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Measurement & Analysis of the Temporal Discrimination Threshold Applied to Cervical Dystonia

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Published on: January 27, 2018

SCA2 presenting as a focal dystonia.

Nan Cheng¹, Heather M Wied², James J Gaul³

¹1Department of Neurology, University of Maryland School of Medicine, Baltimore, MD USA.

Journal of Clinical Movement Disorders

|August 21, 2018

Summary

Spinocerebellar ataxia 2 (SCA2), a neurodegenerative disorder, can rarely present with focal dystonia as the primary symptom, even with mild cerebellar signs. Deep brain stimulation in the GPi showed marked improvement in this case.

Area of Science:

Neurogenetics
Neurology
Movement Disorders

Background:

Spinocerebellar ataxia 2 (SCA2) is an autosomal dominant neurodegenerative disorder linked to CAG repeat expansions in the ATXN2 gene.

Keywords:

Deep brain stimulation Dystonia SCA2 Spinocerebellar Ataxia 2

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Typical SCA2 symptoms include adult-onset gait ataxia, dysarthria, and peripheral neuropathy, with dystonia usually appearing later in the disease course.