Journal
AMERICAN JOURNAL OF HUMAN GENETICS
Volume 74, Issue 5, Pages 805-816Publisher
CELL PRESS
DOI: 10.1086/386296
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Funding
- NICHD NIH HHS [HD40661, R01 HD040661, HD36071, R01 HD036071] Funding Source: Medline
- NINDS NIH HHS [NS43532, R01 NS043532] Funding Source: Medline
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Carriers of premutation alleles (55-200 CGG repeats) of the fragile-X mental retardation 1 (FMR1) gene are often regarded as being clinically uninvolved. However, it is now apparent that such individuals can present with one ( or more) of three distinct clinical disorders: mild cognitive and/or behavioral deficits on the fragile-X spectrum; premature ovarian failure; and a newly described, neurodegenerative disorder of older adult carriers, fragile-X-associated tremor/ataxia syndrome (FXTAS). Awareness of these clinical presentations is important for proper diagnosis and therapeutic intervention, not only among families with known cases of fragile-X syndrome but also more broadly for adults with tremor, gait ataxia, and parkinsonism who are seen in movement-disorders clinics.
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