2 documents found, page 1 of 1
Frequency of the different mutations causing spinocerebellar ataxia (SCA1, SCA2...
Lopes-Cendesi,Iscia; Teive,Hélio G.A.; Calcagnotto,Maria E; da Costa,Jaderson C.; Cardoso,Francisco; Viana,Erika; Maciel,Jaime A.; Radvany,JoãoSpinocerebellar 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 a...
Clinical and molecular characteristics of a Brazilian family with spinocerebell...
Lopes-Cendes,Iscia; Steiner,Carlos E.; Silveira,Isabel; Pinto-Junior,Walter; Maciel,Jayme A.; Rouleau,Guy A.The spinocerebellar ataxias (SCAs) are a clinically and genetically heterogeneous group of late onset neurodegenerative disorders. To date, seven different genes causing autosomal dominant SCA have been mapped: SCA1, SCA2, Machado-Joseph disease (MJD)/SCA3, SCA4, SCA5, SCA7 and dentatorubropallidoluysian atrophy (DRPLA). Expansions of an unstable trinucleotide CAG repeat cause three of these disorders: SCA1, MJ...