Publications by authors named "Steven Frucht"

154 Publications

Twelve Drummers Drumming… With Dystonia.

Tremor Other Hyperkinet Mov (N Y) 2021 Feb 8;11. Epub 2021 Feb 8.

Department of Physical Medicine and Rehabilitation, Northwestern University Feinberg School of Medicine, US.

Background: Reports of drummers' dystonia are rare, particularly compared to the literature on dystonia in string, piano and brass players. Several cases of drummers' dystonia have been included in large series of multiple instrumentalists, but there are few reports comprised exclusively of drummers with musicians' dystonia. We present here a series of 12 drummers with task-specific, focal dystonia affecting their upper limbs while drumming and spanning multiple playing techniques and musical styles.

Methods: We conducted a retrospective chart review of drummers with dystonia seen at academic Movement Disorders centers.

Results: All 12 patients were male, and the majority eventually developed spread of dystonia to tasks other than drumming. Ten of the 12 had dystonia affecting their fingers, while 8/12 had dystonia affecting the wrist. Only 1/12 had involvement proximal to the wrist. Pharmacologic interventions were largely ineffective; 3 had some benefit from botulinum toxin injections, but this was limited by problematic weakness in one drummer.

Discussion: The phenomenology in our series is concordant with prior reported cases, demonstrating frequent wrist involvement, though we also found that a greater proportion of patients had dystonia affecting the fingers. It could be hypothesized that different drumming techniques or musical styles modulate the relative risk of dystonic involvement of the different anatomical regions of the upper limb.

Highlights: Drummers' dystonia is one of the least common forms of musicians' dystonia, though this may reflect fewer numbers of these instrumentalists. We present the largest series of drummers' dystonia and review previously published cases. Our cohort, representing diverse drumming styles, showed frequent involvement of dystonia in the wrists and fingers.
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http://dx.doi.org/10.5334/tohm.577DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7894364PMC
February 2021

Tolerability and Efficacy of Customized IncobotulinumtoxinA Injections for Essential Tremor: A Randomized, Double-Blind, Placebo-Controlled Study.

Toxins (Basel) 2020 Dec 20;12(12). Epub 2020 Dec 20.

Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.

In this first, double-blind, randomized, placebo-controlled exploratory trial, we evaluate the efficacy and safety of incobotulinumtoxinA and feasibility of using kinematic tremor assessment to aid in the planning of muscle selection in a multicenter setting. Reproducibility of the planning technology to other clinical sites was explored. In this trial (NCT02207946), patients with upper-limb essential tremor (ET) were randomized 2:1 to a single treatment cycle of incobotulinumtoxinA or placebo. A tremor kinematic analytics investigational device was used to define a customized muscle set for injection, related to the pattern of the wrist, forearm, elbow, and shoulder tremor for each patient, and the incobotulinumtoxinA dose per muscle (total ≤ 200 U). Fahn-Tolosa-Marin (FTM) Part B motor performance score, Global Impression of Change Scale (GICS), and kinematic analysis-based efficacy evaluations were assessed. Thirty patients were randomized (incobotulinumtoxinA, = 19; placebo, = 11). FTM motor performance scores showed greater improvement with incobotulinumtoxinA versus placebo at Week 4 ( 0.003) and Week 8 ( 0.031). The physician-rated GICS score indicated improvement with incobotulinumtoxinA versus placebo at Week 4 ( < 0.05). IncobotulinumtoxinA also decreased accelerometric hand-tremor amplitude versus placebo from baseline to Week 4 ( 0.004) and Week 8 ( < 0.001), with persistent tremor reduction up to 24 weeks post-injection. IncobotulinumtoxinA produced a slight and transient reduction of maximal grip strength versus placebo; two patients reported localized finger muscle weakness. Customized incobotulinumtoxinA injections decreased tremor severity and improved hand motor function in patients with upper-limb ET after a single injection cycle, with a favorable tolerability profile. The study showed that tremor kinematic analytics technology could be successfully scaled for use in other clinical sites.
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http://dx.doi.org/10.3390/toxins12120807DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7766785PMC
December 2020

Alcohol-Responsive Hyperkinetic Movement Disorders-a Mechanistic Hypothesis.

Tremor Other Hyperkinet Mov (N Y) 2020 10 21;10:47. Epub 2020 Oct 21.

NYU Grossman School of Medicine, Division of Movement Disorders, New York, NY, US.

