Article

Spinocerebellar ataxia type 4 is caused by a GGC expansion in the<i>ZFHX3</i>gene and is associated with prominent dysautonomia and motor neuron signs

2023-10-03

Abstract excerpt

<h4>Background</h4> Spinocerebellar ataxias (SCAs) are a group of heterogeneous autosomal dominant disorders. Spinocerebellar ataxia 4 (SCA4), one of the rarest SCAs, is characterized by adult-onset ataxia, polyneuropathy and linked to chromosome 16q22.1, the underlying mutation remains to be discovered. <h4>Methods</h4> Three Swedish families affected by undiagnosed SCA went through detailed examinations, neuroph...

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Literature Corpus work: 35cbbdfc-ddd7-52da-9a0a-fa2cea56ffd2
DOI: 10.1101/2023.10.03.23296230

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