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

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

Research output: Contribution to journalArticlepeer-review

6 Scopus citations


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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