82,226 results match your criteria Parkinsonism & Related Disorders [Journal]


Association between restless legs syndrome and other movement disorders.

Neurology 2019 Apr 19. Epub 2019 Apr 19.

From the Section of Neurology (H.A.-N., F.J.J.-J.), Hospital Universitario del Sureste, Arganda del Rey, Madrid; and University Institute of Molecular Pathology Biomarkers (E.G.-M., J.A.G.A), UNEx, ARADyAL Instituto de Salud Carlos III, Cáceres, Spain.

Objective: This review focuses on the possible association between restless legs syndrome (RLS) and movement disorders, including Parkinson disease (PD), other parkinsonian syndromes, essential tremor, choreic and dystonic syndromes, Tourette syndrome, and heredodegenerative ataxias.

Methods: Review of PubMed from 1966 to September 2018 and identification of references of interest for the topic. A meta-analysis of eligible studies on the frequency of RLS in patients with PD and controls using Meta-DiSc1. Read More

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http://dx.doi.org/10.1212/WNL.0000000000007500DOI Listing

Underestimated disease prevalence and severe phenotypes in patients with biallelic variants: A cohort study of primary familial brain calcification from China.

Parkinsonism Relat Disord 2019 Apr 11. Epub 2019 Apr 11.

Department of Neurology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China. Electronic address:

Background: Primary familial brain calcification (PFBC) is a rare calcifying disorder of the brain with extensive clinical and genetic heterogeneity. Its prevalence is underestimated due to clinical selection bias (compared with symptomatic PFBC patients, asymptomatic ones are less likely to undergo genetic testing).

Methods: A total of 273 PFBC probands were enrolled in a multicenter retrospective cohort study by two different approaches. Read More

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http://dx.doi.org/10.1016/j.parkreldis.2019.04.009DOI Listing

Combinatory microRNA serum signatures as classifiers of Parkinson's disease.

Parkinsonism Relat Disord 2019 Apr 11. Epub 2019 Apr 11.

Department of Biological Sciences, St. John's University, New York, NY, USA
. Electronic address:

Introduction: As current clinical diagnostic protocols for Parkinson's disease (PD) may be prone to inaccuracies there is a need to identify and validate molecular biomarkers, such as circulating microRNAs, which will complement current practices and increase diagnostic accuracy. This study identifies, verifies and validates combinatory serum microRNA signatures as diagnostic classifiers of PD across different patient cohorts.

Methods: 370 PD (drug naïve) and control serum samples from the Norwegian ParkWest study were used for identification and verification of differential microRNA levels in PD which were validated in a blind study using 64 NY Parkinsonism in UMeå (NYPUM) study serum samples and tested for specificity in 48 Dementia Study of Western Norway (DemWest) study Alzheimer's disease (AD) serum samples using miRNA-microarrays, and quantitative (q) RT-PCR. Read More

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http://dx.doi.org/10.1016/j.parkreldis.2019.04.010DOI Listing

Genetic silencing of striatal CaV1.3 prevents and ameliorates levodopa dyskinesia.

Mov Disord 2019 Apr 19. Epub 2019 Apr 19.

Department of Translational Science & Molecular Medicine, College of Human Medicine, Michigan State University, Grand Rapids, MI, USA.

Background: Levodopa-induced dyskinesias are an often debilitating side effect of levodopa therapy in Parkinson's disease. Although up to 90% of individuals with PD develop this side effect, uniformly effective and well-tolerated antidyskinetic treatment remains a significant unmet need. The pathognomonic loss of striatal dopamine in PD results in dysregulation and disinhibition of striatal CaV1. Read More

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https://onlinelibrary.wiley.com/doi/abs/10.1002/mds.27695
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http://dx.doi.org/10.1002/mds.27695DOI Listing
April 2019
1 Read

Dopamine drives binge-like consumption of a palatable food in experimental Parkinsonism.

Mov Disord 2019 Apr 19. Epub 2019 Apr 19.

Laboratorio di Neurofisiologia, IRCCS Fondazione Santa Lucia, Rome, Italy.

Background: Prolonged dopaminergic replacement therapy in PD results in pulsatile dopamine receptors stimulation in both dorsal and ventral striatum causing wearing off, motor fluctuations, and nonmotor side effects such as behavioral addictions. Among impulse control disorders, binge eating can be easily modeled in laboratory animals.

Objectives: We hypothesize that manipulation of dopamine levels in a 6-hydroxydopamine-lesioned rats, as a model of PD characterized by a different extent of dopamine denervation between dorsal and ventral striatum, would influence both synaptic plasticity of the nucleus accumbens and binge-like eating behavior. Read More

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http://dx.doi.org/10.1002/mds.27683DOI Listing

Gait and trunk kinematics during prolonged turning in Parkinson's disease with freezing of gait.

Parkinsonism Relat Disord 2019 Apr 13. Epub 2019 Apr 13.

Department of Kinesiology and Physical Education, McGill University, Montreal, Quebec, Canada; Centre for Interdisciplinary Research in Rehabilitation, Montreal, Quebec, Canada. Electronic address:

Introduction: Although turning during walking is known to trigger freezing of gait (FOG) in Parkinson's disease (PD), little is known about kinematic strategies used by individuals with PD and FOG while performing prolonged turning.

