the worldwide level. In addition, major disparities in genetic testing amongst world regions are highlighted, probably due to a variety of factors including financial barriers.
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http://dx.doi.org/10.1111/ene.14826DOI Listing
June 2021

Botulinum Neurotoxin Injections in Childhood Opisthotonus.

Toxins (Basel) 2021 02 12;13(2). Epub 2021 Feb 12.

Parkinson's Disease Center and Movement Disorders Clinic, Department of Neurology, Baylor College of Medicine, Houston, TX 77030, USA.

Opisthotonus refers to abnormal axial extension and arching of the trunk produced by excessive contractions of the paraspinal muscles. In childhood, the abnormal posture is most often related to dystonia in the setting of hypoxic injury or a number of other acquired and genetic etiologies. The condition is often painful, interferes with ambulation and quality of life, and is challenging to treat. Therapeutic options include oral benzodiazepines, oral and intrathecal baclofen, botulinum neurotoxin injections, and deep brain stimulation. Management of opisthotonus within the pediatric population has not been systematically reviewed. Here, we describe a series of seven children who presented to our institution with opisthotonus in whom symptom relief was achieved following administration of botulinum neurotoxin injections.
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http://dx.doi.org/10.3390/toxins13020137DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7918608PMC
February 2021

Recent advances in understanding and treatment of Parkinson's disease.

Fac Rev 2020 10;9. Epub 2020 Nov 10.

Parkinson's Disease Center and Movement Disorder Clinic, Department of Neurology, Baylor College of Medicine, 7200 Cambridge, Suite 9A, Houston, TX 77030-4202, USA.

Though primarily a sporadic condition, Parkinson's disease is increasingly recognized to be a multifactorial disease with a strong genetic component. At a cellular level, disruptions of protein trafficking and recycling, particularly by misfolding, accumulation, and aggregation of α-synuclein, mitochondrial dysfunction, oxidative stress, and other etiopathogenic mechanisms, have been found to result in the death of vulnerable neuronal populations and appear to drive the neurodegeneration underlying Parkinson's disease. The improved understanding of these mechanisms has led to the development of novel pathogenesis-targeted and potentially disease-modifying therapeutic approaches in Parkinson's disease. Until these treatments are fully developed and approved, clinicians must rely on therapies designed to improve quality of life of patients by treating various motor and non-motor symptoms of the disease.
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http://dx.doi.org/10.12703/b/9-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7886054PMC
November 2020

Impulse Control Disorders in Parkinson's Disease: Epidemiology, Pathogenesis and Therapeutic Strategies.

Front Psychiatry 2021 9;12:635494. Epub 2021 Feb 9.

Department of Neurology, Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.

Impulse control disorders (ICDs) in Parkinson's disease (PD) are aberrant behavior such as pathological gambling, hypersexuality, binge eating, and compulsive buying, which typically occur as a result of dopaminergic therapy. Numerous studies have focused on the broad spectrum of ICDs-related behaviors and their tremendous impact on patients and their family members. Recent advances have improved our understanding of ICDs. In this review, we discuss the epidemiology, pathogenesis and treatment of ICDs in the setting of PD.
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http://dx.doi.org/10.3389/fpsyt.2021.635494DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7900512PMC
February 2021

Quantitative mobility measures complement the MDS-UPDRS for characterization of Parkinson's disease heterogeneity.

Parkinsonism Relat Disord 2021 03 10;84:105-111. Epub 2021 Feb 10.

Parkinson's Disease Center and Movement Disorders Clinic, Department of Neurology, Baylor College of Medicine, Houston, TX, 77030, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA; Department of Neuroscience, Baylor College of Medicine, Houston, TX, 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, 77030, USA; Center for Alzheimer's and Neurodegenerative Diseases, Baylor College of Medicine, Houston, TX, 77030, USA. Electronic address:

Introduction: Emerging technologies show promise for enhanced characterization of Parkinson's Disease (PD) motor manifestations. We evaluated quantitative mobility measures from a wearable device compared to the conventional motor assessment, the Movement Disorders Society-Unified PD Rating Scale part III (motor MDS-UPDRS).

Methods: We evaluated 176 PD subjects (mean age 65, 65% male, 66% H&Y stage 2) during routine clinic visits using the motor MDS-UPDRS and a 10-min motor protocol with a body-fixed sensor (DynaPort MT, McRoberts BV), including the 32-ft walk, Timed Up and Go (TUG), and standing posture with eyes closed. Regression models examined 12 quantitative mobility measures for associations with (i) motor MDS-UPDRS, (ii) motor subtype (tremor dominant vs. postural instability/gait difficulty), (iii) Montreal Cognitive Assessment (MoCA), and (iv) physical functioning disability (PROMIS-29). All analyses included age, gender, and disease duration as covariates. Models iii-iv were secondarily adjusted for motor MDS-UPDRS.

