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

• Type: Article in International Scientific Journal
• Date: 2001

Authors

Jardim, LB (Author) Other; Silveira, I (Author) Other; Pereira, ML (Author) Other; Ferro, A (Author) Other; Alonso, I (Author) Other; Moreira, MDC (Author) Other; Mendonca, P (Author) Other; Fátima Ferreirinha (Author) Other; Sequeiros, J (Author) ICBAS; Giugliani, R (Author) Other

Journal

Title: Journal of Neurology

Vol. 248

Pages: 870-876

ISSN: 0340-5354

Publisher: Springer Nature

Indexing

ISI Web of Knowledge - 40 Citations

Scopus - 55 Citations

Other information

Authenticus ID: P-000-T5Z

DOI: 10.1007/s004150170072

Abstract (EN): Background The autosomal dominant spinocerebellar ataxias (SCAs) are a clinical and genetically heterogeneous group of debilitating, neuro degenerative 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 South Brazil and (2) to compare their molecular and clinical characteristics with other patients previously described. Methods sixty-six cases were included in the present study: 52 were familial and 14 sporadic. Molecular analysis of the trinucleotide repeat loci were performed according to methods in the literature. Results 92 % of families with autosomal dominant inheritance segregated the MJD I mutation, 2 % of families segregated the SCA7 mutation and 6 % remained undiagnosed. Among 14 isolated cases, one showed the SCA8 mutation. Clinical and molecular findings were similar to those already described in the literature, but revealed (1) one SCA7 patient with eyelid retraction, a sign usually related to MJD; and (2) one sporadic case of SCA8. Conclusions The proportion of MJD cases was very high, probably reflecting an Azorean founder effect. The estimated frequency of affected individuals with MJD, in our region, was 1.8 / 100,000, and of SCAs other than MJD, 0.2/100,000.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 7