Meiotic CAG repeat instability in spinocerebellar ataxia type 6: maternally transmitted elongation in a presumed sporadic case
| Autor: | Jørgen E. Nielsen, Lis Hasholt, Suzanne Granhøj Lindquist, Lena E. Hjermind, Anne Nørremølle |
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| Rok vydání: | 2005 |
| Předmět: |
Proband
congenital hereditary and neonatal diseases and abnormalities DNA Mutational Analysis Biology Chromosome 19 medicine Spinocerebellar ataxia type 6 Humans Spinocerebellar Ataxias Allele Aged Genetics Cerebellar ataxia Anticipation Genetic medicine.disease Infectious Disease Transmission Vertical nervous system diseases Pedigree Neurology Anticipation (genetics) Spinocerebellar ataxia Female Neurology (clinical) Calcium Channels medicine.symptom Trinucleotide repeat expansion Trinucleotide Repeat Expansion |
| Zdroj: | Journal of the neurological sciences. 241(1-2) |
| ISSN: | 0022-510X |
| Popis: | Spinocerebellar ataxia type 6 (SCA6) is an autosomal dominantly inherited disorder characterized by cerebellar ataxia, dysarthria and nystagmus. The molecular background for the disorder is a CAG repeat expansion in the CACNA1A gene located on chromosome 19. The size of SCA6 expanded alleles is usually stable, and variation in repeat size over successive generations is rare. We report a Danish family with one case of SCA6 resembling a sporadic case of spinocerebellar ataxia. Analysis of the CACNA1A gene showed meiotic CAG repeat instability in the transmission from a 70-year-old woman with no subjective symptoms to her symptomatic son. The CAG repeat size expanded from 22 repeats in the mother to 23 repeats in the proband. This case demonstrates maternal repeat instability and clinical anticipation in a family with SCA6. |
| Databáze: | OpenAIRE |
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