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Non-motor symptoms in patients with Spinocerebellar ataxia type 12

IntroductionSpinocerebellar ataxia type 12 (SCA12) is a rare autosomal dominant neurodegenerative disorder caused by abnormal CAG repeat expansion in the PPP2R2B gene. This disease is classically characterized by action tremor, dysarthria, ataxia, and hyperreflexia. There are limited reports regardi...

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Uloženo v:
Hlavní autoři: Purba Basu, Supriyo Choudhury, Siddhartha Sankar Mondal, Ummatul Siddique, Simin Rahman, Jacky Ganguly, Soumava Mukherjee, Nilam Singh, Mona Tiwari, Hrishikesh Kumar
Médium: Artigo
Jazyk:Inglês
Vydáno: Frontiers Media S.A. 2024-10-01
Edice:Frontiers in Neurology
Témata:
SCA12
cerebellum
non-motor features
CAG repeats
cognition
ataxia
On-line přístup:https://www.frontiersin.org/articles/10.3389/fneur.2024.1464149/full
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