title: Fragile X-premutation tremor/ataxia syndrome (FXTAS) in a young woman: clinical, genetics, MRI and 1H-MR spectroscopy correlates.
abstract: It is generally thought that fragile X-associated tremor/ataxia syndrome (FXTAS) represents a late-onset neurodegenerative disorder occuring in male carriers of a premutation expansion (55-200 CGG repeats) in the fragile X mental retardation 1 (FMR 1) gene. However, several female patients with FXTAS have also been reported recently. Here, we describe a 23-year old woman with positive family history of mental retardation and autism who presented clinically with action tremor, ataxia, emotional disturbances and cognitive dysfunction. Magnetic resonance imaging (MRI) of the brain showed diffuse cortical atrophy, while 1H-MR spectroscopy (MRS) revealed decreased levels of N-acetylaspartate (NAA) in the cerebellum, basal ganglia, and pons. Genetic testing confirmed heterozygous FMR 1 gene premutation of 100 CGG repeats in the abnormal allele and 29 CGG repeats in the normal allele. We concluded that FXTAS may be an under-recognized disorder, particularly in women.
authors.affiliation: University of Zagreb, School of Medicine, Zagreb University Hospital Centre, Department of Neurology and Croatian Institute for Brain Research, Neuron Diagnostic Centre, Zagreb, Croatia. helenasarac@hi.t-com.hr
authors.forename: Helena
authors.initials: H
authors.lastname: Sarac
authors.forename: Neven
authors.initials: N
authors.lastname: Henigsberg
authors.forename: Jasenka
authors.initials: J
authors.lastname: Markeljević
authors.forename: Goran
authors.initials: G
authors.lastname: Pavlisa
authors.forename: Patric R
authors.initials: PR
authors.lastname: Hof
authors.forename: Goran
authors.initials: G
authors.lastname: Simić
mesh_terms: D001921:Brain / Q000378:metabolism / Q000473:pathology; D001923:Brain Chemistry; D005260:Female; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics; D005600:Fragile X Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism / Q000473:pathology*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D055815:Young Adult
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1; C497683:FMR1 protein, human