Article

Clinical and Functional Characterization of a Novel STUB1 Mutation in a Chinese Spinocerebellar Ataxia 48 Pedigree

2024-08-27

Abstract excerpt

<title>Abstract</title> <p>Background Spinocerebellar ataxias (SCAs) encompass a wide spectrum of inherited neurodegenerative diseases, primarily characterized by pathological changes in the cerebellum, spinal cord, and brainstem degeneration. Autosomal dominant spinocerebellar ataxia type 48(SCA48) is a newly identified subtype of SCA, marked by early-onset ataxia and cognitive impairment, and is associated wit...

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Literature Corpus work: 2a3c906d-9236-5ce9-b100-ab43e07cdd9f
DOI: 10.21203/rs.3.rs-4814001/v1

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