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381


Early-onset pathologically proven multiple system atrophy with LRRK2 G2019S mutation [Letter]

Riboldi, Giulietta Maria; Palma, Jose-Alberto; Cortes, Etty; Iida, Megan A; Sikder, Tamjeed; Henderson, Brooklyn; Raj, Towfique; Walker, Ruth H; Crary, John F; Kaufmann, Horacio; Frucht, Steven
PMCID:6642007
PMID: 31077434
ISSN: 1531-8257
CID: 4028652

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

Conway, Jenna; Grossman, Scott; Varnado, Shelley; Frucht, Steven; Balcer, Laura; Minen, Mia; Galetta, Steven
PMID: 31133569
ISSN: 1526-632x
CID: 3976042

Editorial: Update on movement disorders [Editorial]

Svenningsson, Per; Frucht, Steven J
PMID: 31246704
ISSN: 1473-6551
CID: 3963852

Treatment of musicians' dystonia

Frucht, S J
Musicians' dystonia is an example of a focal task-specific dystonia, i.e., dystonia affecting one part of the body, only when it is engaged in performance of a specific task. Musicians' dystonia may involve the upper extremity (either the hand, arm, or shoulder) or the embouchure (the muscles of lower face, tongue, and pharynx that control the flow of air into a brass or woodwind instrument). Musicians' dystonia typically affects professionals at the peak of their performing careers, often with devastating consequences. Recent work has revealed that both genetic and environmental influences contribute to the development of the condition. Current treatments for musicians' dystonia include instrument modification, physical therapy, oral medication, injection of botulinum toxin, and even stereotactic surgery. Management remains challenging, and there is a need for more innovative approaches for treatment.
Copyright
EMBASE:628016732
ISSN: 1559-0585
CID: 3931712

Transcranial magnetic stimulation therapy for focal leg dystonia: a case report [Case Report]

Sharma, Kush; Cucca, Alberto; Lee, Andrea; Agarwal, Shashank; Frucht, Steven Joel; Biagioni, Milton Cesar
Background/UNASSIGNED: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/UNASSIGNED: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/UNASSIGNED: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.
PMCID:6408853
PMID: 30899540
ISSN: 2054-7072
CID: 3735292

An Update on Myoclonus Management

Stahl, Christine M; Frucht, Steven J
INTRODUCTION/BACKGROUND: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.
PMID: 30874443
ISSN: 1744-8360
CID: 3733502

Billiards-related dystonia: A new task-specific dystonia [Letter]

Frucht, Steven J
PMID: 30819558
ISSN: 1873-5126
CID: 3698642

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

Termsarasab, Pichet; Frucht, Steven J
PMID: 30746406
ISSN: 2330-1619
CID: 4113522

Focal Task- Specific Dystonia Affecting the Proximal Arm - An Under-Recognized Disorder? [Meeting Abstract]

Stahl, Christine; Frucht, Steven
ISI:000453090803383
ISSN: 0028-3878
CID: 3561792

THE ROLE OF NEURO-OPHTHALMOLOGY IN ATYPICAL PARKINSONISM: CLINICAL FINDINGS ON A STANDARDIZED OCULAR MOTOR EXAM [Meeting Abstract]

Seay, Meagan; Lee, Andrea; Frucht, Steven; Rucker, Janet
ISI:000453090804354
ISSN: 0028-3878
CID: 3561732