A case of spinocerebellar ataxia type 28 with orthostatic tremor

A case of spinocerebellar ataxia type 28 with orthostatic tremor

Spinocerebellar ataxia (SCA) is a rare autosomal neurodegenerative disease. SCA28 is a rare subtype, caused by heterozygous mutation of the pathogenic gene AFG3L2. The clinical features usually include slowly progressive gait and limb ataxia, dysarthria, hyperreflexia of the lower limbs, gaze-evoked...

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Bibliographic Details
Main Authors: WANG Qunfeng, LIU Shihua
Format: Article
Language:zho
Published: Editorial Office of Journal of Shanghai Jiao Tong University (Medical Science) 2023-04-01
Series:Shanghai Jiaotong Daxue xuebao. Yixue ban
Subjects:
spinocerebellar ataxia
afg3l2 gene
missense mutation
m-aaa protease
Online Access:https://xuebao.shsmu.edu.cn/article/2023/1674-8115/1674-8115-2023-43-4-514.shtml

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