Screening for C9orf72 repeat expansions in parkinsonian syndromes.
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.
Section of Movement Disorders, Department of Neurology, Chang Gung Memorial Hospital at Linkou Medical Center and Chang Gung University, Taoyuan, Taiwan.
Tu-Hsueh
TH
Yeh
Szu-Chia
SC
Lai
Yi-Hsin
YH
Weng
Hung-Chou
HC
Kuo
Yah-Huei
YH
Wu-Chou
Chia-Ling
CL
Huang
Rou-Shayn
RS
Chen
Hsiu-Chen
HC
Chang
Bryan
B
Traynor
Chin-Song
CS
Lu
D000073885:C9orf72 Protein; D042622:DNA Repeat Expansion / Q000235:genetics*; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000453:epidemiology* / Q000235:genetics*; D006801:Humans; D008403:Mass Screening / Q000379:methods / Q000706:statistics & numerical data; D020734:Parkinsonian Disorders / Q000453:epidemiology* / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D015995:Prevalence; D011506:Proteins / Q000235:genetics*; D012307:Risk Factors; D013624:Taiwan / Q000453:epidemiology
D000073885:C9orf72 Protein; C568651:C9orf72 protein, human; D005819:Genetic Markers; D011506:Proteins