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  • Title: Intrafamilial variability in fragile X-associated tremor/ataxia syndrome.
    Author: Peters N, Kamm C, Asmus F, Holinski-Feder E, Kraft E, Dichgans M, Brüning R, Gasser T, Bötzel K.
    Journal: Mov Disord; 2006 Jan; 21(1):98-102. PubMed ID: 16124012.
    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.
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