title: Intrafamilial variability in fragile X-associated tremor/ataxia syndrome.
abstract: Fragile X-associated tremor/ataxia syndrome (FXTAS) is a progressive adult-onset tremor/ataxia syndrome caused by premutations in the FMR1 gene. In cranial MRI, the most characteristic findings are bilateral T2 hyperintense lesions within the middle cerebellar peduncles. Here we present a sibpair of two affected brothers presenting with very different symptoms (typical FXTAS versus essential tremor-like), disease progression, and MRI findings, illustrating broad intrafamilial variability of FXTAS. Also, their family history suggests further evidence of possible manifestation of FXTAS in women.
authors.affiliation: Department of Neurology, Klinikum Grosshadern, Ludwig Maximilians University Munich, Munich, Germany.
authors.forename: Nils
authors.initials: N
authors.lastname: Peters
authors.forename: Christoph
authors.initials: C
authors.lastname: Kamm
authors.forename: Friedrich
authors.initials: F
authors.lastname: Asmus
authors.forename: Elke
authors.initials: E
authors.lastname: Holinski-Feder
authors.forename: Eduard
authors.initials: E
authors.lastname: Kraft
authors.forename: Martin
authors.initials: M
authors.lastname: Dichgans
authors.forename: Roland
authors.initials: R
authors.lastname: Brüning
authors.forename: Thomas
authors.initials: T
authors.lastname: Gasser
authors.forename: Kai
authors.initials: K
authors.lastname: Bötzel
mesh_terms: D001284:Atrophy; D002531:Cerebellum / Q000473:pathology; D004252:DNA Mutational Analysis; D046690:Deep Brain Stimulation; D005260:Female; D005500:Follow-Up Studies; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics*; D005600:Fragile X Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D020235:Gait Apraxia / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D014644:Genetic Variation / Q000235:genetics*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009460:Neurologic Examination; D010375:Pedigree; D012737:Sex Factors; D013132:Spinocerebellar Degenerations / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D014202:Tremor / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D018911:Trinucleotide Repeats / Q000235:genetics
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1; C497683:FMR1 protein, human