Objective: Our aim was to compare gait and trunk kinematics during straight walking and continuous turning over 20-min in PD with and without FOG.

Methods: 18 individuals with idiopathic PD (n = 9 with FOG, n = 9 without FOG), performed two 20-min walking tasks: straight ahead, and turning, in a laboratory setting in their OFF medication state. Read More

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http://dx.doi.org/10.1016/j.parkreldis.2019.04.011DOI Listing
April 2019
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Gene co-expression analysis of the human substantia nigra identifies BMP2 as a neurotrophic factor that can promote neurite growth in cells overexpressing wild-type or A53T α-synuclein.

Parkinsonism Relat Disord 2019 Apr 11. Epub 2019 Apr 11.

Department of Anatomy and Neuroscience & Cork Neuroscience Centre, University College Cork, Cork, Ireland; Department of Physiology, University College Cork, Cork, Ireland. Electronic address:

Introduction: α-synuclein-induced degeneration of dopaminergic neurons has been proposed to be central to the early progression of Parkinson's disease. This highlights the need to identify factors that are neuroprotective or neuroregenerative against α-synuclein-induced degeneration. Due to their potent neurotrophic effects on nigrostriatal dopaminergic neurons, we hypothesized that members of the bone morphogenetic protein (BMP) family have potential to protect these cells against α-synuclein. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S13538020193020
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http://dx.doi.org/10.1016/j.parkreldis.2019.04.008DOI Listing
April 2019
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To stitch or not to stitch: A case review: Auricular lacerations involving cartilage management in the emergency department.

Australas Emerg Care 2018 May 6;21(2):75-79. Epub 2018 Jun 6.

Emergency and Trauma Centre, The Alfred Hospital, Commercial Road, Prahran, Victoria 3004, Australia.

Patients with Parkinsonism are at risk of frequent falls by virtue of their unstable gait. Auricular lacerations involving the cartilage are usually managed by Plastics Surgeons. Patient Mr Jones (an alias for this case review) had sustained a significant full thickness auricular laceration that was complicated by a past medical history with Parkinson's disease. Read More

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http://dx.doi.org/10.1016/j.auec.2018.03.002DOI Listing

A novel homozygous variation in the gene in two Persian siblings with atypical pantothenate kinase associated neurodegeneration.

Neurol Int 2019 Mar 11;11(1):7959. Epub 2019 Mar 11.

Iran University of Medical Sciences, Tehran.

Pantothenate Kinase-associated Neurodegeneration (PKAN) is an autosomal recessive disorder that is caused by variation in pantothenate kinase-2 gene () gene on chromosome 20. The common presentation of this disease includes progressive dystonia, Parkinsonism, retinopathy, cognitive impairment, and spasticity. The typical magnetic resonance imaging finding is sign in globus pallidus and not pathogenic and not found in all patients. Read More

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https://www.pagepress.org/journals/index.php/ni/article/view
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http://dx.doi.org/10.4081/ni.2019.7959DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6444562PMC
March 2019
2 Reads

Large left posterior fossa meningioma presenting with quadriplegia in a woman with history of carbidopa-levodopa resistant parkinsonism.

Neurol Int 2019 Mar 11;11(1):7815. Epub 2019 Mar 11.

Radiology Unit, Surgi-Med Clinic.

A 56-year-old Afro-Trinidadian woman with a history of a carbidopa-levodopa resistance Parkinsonian-like syndrome for 2 years, presented with acute onset spastic quadriplegia and decreased responsiveness. Diagnosis involved clinical and MR-imaging correlation consistent with a large left posterior fossa meningioma. Surgical removal of the tumor led to complete reversibility of the neurological manifestations associated with cerebellar tonsillar herniation beyond the foramen magnum and mass effect on the brainstem, cerebellum and midbrain regions. Read More

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http://dx.doi.org/10.4081/ni.2019.7815DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6444560PMC

Clinical and Genetic Study of the First Japanese FTDP-17 Patient with a Mutation of +3 in Intron 10 in the MAPT Gene.

Intern Med 2019 Apr 17. Epub 2019 Apr 17.

Department of Neurology, Graduate School of Medical Sciences, University of Yamanashi, Japan.

Frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17) with mutations in the MAPT gene is a hereditary neurodegenerative tauopathy with various clinical phenotypes. We herein report the first Japanese patient with FTDP-17 caused by an IVS10+3G>A mutation in the MAPT gene, which is linked to an H1M haplotype. The present study suggests that the IVS10+3G>A mutation in the MAPT gene can have originated from a non-Caucasian population. Read More

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https://www.jstage.jst.go.jp/article/internalmedicine/advpub
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http://dx.doi.org/10.2169/internalmedicine.2761-19DOI Listing
April 2019
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Optimizing the Diagnosis of Parkinsonian Syndromes With I-Ioflupane Brain SPECT.

AJR Am J Roentgenol 2019 Apr 17:1-11. Epub 2019 Apr 17.