Results: Quantitative mobility measures from gait, TUG transitions, turning, and posture were significantly associated with motor MDS-UPDRS (7 of 12 measures, p < 0.05) and motor subtype (6 of 12 measures, p < 0.05). Compared with motor MDS-UPDRS, several quantitative mobility measures accounted for a 1.5- or 1.9-fold increased variance in either cognition or physical functioning disability, respectively. Among minimally-impaired subjects in the bottom quartile of motor MDS-UPDRS, including subjects with normal gait exam, the measures captured substantial residual motor heterogeneity.

Conclusion: Clinic-based quantitative mobility assessments using a wearable sensor captured features of motor performance beyond those obtained with the motor MDS-UPDRS and may offer enhanced characterization of disease heterogeneity.
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http://dx.doi.org/10.1016/j.parkreldis.2021.02.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7987213PMC
March 2021

Quality of life in isolated dystonia: non-motor manifestations matter.

J Neurol Neurosurg Psychiatry 2021 Feb 9. Epub 2021 Feb 9.

Department of Neurology, University of Luebeck, Luebeck, Germany

Objective: To evaluate the relationship between health-related quality of life (HR-QoL) and both physical and psychiatric factors in a large, international, multicentre cohort of patients with isolated dystonia, the Dystonia Coalition.

Methods: Natural history data from 603 patients with isolated dystonia (median age 57 years (IQR: 48 to 64 years), 67.0% women) were prospectively acquired and analysed. HR-QoL (RAND 36-Item Health Survey), severity of depressive symptoms, generalised anxiety (Hospital Anxiety and Depression Scale) and social anxiety (Liebowitz Social Anxiety Scale) were assessed. Dystonia severity (Burke-Fahn-Marsden Dystonia Rating Scale) and dystonic tremor were examined. Statistical predictors of HR-QoL were calculated using saturated path analysis.

Results: Reduced HR-QoL was strongly associated with the degree of depressive symptoms and generalised and social anxiety (8/8 RAND 36 subscales, p≤0.001). Increased dystonia severity was associated with worse physical functioning, physical and emotional role functioning and social functioning (all p≤0.001). The presence of tremor correlated with worse physical functioning and pain (all p≤0.006). Younger age was associated with reduced emotional well-being and vitality (all p≤0.006). There were no HR-QoL differences between sexes.

Conclusion: HR-QoL in isolated dystonia is strongly associated with psychiatric and physical features. While current standard of care focus on motor aspects of dystonia, comprehensive care should address both physical and mental aspects of health.
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http://dx.doi.org/10.1136/jnnp-2020-325193DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8356023PMC
February 2021

Parkinson's disease after COVID-19.

J Neurol Sci 2021 03 28;422:117331. Epub 2021 Jan 28.

Baylor College of Medicine, Department of Neurology, Parkinson's Disease Center and Movement Disorders Clinic, Houston, TX, USA. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2021.117331DOI Listing
March 2021

Reply to: "Toward a Personalized Approach to Parkinson's Cell Therapy".

Mov Disord 2020 11;35(11):2120-2121

Department of Neurology, Parkinson's Disease Center and Movement Disorders Clinic, Baylor College of Medicine, Houston, Texas, USA.

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http://dx.doi.org/10.1002/mds.28329DOI Listing
November 2020

Synaptic processes and immune-related pathways implicated in Tourette syndrome.

Transl Psychiatry 2021 01 18;11(1):56. Epub 2021 Jan 18.

Sorbonne Universités, UPMC Université Paris 06, UMR S 1127, CNRS UMR 7225, ICM, Paris, France.

