Screening for C9orf72 repeat expansions in parkinsonian syndromes

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• 作者：Tu-Hsueh Yeh^a ; ^b ; Szu-Chia Lai^a ; ^b ; Yi-Hsin Weng^a ; ^b ; Hung-Chou Kuo^c ; Yah-Huei Wu-Chou^b ; ^d ; Chia-Ling Huang^e ; Rou-Shayn Chen^a ; ^b ; Hsiu-Chen Chang^a ; ^b ; Bryan Traynor^f ; Chin-Song Lu^a ; ^b ; ^{c81214@adm.cgmh.org.tw}
• 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)
• 刊名：Neurobiology of Aging
• 出版年：2013
• 出版时间：April, 2013
• 年：2013
• 卷：34
• 期：4
• 页码：1311.e3-1311.e4
• 全文大小：100 K

文摘

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.