Screening for C9orf72 repeat expansions in parkinsonian syndromes

Tu Hsueh Yeh, Szu Chia Lai, Yi Hsin Weng, Hung Chou Kuo, Yah Huei Wu-Chou, Chia Ling Huang, Rou Shayn Chen, Hsiu Chen Chang, Bryan Traynor, Chin Song Lu

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21 Citations (Scopus)

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.

Original languageEnglish
JournalNeurobiology of Aging
Volume34
Issue number4
DOIs
Publication statusPublished - Apr 2013
Externally publishedYes

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)

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)
  • Ageing
  • Developmental Biology
  • Geriatrics and Gerontology

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  • Cite this

    Yeh, T. H., Lai, S. C., Weng, Y. H., Kuo, H. C., Wu-Chou, Y. H., Huang, C. L., Chen, R. S., Chang, H. C., Traynor, B., & Lu, C. S. (2013). Screening for C9orf72 repeat expansions in parkinsonian syndromes. Neurobiology of Aging, 34(4). https://doi.org/10.1016/j.neurobiolaging.2012.09.002