Patients with essential tremor, vocal tremor, torticollis, myoclonus-dystonia and posthypoxic myoclonus often benefit in a surprisingly rapid and robust manner from ingestion of a modest amount of alcohol (ethanol). Despite considerable investigation, the mechanism of ethanol's ability to produce this effect remains a mystery. In this paper, we review the pharmacology of ethanol and its analogue GHB (or sodium oxybate), summarize the published literature of alcohol-responsive hyperkinetic movement disorders, and demonstrate videos of patients we have treated over the last fifteen years with either an ethanol challenge or with chronic sodium oxybate therapy. We then propose a novel explanation for this phenomenon-namely, that ingestion of doses of ethanol (or sodium oxybate) normalizes the aberrant motor networks underling these disorders. We propose that alcohol and its analogues improve clinical symptoms and their physiologic correlate by restoring the normal firing pattern of the major outflow pathways of the cerebellum (the Purkinje cells and deep cerebellar nuclei), We present evidence to support this hypothesis in animal models and in affected patients, and suggest future investigations to test this model.
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http://dx.doi.org/10.5334/tohm.560DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7597582PMC
October 2020

PPP2R5D Genetic Mutations and Early-Onset Parkinsonism.

Ann Neurol 2021 01 5;89(1):194-195. Epub 2020 Nov 5.

Department of Neurology, Parkinson's Disease and Movement Disorders Center, University of Pennsylvania, Philadelphia, PA, USA.

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http://dx.doi.org/10.1002/ana.25943DOI Listing
January 2021

Unilateral leg freezing in moyamoya syndrome.

Parkinsonism Relat Disord 2020 09 31;78:96-97. Epub 2020 Jul 31.

Division of Neurology, Department of Medicine, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2020.06.024DOI Listing
September 2020

Dramatic Response to Pramipexole in Delayed-Onset Parkinsonism from Osmotic Demyelinating Syndrome.

Tremor Other Hyperkinet Mov (N Y) 2020 06 16;10. Epub 2020 Jun 16.

Department of Neurology, NYU Grossman School of Medicine, US.

Background: Delayed parkinsonism and dystonia are recognized phenomena in osmotic demyelinating syndrome (ODS). Dopamine receptor agonists and levodopa have been reported to benefit select patients.

Case Report: We report a patient with ODS with severe pseudobulbar deficits, parkinsonism and dystonia, poorly responsive to levodopa, who experienced a remarkable improvement with pramipexole.

Discussion: A marked response to pramipexole with lack of response to levodopa suggests a pre-synaptic source for his deficits coupled with injuries to non-nigral compensatory structures.

Highlights: This case highlights a dramatic response of osmotic demyelination-induced parkinsonism/dystonia to pramipexole. A lack of response to levodopa suggests deficits in the pre-synaptic nigral as well as non-nigral compensatory structures.
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http://dx.doi.org/10.5334/tohm.66DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7394193PMC
June 2020

Rapid picture naming in Parkinson's disease using the Mobile Universal Lexicon Evaluation System (MULES).

J Neurol Sci 2020 Mar 9;410:116680. Epub 2020 Jan 9.

Departments of Neurology, New York University School of Medicine, New York, NY, USA; Departments of Population Health, New York University School of Medicine, New York, NY, USA; Departments of Ophthalmology, New York University School of Medicine, New York, NY, USA. Electronic address:

Objective: The Mobile Universal Lexicon Evaluation System (MULES) is a test of rapid picture naming that captures extensive brain networks, including cognitive, language and afferent/efferent visual pathways. MULES performance is slower in concussion and multiple sclerosis, conditions in which vision dysfunction is common. Visual aspects captured by the MULES may be impaired in Parkinson's disease (PD) including color discrimination, object recognition, visual processing speed, and convergence. The purpose of this study was to compare MULES time scores for a cohort of PD patients with those for a control group of participants of similar age. We also sought to examine learning effects for the MULES by comparing scores for two consecutive trials within the patient and control groups.

Methods: MULES consists of 54 colored pictures (fruits, animals, random objects). The test was administered in a cohort of PD patients and in a group of similar aged controls. Wilcoxon rank-sum tests were used to determine statistical significance for differences in MULES time scores between PD patients and controls. Spearman rank-correlation coefficients were calculated to examine the relation between MULES time scores and PD motor symptom severity (UPDRS). Learning effects were assessed using Wilcoxon rank-sum tests.

