期刊论文详细信息
Tremor and Other Hyperkinetic Movements
In the Gray Zone in the Fragile X Gene: What are the Key Unanswered Clinical and Biological Questions?
article
Deborah A. Hall1 
[1] Department of Neurological Sciences, Rush University
关键词: Fragile X mental retardation 1 Gene;    Fragile X-associated tremor;    ataxia syndrome;    Movement disorders;   
DOI  :  10.5334/tohm.233
学科分类:社会科学、人文和艺术(综合)
来源: Ubiquity Press
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【 摘 要 】

Smaller expansions (41–54 CGG repeats) in the fragile X mental retardation 1 ( FMR1 ) gene are termed ‘‘gray zone’’ alleles. Only recently has interest in these expansions increased due to reporting of phenotypes unique to gray zone carriers or similar to those seen in individuals with larger expansions. As minimal research has focused on gray zone expansions, this paper asks several questions related to this topic. These include the following: What is the definition of the gray zone? Is there a risk of developing neurological signs in these carriers? Are there secondary gene effects that impact gray zone alleles or a biologic advantage to carrying these repeats? How do we counsel patients with gray zone expansions? The answers to these questions will help to determine the significance of these expansions and provide needed information to the research community and clinicians.

【 授权许可】

CC BY   

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