Characterisation of the unstable expanded CAG repeat in the MJD1 gene in four Brazilian families of Portuguese descent with Machado-Joseph disease

The occurrence of spinocerebellar ataxias caused by dynamic mutations in Polish patients

“…The proportion of SCA3/MJD in German [33], Chinese [44] and American [45] populations is estimated to reach 25-50% of all ADCA, while in Russian and South African populations this proportion is much lower. SCA3/MJC is the most common ataxia in the Azores (1 per 3600 inhabitants) [46]. The one and only case of SCA3 diagnosed in a patient of German descent confirms the practical lack of SCA3 in the Polish population.…”

Linkage Disequilibrium between the Spinocerebellar Ataxia 3/Machado-Joseph Disease Mutation and Two Intragenic Polymorphisms, One of Which, X359Y, Affects the Stop Codon

“…We screened one patient from each of 61 SCA3/ MJD families (Stevanin et al 1995b; : 39 from France, 10 from Portugal, 2 from Morocco, and 1 each from Brazil, Belgium, Algeria, Yemen, Cambodia, French Guyana, French West Indies, Ivory Coast, and Spain, as well as 1 with Spanish and Portuguese origins. The families from French Guyana and Ivory Coast were of Black African ancestry, as was one of the Moroccan kindreds.…”

Clinical and molecular advances in autosomal dominant cerebellar ataxias: from genotype to phenotype and physiopathology

“…There is a tendency for the Figure 1 Age at onset/CAG repeat number correlation curves in spinocerebellar ataxias. 52,53,71,75,174,175 Advances in autosomal dominant cerebellar ataxias y G Stevanin et al 8 mean age at onset to be earlier in SCA7 and later in SCA6, compared with the other forms of ADCA. The only sign that is specific for a single locus is decreased visual acuity leading to blindness due to progressive macular dystrophy in most SCA7 patients.…”