3 Department of Medical Imaging, University of Arizona, Tucson, AZ.

The purpose of this article is to provide a review of I-ioflupane SPECT in the evaluation of suspected parkinsonian syndromes (PSs). This collection of diseases presents frequent diagnostic challenges, even by movement disorder and dementia specialists. The I-ioflupane scan serves as an imaging biomarker of the status of presynaptic dopamine transporters (DATs) in the striatum. Read More

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https://www.ajronline.org/doi/10.2214/AJR.19.21088
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http://dx.doi.org/10.2214/AJR.19.21088DOI Listing
April 2019
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Orally inhaled levodopa (CVT-301) for early morning OFF periods in Parkinson's disease.

Parkinsonism Relat Disord 2019 Mar 30. Epub 2019 Mar 30.

Acorda Therapeutics, Inc., Ardsley, NY, USA.

Background: CVT-301(Inbrija) is a self-administered orally inhaled levodopa approved for the intermittent treatment of OFF episodes in patients with Parkinson's disease (PD) treated with carbidopa/levodopa. Prior studies only evaluated CVT-301 after the first ON of the day.

Objective And Methods: The objective of this study was to evaluate the safety and tolerability of CVT-301 for early morning OFF. Read More

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http://dx.doi.org/10.1016/j.parkreldis.2019.03.026DOI Listing

Management of fracture risk in Parkinson's: A revised algorithm and focused review of treatments.

Parkinsonism Relat Disord 2019 Apr 8. Epub 2019 Apr 8.

Older People's Unit, Royal United Hospitals Bath NHS Foundation Trust, Combe Park, Bath, BA1 3NG, UK; Musculoskeletal Research Unit, Translational Health Sciences, Bristol Medical School, University of Bristol, Learning and Research Building, Southmead Hospital, Bristol, BS10 5NB, UK.

Introduction: Falls and fractures are a cause of substantial morbidity in Parkinson's. Despite an excess risk of both falls and osteoporosis, people with Parkinson's perceive that they are less likely to fracture than their peers, despite actually being at higher fracture risk. Recognising this increased risk, in 2014 we published an algorithm to guide management of fracture risk in this high-risk population. Read More

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http://dx.doi.org/10.1016/j.parkreldis.2019.03.021DOI Listing
April 2019
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Involvement of cortical dysfunction in frequent falls in patients with Parkinson's disease.

Parkinsonism Relat Disord 2019 Apr 11. Epub 2019 Apr 11.

Department of Neurology, Osaka University Graduate School of Medicine, Suita, Osaka, 565-0871, Japan. Electronic address:

Introduction: Gait and balance disorders are common clinical features of Parkinson's disease (PD). Although falls significantly affect the activities of daily living (ADL) and quality of life (QOL) of patients with PD, the underlying neural mechanisms associated with frequent falls in PD patients are still unclear.

Methods: Hypothesizing that the cerebral cortex would contribute to frequent falls in PD, we obtained 3D T1-weighted images from 91 non-dementia patients with PD and performed voxel-based morphometric analysis (VBM). Read More

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http://dx.doi.org/10.1016/j.parkreldis.2019.04.007DOI Listing

Motor, cognitive and behavioral differences in MDS PSP phenotypes.

J Neurol 2019 Apr 15. Epub 2019 Apr 15.

Department of Medicine, Surgery and Dentistry, Neuroscience Section, Center for Neurodegenerative Diseases (CEMAND), University of Salerno, 84131, Baronissi (Salerno), Italy.

Introduction: Movement Disorder Society (MDS) new diagnostic criteria for Progressive Supranuclear palsy (PSP) identifying different disease phenotypes were recently released. The aim of the present study is to report on the cognitive and behavioral features of the different phenotypes diagnosed according to the MDS criteria.

Methods: Forty-nine PSP patients underwent an extensive battery of clinical assessments. Read More

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http://link.springer.com/10.1007/s00415-019-09324-x
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http://dx.doi.org/10.1007/s00415-019-09324-xDOI Listing
April 2019
2 Reads

Mapping of apparent susceptibility yields promising diagnostic separation of progressive supranuclear palsy from other causes of parkinsonism.

Sci Rep 2019 Apr 15;9(1):6079. Epub 2019 Apr 15.

Clinical Memory Research Unit, Department of Clinical Sciences, Lund University, 212 24, Malmö, Sweden.

There is a need for methods that distinguish Parkinson's disease (PD) from progressive supranuclear palsy (PSP) and multiple system atrophy (MSA), which have similar characteristics in the early stages of the disease. In this prospective study, we evaluate mapping of apparent susceptibility based on susceptibility weighted imaging (SWI) for differential diagnosis. We included 134 patients with PD, 11 with PSP, 10 with MSA and 44 healthy controls. Read More

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http://dx.doi.org/10.1038/s41598-019-42565-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6465307PMC

Investigation of the Treatment and Living Assistance Needed by Patients with Young-Onset Parkinson's Disease.

Kobe J Med Sci 2019 Feb 21;64(5):E180-E188. Epub 2019 Feb 21.

Faculty of Nursing and Medical Care, Keio University, Kanagawa, Japan.

