title: [Familial occurrence of FXTAS caused by premutation in the FMR1 gene].
abstract: The FMR1 gene premutation has recently been reported to be associated with a neurodegenerative syndrome, characterized by intention tremor, gait ataxia and cognition deficits in persons older than 50 years. We present a 74-year-old man with very severe intention tremor, slight postural tremor and gait ataxia. The molecular analysis revealed that he was a carrier of 91 CGG repeats in the FMR1 gene. His sister (68 years old), with head tremor, was found to be a carrier of 81 CGG repeats, while his younger brother, also with slight head and postural tremor, was a carrier of 98 CGG repeats. Molecular analysis of the proband's asymptomatic daughter revealed an expansion over 120 CGG. Her daughter, with mild intellectual disability, was a carrier of a full mutation. Thus, in the presented family with heterogeneous clinical presentation we found 4 premutations and one full mutation in the FMR1 gene.
authors.affiliation: Dariusz Koziorowski, Klinika Neurologii WNoZ, Warszawski Uniwersytet Medyczny, Warszawa. dkoziorowski@esculap.pl
authors.forename: Dariusz
authors.initials: D
authors.lastname: Koziorowski
authors.forename: Marta
authors.initials: M
authors.lastname: Rajkiewicz
authors.forename: Anna
authors.initials: A
authors.lastname: Sułek-Piątkowska
authors.forename: Jacek
authors.initials: J
authors.lastname: Zaremba
authors.forename: Małgorzata
authors.initials: M
authors.lastname: Kaca-Oryńska
authors.forename: Tomasz
authors.initials: T
authors.lastname: Mandat
authors.forename: Andrzej
authors.initials: A
authors.lastname: Friedman
mesh_terms: D000368:Aged; D001259:Ataxia / Q000235:genetics; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics*; D005600:Fragile X Syndrome / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D014202:Tremor / Q000235:genetics
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1