C9orf72 Hexanucleotide repeat analysis in cases with pathologically confirmed dementia with lewy bodies

Joshua T. Geiger, Karissa C. Arthur, Ted M Dawson, Liana Isa Shapiro Rosenthal, Alexander Pantelyat, Marilyn Albert, Argye Hillis-Trupe, Barbara Crain, Olga Pletnikova, Juan C Troncoso, Sonja W. Scholz

Research output: Contribution to journalArticle


Background: Dementia with Lewy bodies (DLB) is the second most common neurodegenerative dementia affecting the elderly. The GGGGCC hexanucleotide expansion mutation at the C9orf72 locus has been identified as a major cause of amyotrophic lateral sclerosis and frontotemporal dementia, raising the question of whether this mutation is a factor in DLB. Furthermore, a small number of clinically diagnosed DLB patients have previously been reported to carry the pathologic C9orf72 hexanucleotide repeat expansion. Objective: To explore whether the C9orf72 mutation is present in pathologically confirmed DLB patients. Methods: We screened a cohort of 111 definite DLB cases with extensive Lewy body pathology for the C9orf72 hexanucleotide repeat expansion using the repeat-primed polymerase chain reaction assay. Results: No pathogenic expansions of the C9orf72 hexanucleotide repeat were found, suggesting that there is no causal relationship between C9orf72 and DLB. Conclusion: Our data illustrate that C9orf72 screening of clinically diagnosed DLB patients should only be considered in cases with a family history of motor neuron disease or frontotemporal dementia to distinguish between mimic diseases.

Original languageEnglish (US)
Pages (from-to)370-372
Number of pages3
JournalNeurodegenerative Diseases
Issue number5-6
StatePublished - Sep 1 2016



  • Amyotrophic lateral sclerosis
  • C9orf72
  • Dementia with Lewy bodies
  • Frontotemporal dementia
  • Hexanucleotide repeat expansion

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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