The Fragile-X premutation: A maturing perspective : Review article
P.J. Hagerman, R.J. Hagerman
Bok Engelsk 2004
| Utgitt | 2004
|
|---|---|
| Omfang | 11 s.
|
| Opplysninger | Carriers of premutation alleles (55-200 CGG repeats) of the fragile-X mental retardation 1 (FMR1) gene are ofte 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 deficts on the fragile-X spectrum; premature ovarian failure; and newly described, neurodegenerative disorder of older adult carriers, fragile-X-associated tremor/ataxia syndrome (FXTAS). Awareness of theese 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 clincs
|
| Emner |