Results: Among 51 patients with PD (median age 70 years, range 52-82) and 20 disease-free control participants (median age 67 years, range 51-90), MULES scores were significantly slower (worse performance) in PD patients (median 63.2 s, range 37.3-296.3) vs. controls (median 53.9 s, range 37.5-128.6, P = .03, Wilcoxon rank-sum test). Slower MULES times were associated with increased motor symptom severity as measured by the Unified Parkinson's Disease Rating Scale, Section III (r = 0.37, P = .02). Learning effects were greater among patients with PD (median improvement of 14.8 s between two MULES trials) compared to controls (median 7.4 s, P = .004).

Conclusion: The MULES is a complex test of rapid picture naming that captures numerous brain pathways including an extensive visual network. MULES performance is slower in patients with PD and our study suggests an association with the degree of motor impairment. Future studies will determine the relation of MULES time scores to other modalities that test visual function and structure in PD.
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http://dx.doi.org/10.1016/j.jns.2020.116680DOI Listing
March 2020

Essential tremor-plus: a controversial new concept.

Lancet Neurol 2020 03 22;19(3):266-270. Epub 2019 Nov 22.

National Neuroscience Institute, Singapore, Singapore.

In addition to redefining essential tremor (ET), the 2018 consensus statement of the Movement Disorder Society on tremor coined a new term: essential tremor-plus (ET-plus). This term is uncertainly defined as tremor with the characteristics of ET, with additional neurological signs of uncertain clinical significance. If ET-plus had been defined on the basis of a difference in underlying pathology or an appreciable difference in prognosis, it would have a valid, scientific rationale, as does the term Parkinson-plus. However, there is no such evidence, so the basis for the term is questionable. In fact, ET-plus might only represent a state condition (ie, patients with ET might develop these additional clinical features when the disease is at a more advanced stage). We caution against coining new terms that are not supported by a firm scientific basis and encourage research into the creation of essential tremor subsets that are defined with respect to differences in underlying causes or pathophysiology.
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http://dx.doi.org/10.1016/S1474-4422(19)30398-9DOI Listing
March 2020

Urodynamic Mechanisms Underlying Overactive Bladder Symptoms in Patients With Parkinson Disease.

Int Neurourol J 2019 Sep 30;23(3):211-218. Epub 2019 Sep 30.

Department of Urology, New York University School of Medicine, New York, NY, USA.

Purpose: To assess the urodynamic findings in patients with Parkinson disease (PD) with overactive bladder symptoms.

Methods: We performed a retrospective chart review of all PD patients who were seen in an outpatient clinic for lower urinary tract symptoms (LUTS) between 2010 and 2017 in a single-institution. Only patients who complained of overactive bladder (OAB) symptoms and underwent a video-urodynamic study for these symptoms were included. We excluded patients with neurological disorders other than PD and patients with voiding LUTS but without OAB symptoms.

Results: We included 42 patients (29 men, 13 women, 74.5±8.1 years old). Seven patients (16.7%) had a postvoid residual (PVR) bladder volume >100 mL and only one reported incomplete bladder emptying. Detrusor overactivity (DO) was found in all 42 patients (100%) and was terminal in 19 (45.2%) and phasic in 22 patients (52.4%). Eighteen patients had detrusor underactivity (DU) (42.3%). Later age of PD diagnosis was the only parameter associated with DU (P=0.02). Patients with bladder outlet obstruction (BOO) were younger than patients without BOO (70.1 years vs. 76.5 years, P=0.004), had later first sensation of bladder filling (173.5 mL vs. 120.3 mL, P=0.02) and first involuntary detrusor contraction (226.4 mL vs. 130.4 mL, P=0.009).

Conclusion: DO is almost universal in all patients with PD complaining of OAB symptoms (97.1%). However, a significant percentage of patients also had BOO (36.8%), DU (47%), and increased PVR (16.7%) indicating that neurogenic DO may not be the only cause of OAB symptoms in PD patients.
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http://dx.doi.org/10.5213/inj.1938086.043DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6790817PMC
September 2019

Increasing Evidence for the Use of Sodium Oxybate in Multi-Drug-Resistant Lance-Adams Syndrome.

Tremor Other Hyperkinet Mov (N Y) 2019 17;9. Epub 2019 Jun 17.

The Marlene and Paolo Fresco Institute for Parkinson's and Movement Disorders, Department of Neurology, New York University School of Medicine, New York, NY, USA.

