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Article

A survey of spinocerebellar ataxia in South Brazil - 66 new cases with Machado-Joseph disease, SCA7, SCA8, or unidentified disease-causing mutations.

Journal of neurology - 1 Oct 2001

Jardim L B, Silveira I, Pereira M L, Ferro A, Alonso I, do Céu Moreira M, Mendonça P, Ferreirinha F, Sequeiros J, Giugliani R

Abstract excerpt

BACKGROUND: The autosomal dominant spinocerebellar ataxias (SCAs) are a clinical and genetically heterogeneous group of debilitating, neurodegenerative diseases, related to fourteen different loci - SCAs 1, 2, 4, 5, 6, 7, 8, 10, 11,12,13 and 14, Machado-Joseph disease (MJD/SCA 3), and DRPLA. OBJECTIVES: (1) To verify the frequency of SCA1, SCA2, MJD, DRPLA, SCA6, SCA7 and SCA8 in a series of new SCA patients from...

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PMID: 11697524
DOI: 10.1007/s004150170072

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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