Tremulous spastic ataxia in a patient with a homozygous truncating SYNE1 variant

Tremulous spastic ataxia in a patient with a homozygous truncating SYNE1 variant

We describe a case of severe adult-onset progressive tremulous cerebellar ataxia with pyramidal signs associated with a rare homozygous truncating pathogenic variant in the SYNE1 gene (p.Arg5371*). This contrasts the initial views on SYNE1-related ataxia as a relatively benign, slowly progressive co...

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Bibliographic Details
Main Authors: Francesca Spagnolo, Edoardo Monfrini, Vincenza Pinto, Giovanni Di Maggio, Paolo De Marco, Giacomo P. Comi, Augusto Rini, Alessio Di Fonzo
Format: Article
Language:English
Published: Elsevier 2023-01-01
Series:Clinical Parkinsonism & Related Disorders
Subjects:
SYNE1
ARCA
Ataxia
Spasticity
Tremor
Online Access:http://www.sciencedirect.com/science/article/pii/S2590112523000233

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http://www.sciencedirect.com/science/article/pii/S2590112523000233

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