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Progression of tremor and ataxia in male carriers of the FMR1 premutation
Author(s) -
Leehey Maureen A.,
BerryKravis Elizabeth,
Min SungJoon,
Hall Deborah A.,
Rice Cathlin D.,
Zhang Lin,
Grigsby Jim,
Greco Claudia M.,
Reynolds Ann,
Lara Rebecca,
Cogswell Jennifer,
Jacquemont Sebastien,
Hessl David R.,
Tassone Flora,
Hagerman Randi,
Hagerman Paul J.
Publication year - 2006
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.21252
Subject(s) - ataxia , medicine , audiology , neuroscience , physical medicine and rehabilitation , psychology
Premutation alleles of the fragile X mental retardation 1 ( FMR1 ) gene give rise to a late‐onset movement disorder, fragile X‐associated tremor/ataxia syndrome (FXTAS), characterized by progressive intention tremor and gait ataxia, with associated dementia and global brain atrophy. The natural history of FXTAS is largely unknown. To address this issue, a family‐based, retrospective, longitudinal study was conducted with a cohort of 55 male premutation carriers. Analysis of the progression of the major motor signs of FXTAS, tremor and ataxia, shows that tremor usually occurs first, with median onset at ∼60 years of age. From the onset of the initial motor sign, median delay of onset of ataxia was 2 years; onset of falls, 6 years; dependence on a walking aid, 15 years; and death, 21 years. Preliminary data on life expectancy are variable, with a range from 5 to 25 years. © 2006 Movement Disorder Society