Ontology highlight
ABSTRACT:
SUBMITTER: Hagerman PJ
PROVIDER: S-EPMC1181976 | biostudies-literature | 2004 May
REPOSITORIES: biostudies-literature
Hagerman Paul J PJ Hagerman Randi J RJ
American journal of human genetics 20040329 5
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). Awa ...[more]