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Fragile X–associated tremor/ataxia syndrome in sisters related to X‐inactivation
Author(s) -
BerryKravis Elizabeth,
Potanos Kristina,
Weinberg Dahlia,
Zhou Lili,
Goetz Christopher G.
Publication year - 2005
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.20360
Subject(s) - ataxia , parkinsonism , fragile x , intention tremor , fragile x syndrome , fmr1 , allele , disease , medicine , pediatrics , psychology , genetics , audiology , psychiatry , biology , gene
Fragile X tremor/ataxia syndrome (FXTAS) is a recently described condition consisting of tremor, ataxia, parkinsonism, and executive dysfunction, presenting predominantly in male carriers of a fragile X mental retardation 1 premutation. In this report, we present premutation carrier sisters in whom severity of clinical signs correlated with a molecular pattern of X‐inactivation favoring higher expression of the premutation allele. In these women with a common genetic background, we suggest that symptom severity may be dictated by X‐inactivation, and thus a higher percentage of cells producing the premutation‐containing mRNA result in increased toxicity and disease. Ann Neurol 2005;57:144–147