Maternal transmission in sporadic Huntington's disease.
Authors:
- M MilaMMM Mila
- S Castellvi-BelS Castellvi-Bel
- M RosichMRM Rosich
- D JimenezDJD Jimenez
- C BadenasCBC Badenas
- X EstivillXEX Estivill
Open Access
- 1 May 1997
- journal article
- case report
- Published by BMJ in Journal of Neurology, Neurosurgery & Psychiatry
- Vol. 62 (5) , 535-537
Abstract
Huntington's disease is an autosomal dominant neurodegenerative disorder caused by the expansion of a (CAG)n repeat in the IT15 gene. Three per cent of cases are sporadic and in those in which family studies have been performed, the origin of the mutation was always paternal. The first sporadic case of Huntington's disease is presented in which a premutated maternal allele of 37 CAG repeats was transmitted expanded to the proband (43 CAG repeats). Molecular analysis of the IT15 gene is extremely important in sporadic cases of Huntington's disease, providing correct diagnosis of the disorder and facilitating genetic counselling to the family members.Keywords
This publication has 8 references indexed in Scilit:
- Mutation analysis in patients with possible but apparently sporadic Huntington's diseaseThe Lancet, 1994
- International Huntington Association and the World Federation of Neurology Research Group on Huntington's Chorea. Guidelines for the molecular genetics predictive test in Huntington's disease.Journal of Medical Genetics, 1994
- Dynamic mutation in Dutch Huntington's disease patients: increased paternal repeat instability extending to within the normal size range.Journal of Medical Genetics, 1993
- De novo expansion of a (CAG)n repeat in sporadic Huntington's diseaseNature Genetics, 1993
- Analysis of the huntingtin gene reveals a trinucleotide-length polymorphism in the region of the gene that contains two CCG-rich stretches and a correlation between decreased age of onset of Huntington's disease and CAG repeat numberHuman Molecular Genetics, 1993
- Molecular analysis of new mutations for Huntington's disease: intermediate alleles and sex of origin effectsNature Genetics, 1993
- Genetic variation of microsatellite markers D1S117, D6S89, D11S35, APOC2, and D21S168 in the Spanish populationInternational journal of legal medicine, 1993
- Trinucleotide repeat length instability and age of onset in Huntington's diseaseNature Genetics, 1993