Frequency of the different mutations causing spinocerebellar ataxia (SCA1, SCA2, MJD/SCA3 and DRPLA) in a large group of Brazilian patients

Freqüência das mutações que causam ataxia espinocerebelar (SCA1, SCA2, MJD/SCA3 e DRPLA) em um grupo numeroso de pacientes Brasileiros

Frequency of the different mutations causing spinocerebellar ataxia (SCA1, SCA2, MJD/SCA3 and DRPLA) in a large group of brazilian patients

Freqüência das mutações que causam ataxia espinocerebelar (SCAl, SCA2, MJD/SCA3 e DRPLA) em um grupo numeroso de pacientes brasileiros

Iscia Lopes-Cendesi^I; Hélio G.A. Teive^II; Maria E Calcagnotto^III; Jaderson C. da Costa^III; Francisco Cardoso^IV; Erika Viana^IV; Jaime A. Maciel^V; João Radvany^VI; Walter O. Arruda^I; Paulo C.Trevisol-Bittencourt^VII; Pedro Rosa Neto^VIII; Isabel Silveira^I; Carlos E. Steiner^IX; Walter Pinto-Júnior^IX; André S. Santos^X; Ylmar Correa Neto^XII; Lineu C. Werneck^II; Abelardo Q.C. Araújo^XI; Gerson Carakushansky^XII; Luiz R. Mello^XIII; Laura B. Jardim^XIV; Guy A. Rouleau^I

^ICentre for Research in Neuroscience and The Montreal General Hospital; McGill University, Montreal, QC, Canada

^IIServiço de Neurologia, Hospital de Clínicas, Universidade Federal do Paraná, Curitiba, PR, Brasil

^IIIDepartamento de Neurologia, Hospital Universitário São Lucas, Pontifícia Universidade Católica do Rio Grande do Sul, Porto Alegre, RS, Brasil

^IVDepartamento de Neurologia, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brasil

^VDepartamento de Neurologia, Faculdade de Ciências Médicas (FCM), Universidade Estadual de Campinas (UNICAMP), Campinas, SP, Brasil

^VINeurologia, Hospital Albert Einstein, São Paulo, SP, Brasil

^VIIServiço de Neurologia, Hospital Universitário da Universidade Federal de Santa Catarina, Florianópolis, SC, Brasil

^VIIIDepartment of Neurology, Dongkwangju Hospital, Kwangju, Korea

^IXDepartamento de Genética Médica, FCM, UNICAMP, SP, Brasil

^XNeurologista, Hospital de Caridade, Florianópolis, SC, Brasil

^XIDepartamento de Neurologia, Universidade Federal do Rio de Janeiro, Rio de Janeiro, RJ, Brasil

^XIIDepartamento de Genética Médica, Universidade Federal do Rio de Janeiro, Rio de Janeiro, RJ, Brasil

^XIIIServiço de Neurocirurgia, Universidade Regional de Blumenau, Blumenau, SC, Brasil

^XIVUnidade de Genética Médica, Hospital de Clínicas de Porto Alegre, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brasil

ABSTRACT

Spinocerebellar ataxia type 1 (SCA1), spinocerebellar ataxia type 2 (SCA2) and Machado-Joseph disease or spinocerebellar ataxia type 3 (MJD/SCA3) are three distinctive forms of autosomal dominant spinocerebellar ataxia (SCA) caused by expansions of an unstable CAG repeat localized in the coding region of the causative genes. Another related disease, dentatorubropallidoluysian atrophy (DRPLA) is also caused by an unstable triplet repeat and can present as SCA in late onset patients. We investigated the frequency of the SCA1, SCA2, MJD/SCA3 and DRPLA mutations in 328 Brazilian patients with SCA, belonging to 90 unrelated families with various patterns of inheritance and originating in different geographic regions of Brazil. We found mutations in 35 families (39%), 32 of them with a clear autosomal dominant inheritance. The frequency of the SCA1 mutation was 3% of all patients; and 6 % in the dominantly inherited SCAs. We identified the SCA2 mutation in 6% of all families and in 9% of the families with autosomal dominant inheritance. The MJD/SCA3 mutation was detected in 30 % of all patients; and in the 44% of the dominantly inherited cases. We found no DRPLA mutation. In addition, we observed variability in the frequency of the different mutations according to geographic origin of the patients, which is probably related to the distinct colonization of different parts of Brazil. These results suggest that SCA may be occasionally caused by the SCA1 and SCA2 mutations in the Brazilian population, and that the MJD/SCA3 mutation is the most common cause of dominantly inherited SCA in Brazil.

Key-words: neurodegenerative disease, spinocerebellar ataxia type 1, spinocerebellar ataxia type 2, spinocerebellar ataxia type 3, Machado-Joseph disease, dentatorubropallidoluysian atrophy, trinucleotide repeat expansion.

RESUMO

Ataxia espinocerebelar tipo 1 (SCA1), ataxia espinocerebelar tipo 2 (SCA2) e doença de Machado-Joseph ou ataxia espinocerebelar tipo 3 (MJD/SCA3) são três formas de ataxia espinocerebelar (SCA) que apresentam herança genética autossômica dominante. Nessas três doenças foi encontrada uma expansão instável de trinucleotídeo CAG localizada na região codificadora dos genes responsáveis pelas três doenças. Portanto, para SCA 1, SCA2 e MJD/SCA3 o diagnóstico molecular é agora possível. A atrofia dentatorubropalidoluisiana (DRPLA) é também causada pela expansão de trinucleotídeos CAG e pode por vezes se apresentar como uma SCA. Nós investigamos a freqüência das mutações responsáveis por SCA1, SCA2, MJD/SCA3 e DRPLA em um grupo de 328 pacientes brasileiros com SCA pertencentes a 90 famílias não aparentadas. Esses pacientes apresentavam padrões diferentes de herança genética e eram provenientes de várias regiões do Brasil. Nós identificamos mutações em 35 famílias, 32 das quais com herança claramente autossômica dominante. A freqüência da mutação SGA1 foi de 3% no grupo total de pacientes, e 6% nos pacientes com herança autossômica dominante. Nós encontramos a mutação SCA2 em 6% de todas as famílias e em 9% das famílias com herança autossômica dominante. A mutação MJD/SCA3 foi encontrada em 30% de todos os pacientes, e em 44% quando consideramos somente os pacientes com herança autossômica dominante. Nenhuma mutação DRPLA foi encontrada. Nós observamos também variabilidade na freqüência das diferentes mutações em pacientes provenientes de diferentes regiões geográficas, o que provavelmente se correlaciona com os padrões distintos de colonização do Brasil. Nossos resultados sugerem que os casos de SCA no Brasil podem ser causados ocasionalmente pela mutação SCA1 e SCA2, mas que a causa mais freqüente de SCA de herança autossômica dominante no Brasil é a mutação MJD/SCA3.

Palavras-chave: doença neurodegenerativa, ataxia espinocerebelar tipo 1, ataxia espinocerebelar tipo 2, ataxia espinocerebelar tipo 3, doença de Machado-Joseph, atrofia dentatorubropalidoluisiana, expansão de trinucleotídeo CAG.

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Aceite: 10-junho-1997.

Dra. Iscia Lopes-Cendes - Departamento de Genética Médica, Faculdade de Ciências Médicas, UNICAMP -Caixa Postal 6111 - 13081-970 Campinas SP - Brasil. FAX: [phone]. E-mail: [e-mail]

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Publication Dates

• Publication in this collection
  18 Oct 2010
• Date of issue
  Sept 1997