Background: Treatment of posthypoxic myoclonus (PHM) can be a challenge in patients not responsive to first-line medications. PMH is a rare condition that has a dramatic impact on patients' quality of life. Refractory cases are not uncommon.

Case Report: We report a patient with PHM non-responsive to conventional treatments who showed a dramatic improvement with sodium oxybate (SBX). Cases of PHM treated with SBX reported in the literature were reviewed.

Discussion: Resting and stimulus-induced myoclonus respond robustly to SBX, with significant improvement in patients' quality of life. SBX may be considered in patients with PHM resistant to first-line medications.
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http://dx.doi.org/10.7916/d8-rnsh-c024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6691605PMC
January 2020

Editorial: Update on movement disorders.

Curr Opin Neurol 2019 08;32(4):564-565

NYU School of Medicine, New York, New York, USA.

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http://dx.doi.org/10.1097/WCO.0000000000000709DOI Listing
August 2019

Clinical Reasoning: A 55-year-old obese woman with headache and rhinorrhea.

Neurology 2019 05;92(22):e2614-e2617

From the Department of Neurology, NYU School of Medicine, New York, NY.

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http://dx.doi.org/10.1212/WNL.0000000000007582DOI Listing
May 2019

Early-onset pathologically proven multiple system atrophy with LRRK2 G2019S mutation.

Mov Disord 2019 07 11;34(7):1080-1082. Epub 2019 May 11.

Fresco Institute for Parkinson's and Movement Disorders, Department of Neurology, New York University School of Medicine, New York, New York, USA.

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http://dx.doi.org/10.1002/mds.27710DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6642007PMC
July 2019

Transcranial magnetic stimulation therapy for focal leg dystonia: a case report.

J Clin Mov Disord 2019 8;6. Epub 2019 Mar 8.

1The Marlene and Paolo Fresco Institute for Parkinson's and Movement Disorders, NYU School of Medicine, 222 E 41st Street, 13th Floor, New York, NY 10017 USA.

Background: Dystonia is a debilitating disease that causes abnormal, often repetitive, movements, postures or both. The pathophysiology is unknown but related to loss of neuronal inhibition, aberrant sensorimotor integration, and/or derangements of synaptic plasticity. Current treatments include pharmacotherapy, botulinum toxin injections and deep brain stimulation (DBS). The response to these treatments are often limited and carry the risk of side effects requiring alternative therapies such as non-invasive brain stimulation.

Case Presentation: We present a case report of a 65-year -old man with refractory focal 'task-specific' dystonia. The treatment plan included 10-daily sessions of 1 Hz, 2600 pulses of repetitive transcranial magnetic stimulation (rTMS) targeting the primary motor cortex.

Conclusion: There were no clinical benefits noticed. Currently, there are no rTMS protocol treatments for dystonia. Publication of negative results will help in refining the optimal stimulation parameters, thus maximizing the effectiveness and reproducibility of future therapeutic protocols.
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http://dx.doi.org/10.1186/s40734-019-0076-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6408853PMC
March 2019

An Update on Myoclonus Management.

Expert Rev Neurother 2019 04 20;19(4):325-331. Epub 2019 Mar 20.

a NYU Langone Health , The Marlene and Paolo Fresco Institute for Parkinson's and Movement Disorders, A Parkinson's Foundation Center of Excellence , New York , NY , USA.

Introduction: Myoclonus is a hyperkinetic movement disorder characterized by sudden, brief, lightning-like involuntary jerks. There are many possible causes of myoclonus and both the etiology and characteristics of the myoclonus are important in securing the diagnosis and treatment. Myoclonus may be challenging to treat, as it frequently requires multiple medications for acceptable results. Few randomized controlled trials investigating the optimal treatment for myoclonus are available, and expert experience and case series guide treatment. Areas Covered: In this article, the authors review the basics of myoclonus and its classification. The authors discuss the current management of myoclonus and then focus on recent updates in the literature, including both pharmacologic and surgical options. Expert opinion: Myoclonus remains a challenge to manage, and there is a paucity of rigorous clinical trials guiding treatment paradigms. Furthermore, due to the etiological heterogeneity of myoclonus, defining the appropriate scope for high-quality clinical trials is challenging. In order to advance the field, the myoclonus study group needs to be revived in the US and abroad so that interested investigators can collaborate on multicenter clinical trials for myoclonus treatments.
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http://dx.doi.org/10.1080/14737175.2019.1592676DOI Listing
April 2019

Functional and structural neural bases of task specificity in isolated focal dystonia.

