Expanded C9ORF72 hexanucleotide repeat in depressive pseudodementia

Research output: Contribution to journalArticle

20 Citations (Scopus)

Abstract

IMPORTANCE Expanded hexanucleotide repeats in C9ORF72 are a common genetic cause of frontotemporal dementia and amyotrophic lateral sclerosis. Repeat expansions have also been detected infrequently in other disorders, including Alzheimer disease, dementia with Lewy bodies, and parkinsonian disorders. OBSERVATIONS A consecutive series of 31 cases from the brain bank for neurodegenerative disorders at Mayo Clinic was screened to assess the incidence of the expanded C9ORF72 repeat in cases of depressive pseudodementia. The presence of the hexanucleotide repeat was established using immunohistochemistry with a highly disease-specific antibody (C9RANT), and was further validated in carriers using repeat-primed polymerase chain reaction and Southern blotting. Two individuals harbored the C9ORF72 repeat expansion. Both patients were men with refractory depression. One patient experienced drug-induced parkinsonism and sudden-onset dementia, while the other patient had a more insidious disease course suspected to be Alzheimer disease. CONCLUSIONS AND RELEVANCE This report increases the range of clinicopathologic presentations of C9ORF72 expanded hexanucleotide repeat to include psychiatric disorders such as depressive pseudodementia.

Original languageEnglish (US)
Pages (from-to)775-781
Number of pages7
JournalJAMA Neurology
Volume71
Issue number6
DOIs
StatePublished - 2014

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Factitious Disorders
Alzheimer Disease
Parkinsonian Disorders
Treatment-Resistant Depressive Disorder
Lewy Bodies
Southern Blotting
Neurodegenerative Diseases
Psychiatry
Dementia
Immunohistochemistry
Polymerase Chain Reaction
Antibodies
Incidence
Brain
Pharmaceutical Preparations
Repeats

ASJC Scopus subject areas

  • Arts and Humanities (miscellaneous)
  • Clinical Neurology

Cite this

Expanded C9ORF72 hexanucleotide repeat in depressive pseudodementia. / Bieniek, Kevin F.; Van Blitterswijk, Marka; Baker, Matthew C.; Petrucelli, Leonard; Rademakers, Rosa V; Dickson, Dennis W.

In: JAMA Neurology, Vol. 71, No. 6, 2014, p. 775-781.

Research output: Contribution to journalArticle

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AU - Dickson, Dennis W

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