The relationship between (CAG)n repeat number and age of onset in a family with dentatorubral-pallidoluysian atrophy (DRPLA): diagnostic implications of confirmatory and predictive testing.
AUTOR(ES)
Potter, N T
RESUMO
Dentatorubral-pallidoluysian atrophy (DRPLA) is a rare neurodegenerative disorder characterised by variability in both age of onset and clinical features. Despite the recent identification of the CAG expansion mutation in DRPLA, the number of molecularly confirmed cases remains small. Given its rarity and prominent phenotypic heterogeneity, some care needs to be exercised in the interpretation and dissemination of test results derived from direct gene testing for the DRPLA specific expansion mutation.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1051847Documentos Relacionados
- A sporadic case of dentatorubral pallidoluysian atrophy (DRPLA) with CAG repeat expansion but no clinical abnormalities in the father.
- Analysis of spinocerebellar ataxia types 1, 2, 3, and 6, dentatorubral-pallidoluysian atrophy, and Friedreich's ataxia genes in spinocerebellar ataxia patients in the UK.
- Medical genetics: advances in brief: Non-Mendelian transmission in dentatorubral-pallidoluysian atrophy and Machado-Joseph disease: the mutant allele is preferentially transmitted in male meiosis
- Avoiding errors in the diagnosis of (CAG)n expansion in the huntingtin gene.
- Benign adult familial myoclonus epilepsy (BAFME): an autosomal dominant form not linked to the dentatorubral pallidoluysian atrophy (DRPLA) gene.