Intrafamilial variability in fragile X-associated tremor/ataxia syndrome.
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.
Peters
Nils
N
Department of Neurology, Klinikum Grosshadern, Ludwig Maximilians University Munich, Munich, Germany.
Kamm
Christoph
C
Asmus
Friedrich
F
Holinski-Feder
Elke
E
Kraft
Eduard
E
Dichgans
Martin
M
Brüning
Roland
R
Gasser
Thomas
T
Bötzel
Kai
K
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
D051860:Fragile X Messenger Ribonucleoprotein 1; C497683:FMR1 protein, human