Mov Disord 2019 04 6;34(4):555-563. Epub 2019 Mar 6.

Department of Otolaryngology, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, USA.

Background: Task-specific focal dystonias selectively affect movements during the production of highly learned and complex motor behaviors. Manifestation of some task-specific focal dystonias, such as musician's dystonia, has been associated with excessive practice and overuse, whereas the etiology of others remains largely unknown.

Objectives: In this study, we aimed to examine the neural correlates of task-specific dystonias in order to determine their disorder-specific pathophysiological traits.

Methods: Using multimodal neuroimaging analyses of resting-state functional connectivity, voxel-based morphometry and tract-based spatial statistics, we examined functional and structural abnormalities that are both common to and distinct between four different forms of task-specific focal dystonias.

Results: Compared to the normal state, all task-specific focal dystonias were characterized by abnormal recruitment of parietal and premotor cortices that are necessary for both modality-specific and heteromodal control of the sensorimotor network. Contrasting the laryngeal and hand forms of focal dystonia revealed distinct patterns of sensorimotor integration and planning, again involving parietal cortex in addition to inferior frontal gyrus and anterior insula. On the other hand, musician's dystonia compared to nonmusician's dystonia was shaped by alterations in primary and secondary sensorimotor cortices together with middle frontal gyrus, pointing to impairments of sensorimotor guidance and executive control.

Conclusion: Collectively, this study outlines a specialized footprint of functional and structural alterations in different forms of task-specific focal dystonia, all of which also share a common pathophysiological framework involving premotor-parietal aberrations. © 2019 International Parkinson and Movement Disorder Society.
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http://dx.doi.org/10.1002/mds.27649DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6945119PMC
April 2019

Billiards-related dystonia: A new task-specific dystonia.

Authors:
Steven J Frucht

Parkinsonism Relat Disord 2019 03 21;60:12-13. Epub 2019 Feb 21.

NYU School of Medicine, New York, NY, USA. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2019.02.023DOI Listing
March 2019

The "Stutter-Step": A Peculiar Gait Feature in Advanced Huntington's Disease and Chorea-Acanthocytosis.

Mov Disord Clin Pract 2018 Mar-Apr;5(2):223-224. Epub 2018 Feb 15.

Movement Disorder Division, Neurology Department New York University School of Medicine New York New York USA.

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http://dx.doi.org/10.1002/mdc3.12586DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6336370PMC
February 2018

Correction to: Medical treatment of dystonia.

J Clin Mov Disord 2018 16;5. Epub 2018 Nov 16.

1Movement Disorder Division, Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, USA.

[This corrects the article DOI: 10.1186/s40734-016-0047-6.].
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http://dx.doi.org/10.1186/s40734-018-0075-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6238387PMC
November 2018

A novel therapeutic agent, sodium oxybate, improves dystonic symptoms via reduced network-wide activity.

Sci Rep 2018 10 31;8(1):16111. Epub 2018 Oct 31.

School of Health and Rehabilitation Sciences, Speech Pathology, The University of Queensland, Brisbane, Queensland, Australia.

Oral medications for the treatment of dystonia are not established. Currently, symptoms of focal dystonia are managed with botulinum toxin injections into the affected muscles. However, the injection effects are short-lived and not beneficial for all patients. We recently reported significant clinical improvement of symptoms with novel investigational oral drug, sodium oxybate, in patients with the alcohol-responsive form of laryngeal focal dystonia. Understanding the mechanism of action of this promising oral agent holds a strong potential for the development of a scientific rationale for its use in dystonia. Therefore, to determine the neural markers of sodium oxybate effects, which may underlie dystonic symptom improvement, we examined brain activity during symptomatic speech production before and after drug intake in patients with laryngeal dystonia and compared to healthy subjects. We found that sodium oxybate significantly attenuated hyperfunctional activity of cerebellar, thalamic and primary/secondary sensorimotor cortical regions. Drug-induced symptom improvement was correlated with decreased-to-normal levels of activity in the right cerebellum. These findings suggest that sodium oxybate shows direct modulatory effects on disorder pathophysiology by acting upon abnormal neural activity within the dystonic network.
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http://dx.doi.org/10.1038/s41598-018-34553-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6208333PMC
October 2018

Steroid-responsive Encephalopathy Associated with Autoimmune Thyroiditis (SREAT) Presenting with Pure Cerebellar Ataxia.