Purpose: This study assessed the symptoms, treatment, social systems use, and perception of living conditions of patients with young-onset Parkinson's disease (YOPD), and investigated the support needed by them.

Method: Among the 252 people who completed our questionnaire, we defined YOPD patients as those diagnosed as young onset or those with onset at ≤40 years. The data were compared with others. Read More

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February 2019

Prevalence of and factors associated with postural deformities in Chinese patients with multiple system atrophy.

Parkinsonism Relat Disord 2019 Mar 27. Epub 2019 Mar 27.

Department of Neurology and National Clinical Research Center for Geriatrics, West China Hospital, Sichuan University, Chengdu, Sichuan, China
. Electronic address:

Objective: The prevalence of postural deformities in patients with multiple system atrophy (MSA) has varied among previous studies. The objective of our study was to investigate the prevalence of and factors associated with postural deformities in Chinese MSA patients.

Methods: A total of 732 MSA patients were consecutively enrolled in the current study. Read More

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http://dx.doi.org/10.1016/j.parkreldis.2019.03.024DOI Listing

When motor control gets out of hand: Speeding up triggers freezing in the upper limb in Parkinson's disease.

Parkinsonism Relat Disord 2019 Apr 8. Epub 2019 Apr 8.

Neuromotor Rehabilitation Research Group, Department of Rehabilitation Sciences, KU Leuven, Belgium. Electronic address:

Introduction: Patients with Parkinson's disease (PD) can suffer from sudden movement arrests during upper limb tasks. The current study investigated a test to assess freezing of the upper limbs (FOUL) at two speed conditions to improve the sensitivity of FOUL detection.

Methods: Forty-nine patients with PD and 10 age-matched controls (HC) performed a freezing-provoking writing task, requiring up- and down-stroke writing at varying sizes in-between visual target zones indicating funnel-shapes on a touch-sensitive tablet. Read More

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http://dx.doi.org/10.1016/j.parkreldis.2019.04.005DOI Listing
April 2019
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Neuroimaging biomarkers for clinical trials in atypical parkinsonian disorders: Proposal for a Neuroimaging Biomarker Utility System.

Alzheimers Dement (Amst) 2019 Dec 2;11:301-309. Epub 2019 Apr 2.

Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom.

Introduction: Therapeutic strategies targeting protein aggregations are ready for clinical trials in atypical parkinsonian disorders. Therefore, there is an urgent need for neuroimaging biomarkers to help with the early detection of neurodegenerative processes, the early differentiation of the underlying pathology, and the objective assessment of disease progression. However, there currently is not yet a consensus in the field on how to describe utility of biomarkers for clinical trials in atypical parkinsonian disorders. Read More

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http://dx.doi.org/10.1016/j.dadm.2019.01.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6446052PMC
December 2019
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Lurasidone-induced Parkinsonism and Hyperprolactinemia.

Indian J Psychol Med 2019 Mar-Apr;41(2):192-194

Department of Psychiatry, All India Institute of Medical Sciences, Jodhpur, Rajasthan, India.

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http://www.ijpm.info/text.asp?2019/41/2/192/246959
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http://dx.doi.org/10.4103/IJPSYM.IJPSYM_274_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6436398PMC
April 2019
1 Read

Focus on the pedunculopontine nucleus. Consensus review from the May 2018 brainstem society meeting in Washington, DC, USA.

Clin Neurophysiol 2019 Mar 28;130(6):925-940. Epub 2019 Mar 28.

Human Motor Control Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.

The pedunculopontine nucleus (PPN) is located in the mesopontine tegmentum and is best delimited by a group of large cholinergic neurons adjacent to the decussation of the superior cerebellar peduncle. This part of the brain, populated by many other neuronal groups, is a crossroads for many important functions. Good evidence relates the PPN to control of reflex reactions, sleep-wake cycles, posture and gait. Read More

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http://dx.doi.org/10.1016/j.clinph.2019.03.008DOI Listing

Electrocortical networks in Parkinson's disease patients with Mild Cognitive Impairment. The PaCoS study.

Parkinsonism Relat Disord 2019 Apr 3. Epub 2019 Apr 3.

Department "G.F. Ingrassia", Section of Neurosciences, University of Catania, Via S. Sofia 78, 95123, Catania, Italy. Electronic address:

Introduction: Parkinson's Disease (PD) is frequently associated with cognitive dysfunction ranging from Mild Cognitive Impairment (PD-MCI) to dementia. Few electrophysiological studies are available evaluating potential pathogenetic mechanisms linked to cognitive impairment in PD since its initial phases. The objective of the study is to analyze electrocortical networks related with cognitive decline in PD-MCI for identifying possible early electrophysiological markers of cognitive impairment in PD. Read More

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http://dx.doi.org/10.1016/j.parkreldis.2019.03.027DOI Listing

Progressive loss of raphe nuclei serotonin transporter in early Parkinson's disease: A longitudinal I-FP-CIT SPECT study.

Parkinsonism Relat Disord 2019 Apr 5. Epub 2019 Apr 5.

