title: Fragile X-associated tremor/ataxia syndrome: intrafamilial variability and the size of the FMR1 premutation CGG repeat.
abstract: Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurological progressive disorder associated with the FMR1 gene premutation. We report on variable presentation of findings associated with FXTAS in 3 brothers aged 68, 74, and 73 years, carrying premutation alleles of (CGG)(123,) (CGG)(109), and (CGG)(91) triplets, respectively. Based on previously proposed diagnostic criteria for the syndrome, clinical and radiological data allowed establishing a "definite" diagnosis of FXTAS in the two carriers of the longest (CGG)(n). The carrier of the (CGG)(91) allele, although presenting a major radiological sign of the syndrome (symmetrical white-matter lesions in the middle cerebellar peduncles), did not have any significant neurological manifestation at 73 years of age.
authors.affiliation: Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brazil.
authors.forename: Leonardo P
authors.initials: LP
authors.lastname: Capelli
authors.forename: Márcia R R
authors.initials: MR
authors.lastname: Gonçalves
authors.forename: Fernando
authors.initials: F
authors.lastname: Kok
authors.forename: Cláudia C
authors.initials: CC
authors.lastname: Leite
authors.forename: Ricardo
authors.initials: R
authors.lastname: Nitrini
authors.forename: Egberto R
authors.initials: ER
authors.lastname: Barbosa
authors.forename: Angela M
authors.initials: AM
authors.lastname: Vianna-Morgante
mesh_terms: D000368:Aged; D002531:Cerebellum / Q000473:pathology*; D005190:Family; D005260:Female; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics*; D005600:Fragile X Syndrome / Q000235:genetics* / Q000473:pathology; D006801:Humans; D015847:Interleukin-4 / Q000097:blood; D015848:Interleukin-5 / Q000097:blood; D015850:Interleukin-6 / Q000097:blood; D016209:Interleukin-8 / Q000097:blood; D008297:Male; D010375:Pedigree; D035781:Siblings; D018911:Trinucleotide Repeats
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1; D015847:Interleukin-4; D015848:Interleukin-5; D015850:Interleukin-6; D016209:Interleukin-8; C497683:FMR1 protein, human