Tremor Other Hyperkinet Mov (N Y) 2018 9;8:585. Epub 2018 Aug 9.

Neurology Division, Department of Medicine, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand.

Background: Myoclonus and tremor are common movement disorder phenomenologies in steroid-responsive encephalopathy associated with autoimmune thyroiditis (SREAT). Pure ataxia without encephalopathy has rarely been reported.

Case Report: We report 21- and 40-year-old females who presented with subacute pure ataxia without encephalopathy. After immunotherapies, both exhibited initial improvement of ataxia, and subsequently remained in plateau phase.

Discussion: This treatable disorder should be added to the differential diagnoses of progressive cerebellar ataxia, and anti-thyroid peroxidase and anti-thyroglobulin should be considered as part of the workup. It is crucial not to misdiagnose SREAT presenting with pure cerebellar ataxia as degenerative or spinocerebellar ataxia.
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http://dx.doi.org/10.7916/D8CZ4QQQDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6125737PMC
November 2018

Mirabegron in patients with Parkinson disease and overactive bladder symptoms: A retrospective cohort.

Parkinsonism Relat Disord 2018 12 20;57:22-26. Epub 2018 Jul 20.

Department of Urology, New York University School of Medicine, New York, USA.

Introduction: This study aimed to assess the outcomes of mirabegron for the treatment of overactive bladder (OAB) symptoms in patients with Parkinson disease (PD).

Methods: A retrospective study was conducted including patients with PD who received mirabegron 50 mg once daily for OAB symptoms between 2012 and 2017. The primary endpoint was clinical success defined as any improvement in overactive bladder symptoms self-assessed by the patients 6 weeks after mirabegron initiation. Secondary endpoints included number of pads per day, number of nocturia episodes and adverse events.

Results: Fifty patients (mean 74 years old) were included. Before being treated with mirabegron, 56% had failed prior anticholinergic therapy. After 6 weeks of mirabegron 50 mg, five patients (11.4%) had a complete resolution of their OAB symptoms; 25 patients (50%) reported improvement, 23 (46%) reported no change and 2(4%) reported worsening of their OAB symptoms. The number of pads per day decreased from 1.5 to 0.9 (p = 0.01) and so did the number of nocturia episodes (from 3 to 2.6/night; p = 0.02). Only 2 adverse events were reported during mirabegron treatment (4%): one dizziness and one diaphoresis, that disappeared after mirabegron discontinuation. After a median follow-up of 19 months, 23 patients (46%) persisted on mirabegron. Persistence rates were 51.5%, 44.6% and 36.4% at 1, 2 and 3 years respectively.

Conclusion: Mirabegron has an excellent safety profile and appears to be an effective treatment for overactive bladder symptoms in patients with PD. Further prospective randomized trials are needed to properly assess mirabegron in PD patients.
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http://dx.doi.org/10.1016/j.parkreldis.2018.07.005DOI Listing
December 2018

Outcomes of intradetrusor onabotulinum toxin A injection in patients with Parkinson's disease.

Neurourol Urodyn 2018 11 16;37(8):2669-2677. Epub 2018 May 16.

Department of Urology, New York University School of Medicine, New York, New York.

Objective: To assess the safety and efficacy of intradetrusor onabotulinum toxin A injections for the treatment of overactive bladder (OAB) in patients with Parkinson's disease (PD).

Methods: All PD patients who underwent intradetrusor injections of onabotulinum toxin A (BoNT-A) for storage symptoms between 2010 and 2017 were included in a retrospective study. A 100 U dose of BoNT-A (Botox®, Allergan Irvine, CA) was used for the first injection in all patients. The primary endpoint was clinical success defined as any subjective improvement in OAB symptoms self-assessed by the patients 4 weeks after the injections.

Results: Out of 24 patients analyzed, 19 reported improvement of their OAB symptoms 4 weeks after the first injection (79.2%) with complete resolution of urgency urinary incontinence in seven patients (29.1%; P < 0.001). The average post-void residual (PVR) increased significantly after the first injection from 17.6 to 125.3 mL (P < 0.001). Three of the patients had to start clean intermittent catheterization (CIC) after the first injection (12.5%). Out of 49 injections in total, only five caused incomplete bladder emptying requiring the use of CIC (10.2%). Higher pre-injection PVR was significantly associated with both a lower chance of symptomatic improvement (P = 0.04) and a higher risk of incomplete bladder emptying with institution of CIC (P = 0.047).

