title: Frequency of FMR1 premutation in individuals with ataxia and/or tremor and/or parkinsonism.
abstract: A late onset neurological syndrome in carriers of premutation in FMR1 gene was recently described. The condition was named fragile-X-associated tremor/ataxia syndrome (FXTAS) and includes intentional tremor, cerebellar ataxia, parkinsonism, and cognitive deficit. We ascertained the contribution of FMR1 premutation to the phenotypes ataxia, tremor and/or parkinsonism. Sixty-six men over 45 years old presenting these symptoms, isolated or combined, were tested. Also, 74 normal men, randomly chosen in the population, formed the control group. In the patient group, no premutation carrier was found, which is in agreement with other observed frequencies reported elsewhere (0-5% variation). No significant differences were found when comparing gray zone allele frequencies among target and control groups. The FXTAS contribution in patients with phenotypic manifestations of FXTAS was 15/748 (2%). The presence of gray zone alleles is not correlated with FXTAS occurrence.
authors.affiliation: Departamento de Biologia Geral, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brasil.
authors.forename: A H O
authors.initials: AH
authors.lastname: Reis
authors.forename: A C S
authors.initials: AC
authors.lastname: Ferreira
authors.forename: K B
authors.initials: KB
authors.lastname: Gomes
authors.forename: M J B
authors.initials: MJ
authors.lastname: Aguiar
authors.forename: C G
authors.initials: CG
authors.lastname: Fonseca
authors.forename: F E
authors.initials: FE
authors.lastname: Cardoso
authors.forename: V C
authors.initials: VC
authors.lastname: Pardini
authors.forename: M R S
authors.initials: MR
authors.lastname: Carvalho
mesh_terms: D000483:Alleles; D001259:Ataxia / Q000175:diagnosis / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D016022:Case-Control Studies; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics*; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D010300:Parkinson Disease / Q000175:diagnosis / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D014202:Tremor / Q000175:diagnosis / Q000235:genetics / Q000473:pathology / Q000503:physiopathology
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1; C497683:FMR1 protein, human