ArticleJournal of clinical movement disorders2018
SCA2 presenting as a focal dystonia.
Article in Journal of clinical movement disorders, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers, 1 of them a synthesis that pooled it.
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Who cites it
3 citing papers in PubMed, 1 synthesis or guideline pooled it, 5 citations in OpenAlex.
- Spectrum of Dystonia in Spinocerebellar Ataxia.Tremor and other hyperkinetic movements (New York, N.Y.) · 2026Pooled it
- Extracerebellar Signs and Symptoms in 117 Korean Patients with Early-Stage Spinocerebellar Ataxia.Journal of clinical neurology (Seoul, Korea) · 2021Article
- Rest tremor in dystonia: epidemiology, differential diagnosis, and pathophysiology.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2020Review
Corrections and comments
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Authors and funding
5 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundSpinocerebellar ataxia 2 (SCA2) is an autosomal dominant neurodegenerative disorder caused by CAG repeat expansions in CASE PRESENTATION: A 43-year-old right handed woman presented with focal dystonia of the right hand which started two years earlier with difficulty writing. There were only mild cerebellar signs. Her mother was reported to have a progressive gait disorder and we subsequently learned that she had SCA2. A total of 10 maternal family members were similarly affected. Over the course of 10 years, the patient's cerebellar signs progressed only mildly however the dystonia worsened to the extent of inability to use her right hand. Dystonia did not improve significantly with botulinum toxin, levodopa or trihexyphenidyl, but has shown marked improvement since DBS implantation in the GPi.
conclusionsWe describe a patient with SCA2 who presented with focal dystonia of the right upper extremity. Subtle cerebellar signs as well as the family history became especially important given the absence of predominant gait ataxia. Our case emphasizes that focal dystonia is not only a feature of SCA2, but can also rarely be the presenting sign as well as the most prominent feature during the disease course.
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