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    Title: Dentatorubropallidoluysian atrophy in Chinese
    Authors: Lee, I-hui;Soong, Bing-wen;Lu, Yi-chun;張玉坤;Chang, Yue-cune
    Contributors: 淡江大學數學學系
    Date: 2001-11
    Issue Date: 2010-01-28 07:52:51 (UTC+8)
    Publisher: American Medical Association
    Abstract: Background Dentatorubropallidoluysian atrophy (DRPLA) is a rare, autosomal dominant neurodegenerative disease characterized by a range of clinical manifestations, including cerebellar ataxia, epilepsy, myoclonus, choreoathetosis, and dementia. Outside the Japanese population, the prevalence is extremely low worldwide. The reason for different ethnic prevalences of DRPLA is unclear. A previous assumption was that large normal alleles contribute to generation of expanded alleles and the relative frequencies of DRPLA.

    Objectives To describe the clinical, radiological, and genetic features of the first reported Chinese family with DRPLA, to our knowledge, and to compare the size distribution of normal alleles at the DRPLA locus in healthy Chinese individuals with that of other ethnic groups.

    Patients and Methods Of 80 Chinese kindreds with autosomally dominant spinocerebellar ataxias, 1 pedigree with 2 affected patients was found by polymerase chain reaction to carry the characteristic DRPLA mutation. The allele frequencies of different CAG repeat lengths at the DRPLA locus in 225 healthy Chinese individuals were also analyzed and compared with Japanese, white, and African American distributions.

    Results The clinical presentations of the 2 Chinese patients affected with DRPLA are similar to those described in Japanese patients, except that the affected father exhibited myoclonus but not chorea. Although the normal DRPLA allele size is distributed similarly in Chinese and Japanese populations, DRPLA in Chinese individuals is rare. Thus far, to our knowledge, only 1 intermediate-sized allele containing more than 30 CAG repeats has been reported among healthy Chinese individuals, in contrast to 3 among Japanese populations.

    Conclusion The ethnic prevalence of DRPLA seems to be correlated with the prevalence of intermediate-sized alleles in individual populations.

    DENTATORUBROPALLIDOLUYSIAN atrophy (DRPLA) is a neurodegenerative disorder with characteristic neuropathological findings of combined degeneration of the dentatorubral and pallidoluysian systems of the central nervous system.1 The clinical symptoms are diverse, with varying combinations of myoclonus, epilepsy, ataxia, choreoathetosis, and dementia.1 The prevalence of DRPLA has been estimated to be 2 to 4 per 1 million Japanese, a rate similar to that of Huntington disease in Japan.2 Outside Japan, DRPLA remains rare, with previous reports3- 7 of only 8 white kindreds and 1 African American family with Haw River syndrome. The reason for different ethnic prevalences of DRPLA is unclear.

    A molecular defect in patients with DRPLA, identified in 1994, lies in the expansion of an unstable (CAG)n repeat in the DRPLA gene on chromosome 12p.8,9 A correlation between age at onset, severity of disease, and repeat size has been documented.10,11 Despite the demonstration of a common molecular defect in patients with DRPLA, clinical and neuropathological differences have been reported among these patients, even within a family.3,4,11,12 There are also different ranges of normal CAG repeat lengths in different ethnic groups.13 Herein, we describe the clinical, radiological, and genetic features in the first reported Chinese family with DRPLA, to our knowledge, and compare the distribution of CAG repeat lengths at the DRPLA locus in healthy Chinese individuals with that of other ethnic groups.
    Relation: Archives of Neurology 58(11), pp.1905-1908
    DOI: 10.1001/archneur.58.11.1905
    Appears in Collections:[數學學系暨研究所] 期刊論文

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