Institute of Neuroscience, Newcastle University, UK; Department of Nuclear Medicine & PET Centre, Aarhus University, Denmark. Electronic address:

Background: Serotonergic raphe nuclei dysfunction has been documented in Parkinson's disease, both in pathological and neuroimaging studies, and has been associated with scores of tremor and non-motor symptoms. However, no in vivo longitudinal investigations have been conducted to assess the rate of decline of raphe serotonin transporter availability in the early stages of the disease.

Objective: To measure the rate of decline of raphe serotonin transporter availability over a two-year interval in patients with recently diagnosed disease and its association with non-motor symptoms over time. Read More

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http://dx.doi.org/10.1016/j.parkreldis.2019.03.025DOI Listing
April 2019
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Mapping stimulation-induced beneficial and adverse effects in the subthalamic area of essential tremor patients.

Parkinsonism Relat Disord 2019 Apr 3. Epub 2019 Apr 3.

Department of Neurology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. Electronic address:

Background: Stimulation of the subthalamic area (STA) is an effective treatment in essential tremor patients, but limited by stimulation induced adverse effects. The aim of this study was to determine the spatial distribution of stimulus related tremor suppression, ataxia induction and paresthesia of the upper limb in the subthalamic area (STA) of essential tremor patients.

Methods: We recruited eight patients with essential tremor in a stable postoperative condition (>3 months after surgery). Read More

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http://dx.doi.org/10.1016/j.parkreldis.2019.03.028DOI Listing

CSF and blood biomarkers for Parkinson's disease.

Lancet Neurol 2019 Apr 10. Epub 2019 Apr 10.

Section of Neurology, Department of Medicine, University of Perugia, Perugia, Italy; IRCCS Fondazione Santa Lucia, Rome, Italy.

In the management of Parkinson's disease, reliable diagnostic and prognostic biomarkers are urgently needed. The diagnosis of Parkinson's disease mostly relies on clinical symptoms, which hampers the detection of the earliest phases of the disease-the time at which treatment with forthcoming disease-modifying drugs could have the greatest therapeutic effect. Reliable prognostic markers could help in predicting the response to treatments. Read More

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http://dx.doi.org/10.1016/S1474-4422(19)30024-9DOI Listing

Distinct FP-CIT PET patterns of Alzheimer's disease with parkinsonism and dementia with Lewy bodies.

Eur J Nucl Med Mol Imaging 2019 Apr 12. Epub 2019 Apr 12.

Department of Neurology, Yonsei University College of Medicine, 50 Yonsei-ro, Seodaemun-gu, Seoul, 30722, South Korea.

Purpose: Little is known regarding the clinical relevance or neurobiology of subtle motor disturbance in Alzheimer's disease (AD). This study aims to investigate the patterns of striatal F-FP-CIT uptake in patients with AD-related cognitive impairment (ADCI) with mild parkinsonism.

Methods: We recruited 29 consecutive patients with ADCI with mild parkinsonism. Read More

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http://dx.doi.org/10.1007/s00259-019-04315-6DOI Listing
April 2019
1 Read
5.383 Impact Factor

Presynaptic striatal dopaminergic function in atypical parkinsonisms: A meta-analysis of imaging studies.

J Nucl Med 2019 Apr 12. Epub 2019 Apr 12.

University of Turku.

Multiple system atrophy (MSA), progressive supranuclear palsy (PSP) and corticobasal syndrome (CBS) have overlapping signs and symptoms with Parkinson's disease (PD), and these similarities complicate their clinical diagnostics. Although presynaptic dopaminergic brain imaging with PET and SPECT is clinically widely used for patients with suspected PD, the benefit of functional imaging in atypical parkinsonism syndromes remains unclear. We compared striatal presynaptic dopaminergic function in MSA parkinsonism variant (MSA-P), MSA cerebellar variant (MSA-C), PSP, CBS and PD using combined quantitative data from all published studies. Read More

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http://dx.doi.org/10.2967/jnumed.119.227140DOI Listing

Clinical, neuropathological and genetic features of Lewy body dementias.

Neuropathol Appl Neurobiol 2019 Apr 12. Epub 2019 Apr 12.

Reta Lila Weston Institute, UCL Queen Square Institute of Neurology, London.

Lewy body dementias are the second most common neurodegenerative dementias after Alzheimer's disease, and include dementia with Lewy bodies and Parkinson's disease dementia. They share similar clinical and neuropathological features but differ in the time of dementia and parkinsonism onset. Although Lewy bodies are their main pathological hallmark, several studies have shown the emerging importance of Alzheimer's disease pathology. Read More

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http://dx.doi.org/10.1111/nan.12554DOI Listing
April 2019
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Multiple system atrophy mimicked by multi-organ pathology.

Pract Neurol 2019 Apr 11. Epub 2019 Apr 11.

Department of Neurology, Leeds Teaching Hospitals NHS Trust, Leeds, UK

Both multiple system atrophy and Parkinson's disease may present with parkinsonism and autonomic dysfunction. We describe a patient who initially met the diagnostic criteria for multiple system atrophy and had atypical features for Parkinson's disease including blackouts and pyramidal signs. Ultimately, he was found to have three separate diagnoses rather than a single unifying one. Read More

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http://pn.bmj.com/lookup/doi/10.1136/practneurol-2019-002233
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http://dx.doi.org/10.1136/practneurol-2019-002233DOI Listing
April 2019
2 Reads

Parkinsonism in PGK1 deficiency implicates the glycolytic pathway in nigrostriatal dysfunction.

