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Fragile X-associated tremor/ataxia syndrome: Intrafamilial variability and the size of the FMR1 premutation CGG repeat

✍ Scribed by Leonardo P. Capelli; Márcia R. R. Gonçalves; Fernando Kok; Cláudia C. Leite; Ricardo Nitrini; Egberto R. Barbosa; Angela M. Vianna-Morgante

Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
164 KB
Volume
22
Category
Article
ISSN
0885-3185

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✦ Synopsis

Abstract

Fragile X‐associated tremor/ataxia syndrome (FXTAS) is a neurological progressive disorder associated with the FMR1 gene premutation. We report on variable presentation of findings associated with FXTAS in 3 brothers aged 68, 74, and 73 years, carrying premutation alleles of (CGG)~123,~ (CGG)~109~, and (CGG)~91~ triplets, respectively. Based on previously proposed diagnostic criteria for the syndrome, clinical and radiological data allowed establishing a “definite” diagnosis of FXTAS in the two carriers of the longest (CGG)~n~. The carrier of the (CGG)~91~ allele, although presenting a major radiological sign of the syndrome (symmetrical white‐matter lesions in the middle cerebellar peduncles), did not have any significant neurological manifestation at 73 years of age. © 2007 Movement Disorder Society

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