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Article

Focal dystonia in a case of SYNE1 spastic-ataxia: Expanding the phenotypic spectrum.

Parkinsonism & related disorders - 1 Jun 2021

Holla Vikram V, Surisetti Bharath Kumar, Prasad Shweta, Pal Pramod Kumar

Abstract excerpt

Synaptic nuclear envelope protein-1 (SYNE1) related cerebellar ataxia also called ARCA1 or SCAR8, manifests as a relatively pure cerebellar ataxia or with additional neurological involvement. Dystonia is rarely seen in SYNE1 ataxia and to the best of our knowledge, there are only three reports of dystonia in patients with SYNE1 ataxia. This report describes a 22-year-old woman with chronic progressive...

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Identifiers

PMID: 33933852
DOI: 10.1016/j.parkreldis.2021.04.014

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Focal dystonia in a case of SYNE1 spastic-ataxia: Expanding the phenotypic spectrum.PMID 33933852Read ↗

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