Parkinsonism Relat Disord 2019 Apr 5. Epub 2019 Apr 5.

Movement Disorders Unit, Neurology Department, Westmead Hospital, NSW, Australia; Sydney Medical School, University of Sydney, Sydney, Australia. Electronic address:

Background: Phosphoglycerate kinase-1 deficiency is caused by X-linked recessive mutations in PGK-1 and associated with haemolytic anaemia, rhabdomyolysis, myopathy and nervous system involvement. Some cases have been rarely associated with juvenile Parkinsonism however the causal relationship between PGK1 deficiency and nigrostriatal dysfunction causing Parkinsonism has not been determined.

Objective And Methods: To investigate the nigrostriatal system using 99mTc-TRODAT-1 SPECT binding and report the phenotype of three affected males with early onset levodopa responsive Parkinsonism harbouring the c. Read More

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http://dx.doi.org/10.1016/j.parkreldis.2019.04.004DOI Listing
April 2019
4 Reads

The impact of subthalamic deep brain stimulation on sleep and other non-motor symptoms in Parkinson's disease.

Parkinsonism Relat Disord 2019 Apr 5. Epub 2019 Apr 5.

Neurology Department, St Adalbert Hospital Copernicus PL, Gdansk, Poland; Neurological and Psychiatric Nursing Department, Faculty of Health Sciences, Medical University of Gdansk, Gdansk, Poland.

Introduction: The non-motor symptoms have a major impact on quality of life in patients with Parkinson Disease (PD). We present results of the study on the impact of subthalamic deep brain stimulation (DBS-STN) on sleep and other non-motor symptoms in PD patients.

Materials And Methods: Thirty-six patients with advanced PD were included into the study. Read More

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http://dx.doi.org/10.1016/j.parkreldis.2019.04.001DOI Listing
April 2019
1 Read

Autosomal recessive ADCY5-Related dystonia and myoclonus: Expanding the genetic spectrum of ADCY5-Related movement disorders.

Parkinsonism Relat Disord 2019 Feb 28. Epub 2019 Feb 28.

Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia; Department of Biomedical Research, King Fahad Specialist Hospital, Dammam, Saudi Arabia.

Introduction: ADCY5-related hyperkinesia encompasses a heterogeneous group of phenotypes, including paroxysmal chorea, myoclonus, and dystonia. The disease is attributed to mutations of ADCY5, which encodes an adenylate cyclase enzyme. The disease can occur in a sporadic or familial pattern. Read More

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http://dx.doi.org/10.1016/j.parkreldis.2019.02.039DOI Listing
February 2019
1 Read

A hexanucleotide repeat modifies expressivity of X-linked dystonia-parkinsonism.

Ann Neurol 2019 Apr 11. Epub 2019 Apr 11.

Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.

Objective: X-linked dystonia-parkinsonism (XDP) is a neurodegenerative movement disorder caused by a single mutation: SINE-VNTR-Alu (SVA) retrotransposon insertion in TAF1. Recently, a (CCCTCT) repeat within the SVA insertion has been reported as an age-at-onset (AAO) modifier in XDP. Here we investigate the role of this hexanucleotide repeat in modifying expressivity of XDP. Read More

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http://dx.doi.org/10.1002/ana.25488DOI Listing
April 2019
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Corneal Evaluation in Patients With Parkinsonism on Long-Term Amantadine Therapy.

Cornea 2019 Apr 9. Epub 2019 Apr 9.

Cornea & Ocular Surface Services, Dr Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India.

Purpose: To evaluate the progression of corneal endothelial changes in patients with Parkinson disease (PD) on long-term oral amantadine therapy.

Methods: A prospective comparative longitudinal observational study of 90 patients (180 eyes) with PD on more than 6 months of oral amantadine therapy, 30 amantadine naive patients with PD, and 30 healthy controls (age and gender matched). Corneal endothelial cell parameters (endothelial cell density, percentage hexagonality of the cells, and coefficient of variation) and corneal subbasal nerve fiber layer changes were studied over a follow-up period of 1 year. Read More

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http://dx.doi.org/10.1097/ICO.0000000000001951DOI Listing
April 2019
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2.360 Impact Factor

CSF1R mutation presenting as dementia with Lewy bodies.

Neurocase 2019 Apr 10:1-4. Epub 2019 Apr 10.

a Department of Neurology , Mayo Clinic , Rochester , MN , USA.

Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is an adult-onset autosomal dominant leukoencephalopathy resulting from mutations affecting the tyrosine kinase domain of the colony stimulating factor receptor 1 protein (encoded by CSF1R). The clinical phenotypes reported with CSF1R mutations are variable. We present a case of a patient with a pathogenic variant in the CSF1R gene with clinical and imaging features suggestive of Dementia with Lewy Bodies (DLB). Read More

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http://dx.doi.org/10.1080/13554794.2019.1601230DOI Listing
April 2019
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Acupuncture Inhibits the Increase in Alpha-Synuclein by Modulating SGK1 in an MPTP Induced Parkinsonism Mouse Model.

