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Intrafamilial variability in fragile X–associated tremor/ataxia syndrome

✍ Scribed by Nils Peters; Christoph Kamm; Friedrich Asmus; Elke Holinski-Feder; Eduard Kraft; Martin Dichgans; Roland Brüning; Thomas Gasser; Kai Bötzel

Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
167 KB
Volume
21
Category
Article
ISSN
0885-3185

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✦ Synopsis

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. © 2005 Movement Disorder Society

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