Screening for C9orf72 repeat expansions in parkinsonian syndromes

NEUROBIOLOGY OF AGING

卷:34

Article

Yeh, Tu-Hsueh^1,2,3  Lai, Szu-Chia^1,2,3  Weng, Yi-Hsin^1,2,3  Kuo, Hung-Chou^2,4  Wu-Chou, Yah-Huei^2,3,5  Huang, Chia-Ling⁶  Chen, Rou-Shayn^1,2,3  Chang, Hsiu-Chen^1,2,3  Traynor, Bryan⁷  Lu, Chin-Song^1,2,3 

[1] Linkou Med Ctr, Chang Gung Mem Hosp, Dept Neurol, Sect Movement Disorders, Tao Yuan, Taiwan

[2] Chang Gung Univ, Tao Yuan, Taiwan

[3] Linkou Med Ctr, Chang Gung Mem Hosp, Neurosci Res Ctr, Tao Yuan, Taiwan

[4] Linkou Med Ctr, Chang Gung Mem Hosp, Dept Neurol, Sect Neuromuscular Disorders, Tao Yuan, Taiwan

[5] Linkou Med Ctr, Chang Gung Mem Hosp, Human Mol Genet Lab, Tao Yuan, Taiwan

[6] St Pauls Hosp, Dept Neurol, Tao Yuan, Taiwan

[7] NIA, Neuromuscular Dis Res Unit, Neurogenet Lab, NIH, Bethesda, MD 20892 USA

关键词: C9orf72;    GGGGCC hexanucleotide repeat expansion;    Frontotemporal dementia (FTD);    Parkinson's disease with dementia (PDD);    Progressive supranuclear palsy (PSP);    Corticobasal syndrome (CBS);    Dementia with Lewy bodies (DLB);   

DOI  :  10.1016/j.neurobiolaging.2012.09.002

来源: Elsevier

【 摘 要 】

Parkinsonism might precede, coincide, or follow the behavioral or language-predominant cognitive impairments characteristic of frontotemporal dementia (FTD). In this study, we analyze the hexanucleotide repeat expansions within C9orf72 gene in various parkinsonian syndromes because it is a recently identified important genetic cause of FTD. The expanded hexanucleotide repeat is only identified in our familial FTD patients but not in patients with predominant parkinsonism. The lack of association between abnormal C9orf72 repeat expansion and parkinsonian syndromes might imply pathogenic mechanisms other than tau or Lewy body pathology. (C) 2013 Elsevier Inc. All rights reserved.

【 授权许可】

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