Mapping of a new autosomal dominant spinocerebellar ataxia to chromosome 22

Article Abstract:

A new autosomal dominant spinocerebellar ataxia, SCA10, has been mapped to chromosome 22. In Mexican American pedigree that segregates a new sort of ataxia a genomewide search was carried out. In the family the disease is clinically characterized by limb and gait ataxia, nystagmus and dysarthria, and two family members have seizures. The autosomal dominant cerebellar ataxias (ADCAs) are both clinically and genetically heterogeneous. Five spinocerebellar ataxia (SCA) genes have been found. About a third of SCAs have not been assigned. It appears that trinucleotide-repeat expansion may be the mutagenic mechanism.

Usage, Chromosome mapping, Ataxia, Articulation disorders, Nystagmus

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Molecular and clinical study of 18 families with ADCA type II: evidence for genetic heterogeneity and de novo mutation

Article Abstract:

Seventeen of eighteen families with autosomal dominant cerebellar ataxia (ADCA) II have a mutation involving an expanded CAG repeat in the SCA7 gene. The mutation was not found in seven families with ADCA type I, 26 families with ADCA type III, or 56 individuals with idiopathic late-onset cerebellar ataxia. CAG repeats ranged from 7-19 in most normal controls and unaffected subjects. Pathological alleles had 37-220 repeats, while alleles with an intermediate range of 28-35 repeats could be prone to additional expansion.

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Close associations between prevalences of dominantly inherited spinocerebellar ataxias with CAG-repeat expansions and frequencies of large normal CAG alleles in Japanese and Caucasian populations

Article Abstract:

Research on Caucasian and Japanese subjects shows a correlation between large normal CAG allele frequencies and the CAG-repeat expansions coinciding with dominantly inherited spinocerebellar ataxias (SCAs). Dominant SCA types and dentatorubralpallidoluysian atrophy were found primarily in Caucasian and Japanese populations respectively, with prevalences matching comparatively large numbers of normal alleles.

Japan, Health aspects, Movement disorders

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