Am J Chin Med 2019 Apr 9:1-13. Epub 2019 Apr 9.

† Department of Meridian and Acupoint, College of Korean Medicine, and WHO Collaborating Center for Traditional Medicine, East-West Medical Research Institute, Kyung Hee University, Seoul 130-701, Republic of Korea.

Parkinson's disease (PD), a progressive neurodegenerative disease, is caused by the loss of dopaminergic neurons in the substantia nigra (SN). It is characterized by the formation of intracytoplasmic Lewy bodies that are primarily composed of the protein alpha-synuclein ( -syn) along with dystrophic neurites. Acupuncture stimulation results in an enhanced survival of dopaminergic neurons in the SN in parkinsonism animal models. Read More

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http://dx.doi.org/10.1142/S0192415X19500277DOI Listing

Reducing gene dosage induces dopaminergic neuronal loss and motor impairments in knockout mice.

Commun Biol 2019 4;2:125. Epub 2019 Apr 4.

Department of Molecular Medicine, Scripps Research, 10550 North Torrey Pines Road, La Jolla, CA 92037 USA.

Mutations in the gene are associated with early onset Parkinsonism. The mouse, however, does not exhibit neurodegeneration or other Parkinson's disease (PD) phenotypes. Previously, we discovered that translation of Mcl-1, a pro-survival factor, is upregulated in the mouse, suggesting a compensatory mechanism during development. Read More

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http://dx.doi.org/10.1038/s42003-019-0366-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6449387PMC

Revision of Diagnosis in Early Parkinsonism with Abnormal Dopamine Transporter Imaging.

J Parkinsons Dis 2019 Apr 3. Epub 2019 Apr 3.

Department of Neurology, University of Pittsburgh, Pittsburgh, PA, USA.

Background: In patients with early parkinsonism, misdiagnosis may occur in >30% of cases. This can have detrimental consequences clinically and in clinical trials. Dopamine transporter (DAT) SPECT imaging can help improve diagnostic accuracy. Read More

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http://dx.doi.org/10.3233/JPD-181517DOI Listing
April 2019
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Blepharospasm: A genetic screening study in 132 patients.

Parkinsonism Relat Disord 2019 Apr 2. Epub 2019 Apr 2.

Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, 20892, USA.

Introduction: Blepharospasm is a common type of focal dystonia that involves involuntary eyelid spasms and eye closure. In familial cases, an autosomal dominant pattern of inheritance is noted with reduced penetrance. Few genes have been associated with the disease including GNAL and CIZ1. Read More

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http://dx.doi.org/10.1016/j.parkreldis.2019.04.003DOI Listing
April 2019
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PNKP deficiency mimicking a benign hereditary chorea: The misleading presentation of a neurodegenerative disorder.

Parkinsonism Relat Disord 2019 Apr 1. Epub 2019 Apr 1.

Department of Human Neuroscience, Sapienza University of Rome, Italy. Electronic address:

PNKP gene encodes for a kinase/phosphatase involved in DNA damage response, controlled and stabilized by ATM phosphorylation. PNKP deficiency, thus far described in 40 subjects, has been associated with a complex neurological phenotype encompassing microcephaly, seizures, developmental delay, ataxia, oculomotor apraxia and polyneuropathy. We report a new case expanding the clinical phenotype of this rare disorder. Read More

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http://dx.doi.org/10.1016/j.parkreldis.2019.03.012DOI Listing

Clinical approach to tremor in children.

Parkinsonism Relat Disord 2019 Mar 23. Epub 2019 Mar 23.

Department of Neurological Sciences, University of Nebraska Medical Center, Omaha, NE, 68198, United States. Electronic address:

Pediatric Movement Disorders encompass a very large and complex group of diseases, among which Tremor is one of the least studied. Evaluation of tremors in kids carries significant challenges, in particular the fact that many tremor etiologies have other associated movement disorders that make tremor identification more difficult. Also, it is sometimes difficult to differentiate tremors from other shaking disorders. Read More

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http://dx.doi.org/10.1016/j.parkreldis.2019.03.015DOI Listing
March 2019
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Protein carbonylation in dopaminergic cells exposed to rotenone.

Toxicol Lett 2019 Apr 2;309:20-32. Epub 2019 Apr 2.

Department of Chemistry, Biology and Biotechnology, University of Perugia, 06123 Perugia, Italy. Electronic address:

Rotenone is an environmental neurotoxin that induces degeneration of dopaminergic neurons and the most common features of Parkinson's disease in animal models. It acts as a mitochondrial complex I inhibitor that impairs cellular respiration, with consequent increase of reactive oxygen species and oxidative stress. This study evaluates the rotenone-induced oxidative damage in PC12 cells, focusing particularly on protein oxidation. Read More

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http://dx.doi.org/10.1016/j.toxlet.2019.04.002DOI Listing

Parkinsonism as presenting symptom of primary hyperparathyroidism: Improvement after surgery.

