@article{c22ebab025eb49679cff1910c9dcb790,
title = "Screening for C9orf72 repeat expansions in parkinsonian syndromes",
abstract = "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.",
keywords = "C9orf72, Corticobasal syndrome (CBS), Dementia with Lewy bodies (DLB), Frontotemporal dementia (FTD), GGGGCC hexanucleotide repeat expansion, Parkinson's disease with dementia (PDD), Progressive supranuclear palsy (PSP)",
author = "Yeh, {Tu Hsueh} and Lai, {Szu Chia} and Weng, {Yi Hsin} and Kuo, {Hung Chou} and Wu-Chou, {Yah Huei} and Huang, {Chia Ling} and Chen, {Rou Shayn} and Chang, {Hsiu Chen} and Bryan Traynor and Lu, {Chin Song}",
note = "Funding Information: We thank all the participants for their contributions. This work was supported by the National Science Council Taiwan (grant number: NSC 100-2321-B-182A-004 - to T-H Yeh), the Chang Gung Medical Foundation Taiwan (grant number: BMRPG390041 to C-S Lu), and the Chang Gung University (grant number: EMRPD1B0311 to C-S Lu). This work was also supported in part by the Intramural Research Program of the NIH, National Institute on Aging ( Z01-AG000949-02 ). We are grateful to the DNA Sequencing Core Laboratory and Genomic Medicine Research Core Laboratory, Chang Gung Memorial Hospital, Linkou, for technical assistance. ",
year = "2013",
month = apr,
doi = "10.1016/j.neurobiolaging.2012.09.002",
language = "English",
volume = "34",
pages = "1311.e3--1311.e4",
journal = "Neurobiology of Aging",
issn = "0197-4580",
publisher = "Elsevier Inc.",
number = "4",
}