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fragile X tremor/ataxia syndrome (FXTAS)
A mild form of fragile X syndrome
Genetics:
- ssociated with folate-sensitive fragile site on the long arm of the X chromosome
- associated with defects in FMR1
- the defect in most fragile X syndrome patients results from an amplification of a CGG repeat region which is directly in front of the coding region
- 55-200 CGG repeats (fewer than in fragile X syndrome)
Clinical manifestations:
- patients typically do not showthe full fragile X syndrome phenotype
- have some physical features of fragile X syndrome or mild cognitive & emotional problems
- ataxia
- tremor
- dementia [2]
General
fragile X syndrome
Database Correlations
OMIM 300623
References
- OMIM :accession 300623
- Medical Knowledge Self Assessment Program (MKSAP) 15,
American College of Physicians, Philadelphia 2009