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Tremor and ataxia in fragile X premutation carriers: Blinded videotape study
Author(s) -
BerryKravis Elizabeth,
Lewin Foster,
Wuu Joanne,
Leehey Maureen,
Hagerman Randi,
Hagerman Paul,
Goetz Christopher G.
Publication year - 2003
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.10522
Subject(s) - ataxia , fragile x syndrome , fmr1 , population , psychology , medicine , intention tremor , audiology , physical therapy , physical medicine and rehabilitation , psychiatry , fragile x , biology , genetics , environmental health , gene
Fragile X premutation carriers do not have typical fragile X syndrome (FXS) although late‐onset progressive action tremor and gait disorder with CNS atrophy was recently reported in male carriers. We compared tremor, gait disorder and parkinsonian signs in FXS premutation subjects (age 50 or more) and a similar control population, using a standardized videotaping protocol. Videotapes were rated using standard scales for tremor (CRST), ataxia (ICARS), and parkinsonian signs (UPDRS) by an investigator blinded to premutation status. Compared to all other groups pooled (n = 30), the male premutation carrier group (n = 7) had significantly higher scores on the CRST ( p = 0.0008), ICARS ( p = 0.001), and UPDRS ( p = 0.0094). On the CRST, rest, postural and kinetic tremor scores were all higher in the male carriers. The elevated total UPDRS and ICARS scores mainly resulted from markedly higher scores for tremor and limb ataxia, respectively. The female carrier (n = 14) and control groups (n = 8) did not differ on any measure. The FMR1 premutation is associated with increased levels of CGG repeat‐containing FMR1 mRNA, which may predispose to these symptoms by interfering with nuclear mechanisms. Given the relatively high population frequency of the FMR1 premutation, this mutation may be a significant cause of late‐onset “idiopathic” progressive tremor. Ann Neurol 2003