Tourette syndrome (TS) is a neuropsychiatric disorder of complex genetic architecture involving multiple interacting genes. Here, we sought to elucidate the pathways that underlie the neurobiology of the disorder through genome-wide analysis. We analyzed genome-wide genotypic data of 3581 individuals with TS and 7682 ancestry-matched controls and investigated associations of TS with sets of genes that are expressed in particular cell types and operate in specific neuronal and glial functions. We employed a self-contained, set-based association method (SBA) as well as a competitive gene set method (MAGMA) using individual-level genotype data to perform a comprehensive investigation of the biological background of TS. Our SBA analysis identified three significant gene sets after Bonferroni correction, implicating ligand-gated ion channel signaling, lymphocytic, and cell adhesion and transsynaptic signaling processes. MAGMA analysis further supported the involvement of the cell adhesion and trans-synaptic signaling gene set. The lymphocytic gene set was driven by variants in FLT3, raising an intriguing hypothesis for the involvement of a neuroinflammatory element in TS pathogenesis. The indications of involvement of ligand-gated ion channel signaling reinforce the role of GABA in TS, while the association of cell adhesion and trans-synaptic signaling gene set provides additional support for the role of adhesion molecules in neuropsychiatric disorders. This study reinforces previous findings but also provides new insights into the neurobiology of TS.
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http://dx.doi.org/10.1038/s41398-020-01082-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7814139PMC
January 2021

Botulinum Toxin in Movement Disorders: An Update.

Toxins (Basel) 2021 Jan 8;13(1). Epub 2021 Jan 8.

Parkinson's Disease Center and Movement Disorders Clinic, Department of Neurology, Baylor College of Medicine, Houston, TX 77030, USA.

Since its initial approval in 1989 by the US Food and Drug Administration for the treatment of blepharospasm and other facial spasms, botulinum toxin (BoNT) has evolved into a therapeutic modality for a variety of neurological and non-neurological disorders. With respect to neurologic movement disorders, BoNT has been reported to be effective for the treatment of dystonia, bruxism, tremors, tics, myoclonus, restless legs syndrome, tardive dyskinesia, and a variety of symptoms associated with Parkinson's disease. More recently, research with BoNT has expanded beyond its use as a powerful muscle relaxant and a peripherally active drug to its potential central nervous system applications in the treatment of neurodegenerative disorders. Although BoNT is the most potent biologic toxin, when it is administered by knowledgeable and experienced clinicians, it is one of the safest therapeutic agents in clinical use. The primary aim of this article is to provide an update on recent advances in BoNT research with a focus on novel applications in the treatment of movement disorders. This comprehensive review of the literature provides a critical review of evidence-based clinical trials and highlights recent innovative pilot studies.
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http://dx.doi.org/10.3390/toxins13010042DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7827923PMC
January 2021

Head tremor and pain in cervical dystonia.

J Neurol 2021 May 8;268(5):1945-1950. Epub 2021 Jan 8.

Institute for Neural Computation, University of California, La Jolla, San Diego, CA, USA.

Background: Although head tremor (HT) and pain are prevalent in cervical dystonia (CD), their joint relationship to phenotypic features of focal dystonia remains unclear.

Objectives: We examined how severity of HT and pain are associated with age of CD onset and duration, and whether HT subtypes ("jerky" or "regular") exhibit distinct relationships between severity of HT and pain.

Methods: The severity of HT and pain were assessed with the Toronto Western Spasmodic Torticollis Rating Scale in retrospective review of 188 CD patients recruited through the Dystonia Coalition.

Results: HT severity was associated with longer CD duration (p < 0.0005), whereas pain severity was associated with younger age at onset (p = 0.043). HT severity and pain severity were not correlated for jerky HT (p = 0.996), but positively correlated for regular HT (p = 0.01).

Conclusions: The distinct associations of HT and pain with age at onset, disease duration, and HT subtype further characterize the heterogeneity of CD's clinical presentation and suggest similarly heterogeneous underlying mechanisms.
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http://dx.doi.org/10.1007/s00415-020-10378-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8076053PMC
May 2021

Parkinson's disease and skin.

Parkinsonism Relat Disord 2021 01 20;82:61-76. Epub 2020 Nov 20.

Parkinson's Disease Center and Movement Disorders Clinic, Department of Neurology, Baylor College of Medicine, Houston, TX, USA.

Parkinson's disease is associated with a variety of dermatologic disorders and the study of skin may provide insights into pathophysiological mechanisms underlying this common neurodegenerative disorder. Skin disorders in patients with Parkinson's disease can be divided into two major groups: 1) non-iatrogenic disorders, including melanoma, seborrheic dermatitis, sweating disorders, bullous pemphigoid, and rosacea, and 2) iatrogenic disorders related either to systemic side effects of antiparkinsonian medications or to the delivery system of antiparkinsonian therapy, including primarily carbidopa/levodopa, rotigotine and other dopamine agonists, amantadine, catechol-O-methyl transferase inhibitors, subcutaneous apomorphine, levodopa/carbidopa intestinal gel, and deep brain stimulation. Recent advances in our understanding of the role of α-synuclein in peripheral tissues, including the skin, and research based on induced pluripotent stem cells derived from skin fibroblasts have made skin an important target for the study of Parkinson's disease pathogenesis, drug discovery, novel stem cell therapies, and diagnostics.
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http://dx.doi.org/10.1016/j.parkreldis.2020.11.017DOI Listing
January 2021

It's tricky: Rating alleviating maneuvers in cervical dystonia.