Conclusion: Intradetrusor injections of BoNT-A 100 U appeared as a safe and effective option in PD patients with OAB symptoms and a low PVR before the injection. Higher preoperative PVR was the strongest predictor of both treatment failure and postoperative urinary retention requiring CIC.
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http://dx.doi.org/10.1002/nau.23717DOI Listing
November 2018

Simultaneous Treatment of Epilepsy and Secondary Dystonia After Anterior Temporal Lobectomy and Amygdalohippocampectomy.

World Neurosurg 2018 Sep 9;117:439-442. Epub 2018 Apr 9.

Department of Neurosurgery, Mount Sinai Hospital, New York, New York, USA. Electronic address:

Background: The relationship between temporal lobe epilepsy and focal limb dystonia is a well-recognized phenomenon, yet its pathogenesis and anatomic foundation are not well understood. Here, we describe 2 patients with refractory focal epilepsy and contralateral focal limb dystonia whose seizures and dystonic symptoms simultaneously resolved after anterior temporal lobectomy and amygdalohippocampectomy.

Case Description: We identified 2 patients within the Mount Sinai Health system with improvement in dystonia after medial temporal lobectomy. Retrospective chart reviews for the clinical history were performed. Patient 1 suffered a traumatic injury of the right temporal lobe, developing left hemidystonia and epilepsy. He received a right amygdala-hippocampectomy, which resolved both. Patient 2 has a history of right temporal glioma resection complicated by an infarct, resulting in left hemidystonia and epilepsy. He received a right medial temporal resection, which nearly resolved both.

Conclusion: Our cases demonstrate a medial temporal-basal ganglia network dysfunction in dystonia-epilepsy that was modulated and cured by resective surgery. We hypothesize that the mechanisms behind these observed phenomena were due to a pathologic connectivity of the basal ganglia and amygdala-hippocampus. To our knowledge, these are the first reported cases of dystonia and concomitant epilepsy resolving with temporal lobectomy and provide valuable prognostic information for similarly affected patients.
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http://dx.doi.org/10.1016/j.wneu.2018.04.003DOI Listing
September 2018

Future of Neurologic Examination in Clinical Practice.

Authors:
Steven J Frucht

JAMA Neurol 2018 03;75(3):383-384

Neurology, New York University Langone Medical Center, New York.

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http://dx.doi.org/10.1001/jamaneurol.2017.5001DOI Listing
March 2018

Primary progressive apraxia: an unusual ideomotor syndrome.

J Clin Mov Disord 2017 14;4:17. Epub 2017 Nov 14.

Mount Sinai, 5 East 98 street 1st floor, New York, NY 10029 USA.

Background: Primary progressive apraxia is a rare form of apraxia in the absence of dementia which develops insidiously and is slowly progressive. Most reports of patients with apraxia also describe coexisting aphasias or involve additional apraxias with affected speech, usually in the setting of neurodegenerative diseases such as corticobasal degeneration, Alzheimer's disease or frontotemporal dementia. The aim of this report is to describe and demonstrate by video two cases of isolated primary progressive ideomotor apraxia seen in our clinic.

Case Presentation: We describe two patients with 2-5 years of progressive difficulty using their hands, despite having intact cognition and lack of correlating lesions on imaging.

Conclusion: We report two cases of primary progressive apraxia that may be early presentations of taupathic disease in both patients. In both cases, there is isolated profound ideomotor apraxia of the hands, with preserved cognition, language skills, muscle power and tone, and gait. There are no correlating lesions on imaging.
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http://dx.doi.org/10.1186/s40734-017-0064-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5771468PMC
November 2017

An unusual presentation of tyrosine hydroxylase deficiency.

J Clin Mov Disord 2017 5;4:18. Epub 2017 Dec 5.

Movement Disorders Division, Department of Neurology, Mount Sinai Hospital, 5 E 98th Street, 1st floor, New York, NY 10029 USA.

Background: Dopa-responsive dystonia (DRD) has largely been associated with autosomal dominant mutations in the GCH1 gene leading to GTP cyclohydrolase 1 deficiency. More recently, a deficiency in tyrosine hydroxylase (TH) has been recognized to cause DRD. This is a rare disorder resulting from genetic mutations in the TH gene on chromosome 11. The phenotype ranges from DRD with complete resolution on levodopa to infantile parkinsonism and encephalopathy only partially responsive to levodopa. Here we discuss an adult with TH deficiency with a history of possible parkinsonism and dystonia responsive to levodopa, notable for a residual dynamic segmental dystonia.

