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A Case of Autosomal Dominant Ataxia with Vocal Cord Palsy Attributed to a Mutation in the PRNP Gene

Movement disorders clinical practice, Vol. 7, Issue 6, Pages 688-692, 2020

PMID: 32775516

Cerebellar ataxias, are a group progressively expanding spectrum of heterogeneous disorders. The clinical features and life expectancies are varied based on genetic and phenotypic presentations. 1 We present a familial case with an autosomal dominant inheritance of rapidly progressive ataxia with vocal cord palsy, due to D178N mutation in the PRNP gene.

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  https://www.ncbi.nlm.nih.gov/pubmed/32775516

 

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