J Neurol Sci 2020 Dec 1;419:117205. Epub 2020 Nov 1.

Institute for Neural Computation, University of California, San Diego, 9500 Gilman Dr, La Jolla, CA 92093, United States of America; CNL-S, Salk Institute for Biological Studies, 10010 N Torrey Pines Rd, La Jolla, CA 92037, United States of America. Electronic address:

Objectives: To investigate hypothesized sources of error when quantifying the effect of the sensory trick in cervical dystonia (CD) with the Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS-2), test strategies to mitigate them, and provide guidance for future research on the sensory trick.

Methods: Previous analyses suggested the sensory trick (or "alleviating maneuver", AM) item be removed from the TWSTRS-2 because of its poor clinimetric properties. We hypothesized three sources of clinimetric weakness for rating the AM: 1) whether patients were given sufficient time to demonstrate their AM; 2) whether patients' CD was sufficiently severe for detecting AM efficacy; and 3) whether raters were inadvertently rating the item in reverse of scale instructions. We tested these hypotheses with video recordings and TWSTRS-2 ratings by one "site rater" and a panel of five "video raters" for each of 185 Dystonia Coalition patients with isolated CD.

Results: Of 185 patients, 23 (12%) were not permitted sufficient testing time to exhibit an AM, 23 (12%) had baseline CD too mild to allow confident rating of AM effect, and 1 site- and 1 video-rater each rated the AM item with a reverse scoring convention. When these confounds were eliminated in step-wise fashion, the item's clinimetric properties improved.

Conclusions: The AM's efficacy can contribute to measuring CD motor severity by addressing identified sources of error during its assessment and rating. Given the AM's sensitive diagnostic and potential pathophysiologic significance, we also provide guidance on modifications to how AMs can be assessed in future CD research.
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http://dx.doi.org/10.1016/j.jns.2020.117205DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7728456PMC
December 2020

Dystonia and Tremor: A Cross-Sectional Study of the Dystonia Coalition Cohort.

Neurology 2021 01 12;96(4):e563-e574. Epub 2020 Oct 12.

From the Departments of Biomedical Engineering (A.G.S., S.B.B.) and Neurology (A.G.S.), Case Western University School of Medicine; Neurological Institute (A.G.S.), University Hospitals Cleveland; Neurology Service (A.G.S.), Louis Stokes Cleveland VA Medical Center, OH; Department of Neurology (L.S., G.K.-B., A.F., S. Factor, H.A.J.), Human Genetics (H.A.J.), and Pediatrics (H.A.J.), Emory University School of Medicine, Atlanta, GA; Institute of Neurogenetics (C.K., J.J., S.L., N.B., A.M., T.B.), University of Lübeck, Germany; Department of Neurology (M.V., E.R., C.B.), Pitié-Salpêtrière Hospital, Paris, France; Department of Neurology (J.J.), Baylor College of Medicine, Houston, TX; Neurology and Neurosurgery (J.J.-S.), Icahn School of Medicine at Mount Sinai, New York, NY; Department of Neurology (N.P.), Henry Ford Health System, West Bloomfield, MI; Department of Psychiatry and Neurology (L.M.), Baylor College of Medicine, Houston, TX; Department of Neurological Sciences (C.C.), Rush University Medical Center, Chicago, IL; Department of Neurology (R.L.B.), University of Rochester, NY; Department of Neurology (B.D.B.), University of Colorado School of Medicine, Aurora; Department of Neurology (I.M., A.W.S.), Norman Fixel Institute for Neurological Diseases, University of Florida, Gainesville; Department of Neurology (S.G.R.), University of Maryland School of Medicine, Baltimore; University of Tennessee Health Science Center (M.S.L.), Memphis; Department of Neurosciences (A.B.), Mental Health and Sensory Organs, Suicide Prevention Center, Sant'Andrea Hospital, Sapienza University of Rome; IRCCS Neuromed (G.F.), Pozzilli, Italy; The University of Alabama at Birmingham (N.S.); Methodist Neurological Institute (W.O.), Houston, TX; Department of Neurology (S.P.R.), University of New Mexico Health Sciences Center, Albuquerque; Department of Neurology (R.S.-P.), Mount Sinai Beth Israel, New York, NY; Lou Ruvo Center for Brain Health (Z.M.), Cleveland Clinic, Las Vegas, NV; Booth Gardner Parkinson's Care Center (P.A.), Kirkland, WA; Mayo Clinic (C.A.), Scottsdale, AZ; Andre Barbeau Movement Disorders Unit (S.C.), Montreal University Hospital Center (CHUM); Movement Disorder Clinic (S.H.F.), Toronto Western Hospital, Division of Neurology University of Toronto, Canada; UC Davis School of Medicine (A.B.), Sacramento; The Parkinson's and Movement Disorder Institute (D.T.), Orange Coast Memorial Medical Center, Fountain Valley, CA; Department of Medicine (O.S.), Medical Genetics, and Pediatrics, University of Alberta, Canada; Department of Neurology (S. Frank), Beth Israel Deaconess Medical Center, Boston, MA; and Neurology, Radiology, Neuroscience, Physical Therapy and Occupational Therapy (J.P.), Washington University School of Medicine, St Louis, MO.