Case Presentation: Our patient grew up in rural Myanmar with limited medical care. Childhood was normal except for episodic illness with difficulty moving and speaking. At 18 years he developed difficulty writing. At 21 years he could not speak, walk, or write and was taken to a city hospital. Multiple medications were tried without benefit until he received carbidopa/levodopa, to which he had a miraculous response. Since then he has attempted to come off medication, however after several weeks his symptoms returned. On presentation to us at 31 years he was taking 450 mg levodopa/day and 4 mg trihexyphenidyl/day. He had a dynamic dystonia in his neck and trunk, subtle at rest and prominent with walking. He exhibited a sensory trick when touching his hand to his chin; improvement occurred to a lesser degree when he imagined touching his chin, and to an even lesser degree when the examiner touched his chin. He had no parkinsonism. He underwent genetic testing which revealed a homozygous variant mutation in the TH gene (p.Thr494Met) leading to a diagnosis of autosomal recessive tyrosine hydroxylase deficiency.

Conclusions: TH deficiency can cause a broad range of clinical symptoms and severity. As more cases are discovered, the phenotype expands. Here we describe a unique case of DRD and possible parkinsonism due to TH deficiency with residual symptoms of dystonia that was task dependent and responded to a sensory trick. In addition, while the history is limited, it is possible he may have had episodes similar to "lethargy-irritability crises" seen in more severe cases. In large part he fits within the milder form of TH hydroxylase deficiency.
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http://dx.doi.org/10.1186/s40734-017-0065-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5716367PMC
December 2017

Phenomenology, genetics, and CNS network abnormalities in laryngeal dystonia: A 30-year experience.

Laryngoscope 2018 01 8;128 Suppl 1:S1-S9. Epub 2017 Dec 8.

Department of Neurology, Icahn School of Medicine at Mt. Sinai, New York, New York.

Objective: Laryngeal dystonia (LD) is a functionally specific disorder of the afferent-efferent motor coordination system producing action-induced muscle contraction with a varied phenomenology. This report of long-term studies aims to review and better define the phenomenology and central nervous system abnormalities of this disorder and improve diagnosis and treatment.

Methods: Our studies categorized over 1,400 patients diagnosed with LD over the past 33 years, including demographic and medical history records and their phenomenological presentations. Patients were grouped on clinical phenotype (adductor or abductor) and genotype (sporadic and familial) and with DNA analysis and functional magnetic resonance imaging (fMRI) to investigate brain organization differences and characterize neural markers for genotype/phenotype categorization. A number of patients with alcohol-sensitive dystonia were also studied.

Results: A spectrum of LD phenomena evolved: adductor, abductor, mixed, singer's, dystonic tremor, and adductor respiratory dystonia. Patients were genetically screened for DYT (dystonia) 1, DYT4, DYT6, and DYT25 (GNAL)-and several were positive. The functional MRI studies showed distinct alterations within the sensorimotor network, and the LD patients with a family history had distinct cortical and cerebellar abnormalities. A linear discriminant analysis of fMRI findings showed a 71% accuracy in characterizing LD from normal and in characterizing adductor from abductor forms.

Conclusion: Continuous studies of LD patients over 30 years has led to an improved understanding of the phenomenological characteristics of this neurological disorder. Genetic and fMRI studies have better characterized the disorder and raise the possibility of making objective rather than subjective diagnoses, potentially leading to new therapeutic approaches. Laryngoscope, 128:S1-S9, 2018.
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http://dx.doi.org/10.1002/lary.27003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5757628PMC
January 2018

Velopharyngeal Dystonia: An Unusual Focal Task-specific Dystonia?

Tremor Other Hyperkinet Mov (N Y) 2017 11;7:365. Epub 2017 Jul 11.

Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

Background: Velopharyngeal dysfunction produces a nasal speech pattern because of the inability to close the nasal airway during speech, most often associated with anatomical abnormalities of the palate.

Case Report: We describe two cases of possible velopharyngeal dystonia, a task-specific movement disorder causing a speech pattern similar to velopharyngeal dysfunction. Both patients experienced treatment response with anticholinergic medication.

Discussion: Dystonia affecting speech via involvement of the pharyngeal musculature may be an unrecognized etiology of voice disorders.
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http://dx.doi.org/10.7916/D8611961DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5626921PMC
March 2018