Article

Spinocerebellar Ataxia type 3 is rare in the Peruvian Population

2022-09-23

Abstract excerpt

Spinocerebellar ataxia type 3 or Machado-Joseph Disease (MJD/SCA3) is the most prevalent autosomal dominant cerebellar ataxia worldwide, but its frequency varies by geographic region. We describe MJD/SCA3 patients diagnosed in a tertiary healthcare institution in Peru. In a cohort of 341 individuals with clinical ataxia diagnosis, seven MJD/SCA3 probands were identified and their pedigrees extended, detecting a to...

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Literature Corpus work: 4a7fbfb5-b5b5-577d-8b78-1c9cc24eb832
DOI: 10.21203/rs.3.rs-2069341/v1

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