title: Observation of an excess of fragile-X premutations in a population of males referred with spinocerebellar ataxia.
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.
authors.forename: James
authors.initials: J
authors.lastname: Macpherson
authors.forename: Andrew
authors.initials: A
authors.lastname: Waghorn
authors.forename: Simon
authors.initials: S
authors.lastname: Hammans
authors.forename: Patricia
authors.initials: P
authors.lastname: Jacobs
mesh_terms: D000328:Adult; D000368:Aged; D002648:Child; D005600:Fragile X Syndrome / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D020754:Spinocerebellar Ataxias / Q000235:genetics* / Q000503:physiopathology; D019680:Trinucleotide Repeat Expansion