Progression of tremor and ataxia in male carriers of the FMR1 premutation

✍ Scribed by Maureen A. Leehey; Elizabeth Berry-Kravis; Sung-Joon Min; Deborah A. Hall; Cathlin D. Rice; Lin Zhang; Jim Grigsby; Claudia M. Greco; Ann Reynolds; Rebecca Lara; Jennifer Cogswell; Sebastien Jacquemont; David R. Hessl; Flora Tassone; Randi Hagerman; Paul J. Hagerman

• Book ID: 102504866
• Publisher: John Wiley and Sons
• Year: 2007
• Tongue: English
• Weight: 80 KB
• Volume: 22
• Category: Article
• ISSN: 0885-3185
• DOI: 10.1002/mds.21252

✦ Synopsis

Abstract

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