頁籤選單縮合
題 名 | Huntington's Disease Like-2: Review and Update |
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作 者 | Margolis,Russell L.; Rudnicki,Dobrila D.; Holmes,Susan E.; | 書刊名 | Acta Neurologica Taiwanica |
卷 期 | 14:1 2005.03[民94.03] |
頁 次 | 頁1-8 |
分類號 | 415.933 |
關鍵詞 | Huntington's disease like-2; Huntington disease; Neurodegeneration; Neurogenetic disease; |
語 文 | 英文(English) |
英文摘要 | Huntington's Disease-like 2 (HDL2), like Huntington's disease (HD), is an adult onset, progressive, neurodegenerative autosomal dominant disorder clinically characterized by abnormal movements, dementia, and psychiatric syndromes. Like HD, the neuropathology of HDL2 features prominent cortical and striatal atrophy and intranuclear inclusions. HDL2 is generally rare, accounting for only a few percent of RD-like cases in which the RD mutation has already been excluded. However, the rate is considerably higher among individuals of African ancestry, and is almost as common as HD in Black South Africans. The disorder is caused by a CTG/CAG expansion mutation on chromosome 16q24.3, with normal and expanded repeat ranges similar to HD, and a correlation between repeat length and onset age very similar to HD. Surprisingly, the available evidence suggests that HDL2 is not a polyglutamine disease. Rather, the repeat expansion is located within Junctophilin-3 in the CTG orientation. The phenotypic similarities between RD and HDL2 suggest that understanding the pathobiology of HDL2 may shed new light on the pathogenesis of RD and other disorders of striatal neurodegeneration. |
本系統中英文摘要資訊取自各篇刊載內容。