Objective: To assess the clinical manifestations and predictors of different types of tremors in individuals with different types of isolated dystonia.

Methods: Clinical manifestations of tremor were assessed in a multicenter, international cross-sectional, cohort study of 2,362 individuals with all types of isolated dystonia (focal, segmental, multifocal, and generalized) recruited through the Dystonia Coalition.

Results: Methodical and standardized assessments of all participants in this cohort revealed the overall prevalence of any type of tremor was 53.3%. The prevalence of dystonic tremor varied from 36.9% to 48.4%, depending on criteria used to define it. To identify the factors associated with tremors in dystonia, the data were analyzed by generalized linear modeling and cluster analyses. Generalized linear modeling indicated 2 of the strongest factors associated with tremor included body region affected by dystonia and recruitment center. Tremor was also associated with severity of dystonia and duration of dystonia, but not with sex or race. The cluster analysis distinguished 8 subgroups within the whole cohort; defined largely by body region with dystonia, and secondarily by other clinical characteristics.

Conclusion: The large number of cases evaluated by an international team of movement disorder experts facilitated the dissection of several important factors that influence the apparent prevalence and phenomenology of tremor in dystonia. These results are valuable for understanding the many differences reported in prior studies, and for guiding future studies of the nosology of tremor and dystonia.
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http://dx.doi.org/10.1212/WNL.0000000000011049DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7905789PMC
January 2021

A validation of a self-administered screening test for Parkinson's disease.

J Neurol Sci 2020 Nov 2;418:117116. Epub 2020 Sep 2.

Parkinson's Disease and Movement Disorders Center, Department of Neurology, Baylor College of Medicine, Houston, Texas Street, United States of America.

Background: The detection and diagnosis of Parkinson's disease (PD) is of paramount importance for optimal treatment and for participation in disease-modifying trials. The present study assesses the diagnostic accuracy of the Baylor Functional Assessment Scale (BFAS), a self-administered screening instrument, designed to distinguish between patients with PD, other disorders (OD), and healthy controls (HC).

Methods: Using the BFAS, we screened a total of 265 individuals including patients diagnosed at the Baylor College of Medicine Parkinson's Disease Center and Movement Disorders Clinic (PDCMDC) with PD (N = 63) and with OD (N = 47), and HC (N = 155) participants recruited from the PDCMDC and community health fairs.

Results: Significant group differences in BFAS total scores were found (F = 172.6; p < 0.001) between patients with PD and those with OD and both groups endorsed more items than the HC group. A cut-point of 3 on the BFAS total score maximized the sensitivity (85.7%, 95%CI: 74.61% to 93.25%) and the specificity (87.7%, 05% Ci: 81.52% to 92.46%) for distinguishing PD from HC with a negative predictive value (NPV) of 93.8% and a negative likelihood ratio (NLR) of 0.16. At a cut-point of 5, the BFAS maximized sensitivity (76%, 95% CI: 63.79% to 86.02%) and specificity (72%, 95% CI: 57.36% to 84.38%) for distinguishing PD from OD with a NPV of 69.4% and a NLR of 0.33.

Conclusions: In this pilot study, the BFAS provides a sensitive and specific screening tool for PD that helps differentiate individuals with PD from HC and from those with other disorders. Through future validation studies, the BFAS may be a useful instrument for identifying individuals with PD and for recruitment into PD clinical trials.
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http://dx.doi.org/10.1016/j.jns.2020.117116DOI Listing
November 2020
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