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Article

Frontotemporal dementia associated with the C9ORF72 mutation: a unique clinical profile.

JAMA neurology - 1 Mar 2014

Devenney Emma, Hornberger Michael, Irish Muireann, Mioshi Eneida, Burrell James, Tan Rachel, Kiernan Matthew C, Hodges John R

Abstract excerpt

IMPORTANCE: While advances have been made in characterizing the C9ORF72 clinical phenotype, the hallmark features that discriminate between carriers and noncarriers remain unclear. OBJECTIVES: To determine the frequency of the C9ORF72 mutation in a frontotemporal dementia (FTD) cohort and to define the clinical, neuropsychological, behavioral, and imaging features of C9ORF72 mutation carriers in comparison with...

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Identifiers

PMID: 24445580
DOI: 10.1001/jamaneurol.2013.6002

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