Observation of an excess of fragile-X premutations in a population of males referred with spinocerebellar ataxia

Macpherson, J., Waghorn, A., Hammans, S. and Jacobs, P. (2003) Observation of an excess of fragile-X premutations in a population of males referred with spinocerebellar ataxia. Human Genetics, 112 (5-6), 619 - 620. (doi:10.1007/s00439-003-0939-z).

Record type: Article

Abstract

Premutations of the fragile-X (FRAXA) gene were thought to have no clinical effects until recent reports of an increased incidence of premature ovarian failure in females and a late-onset neurological disorder in males. These patients were identified from families including typical fragile-X males with a full mutation. By analysing a cohort of patients with neurodegenerative disorders referred for genetic analysis of spinocerebellar ataxia genes, we have found that 3 of 59 males carry the premutation. Our patients extend the phenotype associated with the FRAXA premutation and indicate that it may account for a proportion of undiagnosed neurodegenerative disorders.

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