期刊
CLINICAL GENETICS
卷 84, 期 1, 页码 74-77出版社
WILEY-BLACKWELL
DOI: 10.1111/cge.12026
关键词
ataxia; FMR1-mRNA; FXTAS; grey zone; premutation; tremor
资金
- NIH [HD036071, HD02274]
- Neurotherapeutic Research Institute (NTRI) [DE019583, DA02484]
- National Institute on Aging [AG032119, AG032115]
- National Center for Research Resources [UL1 RR024146]
- Health and Human Services Administration of Developmental Disabilities [90DD05969]
The grey zone (GZ; 45-54 CGG repeats in the FMR1 gene) is considered a normal allele; however, several studies have found a high frequency of GZ in movement disordered populations. Here, we describe neurological features of fragile X-associated tremor/ataxia syndrome (FXTAS) in two carriers of GZ alleles, although FXTAS has been defined as occurring only in premutation carriers (55-200 CGG repeats). Both patients had family members who had premutation and were diagnosed with FXTAS. The presence of relatively high GZ alleles with elevated fragile X mental retardation 1 mRNA (FMR1-mRNA) combined with a family history of FXTAS that may represent a facilitating genetic background for FXTAS are the factors that led to the presence of FXTAS in these individuals with a GZ allele. Further research into clinical involvement of GZ alleles is recommended and the definition of FXTAS may require revision.
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