Cir Cir 2019 ;86(1):96-98

Department of General and Digestive System Surgery, Hospital General Universitario Reina Sofía, Murcia, Spain.

Introduction: Hypercalcemia can cause different neurological disorders, depending on the calcium level. We report an exceptional case of primary hyperparathyroidism presenting as neurological alteration and it has favourable outcome after parathyroidectomy.

Case Report: A 74-year-old woman presented with progressive cognitive deterioration and impaired motor function. Read More

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http://dx.doi.org/10.24875/CIRUE.M18000015DOI Listing
January 2019
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Parkinsonian traits in amyotrophic lateral sclerosis (ALS): a prospective population-based study.

J Neurol 2019 Apr 4. Epub 2019 Apr 4.

Department of Neuroscience "Rita Levi Montalcini", Movement Disorders Center, University of Turin, Turin, Italy.

Background: Amyotrophic lateral sclerosis (ALS) is characterized by a spectrum of phenotypes, but only a few studies have addressed the presence of parkinsonian (PK) symptoms. The aim of our study was to investigate the occurrence of PK features in a prospective population-based cohort of ALS patients, determining their demographic, clinical, neuropsychological and genetic characteristics, and identifying their morphological and functional imaging correlates.

Methods: A consecutive series of ALS patients were enrolled and prospectively followed for 2 years. Read More

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http://link.springer.com/10.1007/s00415-019-09305-0
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http://dx.doi.org/10.1007/s00415-019-09305-0DOI Listing
April 2019
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Analysis of the prevalence and onset of dysphonia and dysphagia symptoms in movement disorders at an academic medical center.

J Clin Neurosci 2019 Apr 1. Epub 2019 Apr 1.

Department of Neurology, Wake Forest School of Medicine, Winston-Salem, NC, USA.

Voice and swallowing impairments are common in movement disorders, but their effect on patients' quality of life is not well known. This study was conducted to determine the onset and prevalence of patient-reported dysphonia and dysphagia symptoms in Parkinson's disease (PD), dystonia, Atypical Parkinsonian Syndromes (APS), and Essential Tremor (ET). Patients referred to a movement disorders clinic in a tertiary care academic medical center completed validated voice and swallowing specific Quality of Life (QOL) questionnaires: Voice Handicap Index-10 (VHI-10) and Eating Assessment Tool-10 (EAT-10). Read More

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http://dx.doi.org/10.1016/j.jocn.2019.03.043DOI Listing
April 2019
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Most cases with Lewy pathology in a population-based cohort adhere to the Braak progression pattern but 'failure to fit' is highly dependent on staging system applied.

Parkinsonism Relat Disord 2019 Mar 28. Epub 2019 Mar 28.

Department of Neurology, University of Pennsylvania School of Medicine, Philadelphia, PA, USA; Parkinson's Disease Research, Education and Clinical Center, Michael J. Crescenz Veterans Affairs Medical Center, Philadelphia, PA, USA. Electronic address:

Braak et al.'s 2003 paper detailing the caudo-rostral progression of Lewy body pathology (LP) formed the foundation of current understanding of disease spread in Parkinson's disease (PD); however, its methods are difficult to recreate and consequently multiple new staging systems emerged to recapitulate Braak's staging system using standard neuropathological methods and to account for other patterns of LP. Studies using these systems have documented widely variable rates of cases that 'fail to fit' expected patterns of LP spread. Read More

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http://dx.doi.org/10.1016/j.parkreldis.2019.03.023DOI Listing
March 2019
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Effect of using a wearable device on clinical decision-making and motor symptoms in patients with Parkinson's disease starting transdermal rotigotine patch: A pilot study.

Parkinsonism Relat Disord 2019 Jan 28. Epub 2019 Jan 28.

Parkinson's and Movement Disorder Institute, Fountain Valley, CA, USA. Electronic address:

Background: Feedback from wearable biosensors may help assess motor function in Parkinson's disease (PD) patients and titrate medication. Kinesia 360 continuously monitors motor symptoms via wrist and ankle sensors.

Methods: PD0049 was a 12-week pilot study to investigate whether using Kinesia 360 at home could improve motor symptom management in PD patients starting transdermal dopamine agonist rotigotine. Read More

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http://dx.doi.org/10.1016/j.parkreldis.2019.01.025DOI Listing
January 2019
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Risk of Parkinson disease in Sjögren syndrome administered ineffective immunosuppressant therapies: A nationwide population-based study.

Medicine (Baltimore) 2019 Apr;98(14):e14984

Department of Medical Research, China Medical University HsinChu Hospital, HsinChu County, China Medical University.

To determine the incidence and risk of Parkinson disease (PD) in patients with Sjögren syndrome (SS) according to a nationwide population-based database.In total, 12,640 patients in the SS cohort and 50,560 in the non-SS cohort were enrolled from Taiwan's National Health Insurance Research Database from 2000 to 2010. We used the Cox multivariable proportional hazards model to determine the risk factors for PD in the SS cohort. Read More

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http://dx.doi.org/10.1097/MD.0000000000014984DOI Listing
April 2019
3 Reads