Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 146A, Issue 8, Pages 1009-1016Publisher
WILEY
DOI: 10.1002/ajmg.a.32060
Keywords
FXTAS; fragile X premutation; neuropathy; hypothyroidism
Categories
Funding
- NCATS NIH HHS [UL1 TR000448] Funding Source: Medline
- NCRR NIH HHS [UL1 RR024992] Funding Source: Medline
- NIA NIH HHS [RL1 AG032115-01, RL1 AG032119, RL1 AG032115] Funding Source: Medline
- NICHD NIH HHS [P30 HD002274, R01 HD036071-10, HD02274, HD036071, R01 HD036071] Funding Source: Medline
- NINDS NIH HHS [NS044299, R01 NS044299] Funding Source: Medline
- PHS HHS [U10/CCU925123] Funding Source: Medline
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Fragile X-associated tremor/ataxia syndrome (FXTAS) is generally considered to be uncommon in older female carriers of premutation alleles (55-200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene; however, neither prevalence, nor the nature of the clinical phenotype, has been well characterized in female carriers. In this study, we evaluated 146 female carriers (mean, 42.3 years; range, 20-75 years) with and without core features of FXTAS (tremor; gait ataxia), and 69 age-matched controls (mean, 45.8 years; range, 21-78 years). Compared with controls, carriers with definite or probable FXTAS had greater medical co-morbidity, with increased prevalence of thyroid disease (P = 0.0096), hypertension (P = 0.0020), seizures (P = 0.0077), peripheral neuropathy (P = 0.0040), and fibromyalgia (P = 0.0097), in addition to the typical symptoms of FXTAS-tremor (P < 0.0001) and ataxia (P < 0.0001). The non-FXTAS premutation group had more complaints of chronic muscle pain (P = 0.0097), persistent paraesthesias in extremities (P < 0.0001), and history of tremor (P < 0.0123) than controls. The spectrum of clinical involvement in female carriers with FXTAS is quite broad, encompassing a number of medical co-morbidities as well as the core movement disorder. The remarkable degree of thyroid dysfunction (17% in the non-FXTAS group and 50% in the FXTAS group) warrants consideration of thyroid function studies in all female premutation carriers, particularly those with core features of FXTAS. (C) 2008 Wiley-Liss, Inc.
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