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Dominant Frontotemporal Dementia Mutations in 140 Cases of Primary Progressive Aphasia and Speech Apraxia
Author(s) -
Eoin P. Flanagan,
Matthew Baker,
Ralph B. Perkerson,
Joseph R. Duffy,
Edythe A. Strand,
Jennifer L. Whitwell,
Mary M. Machulda,
Rosa Rademakers,
Keith A. Josephs
Publication year - 2015
Publication title -
dementia and geriatric cognitive disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.026
H-Index - 110
eISSN - 1421-9824
pISSN - 1420-8008
DOI - 10.1159/000375299
Subject(s) - frontotemporal dementia , c9orf72 , primary progressive aphasia , apraxia , aphasia , frontotemporal lobar degeneration , semantic dementia , psychology , dementia , genetics , medicine , audiology , disease , pathology , biology , neuroscience
Mutations in three genes [chromosome 9 open-reading-frame 72 (C9ORF72); microtubule-associated protein tau (MAPT) and progranulin (GRN)] account for the vast majority of familial, and a proportion of sporadic, frontotemporal dementia (FTD) cases. Progressive apraxia of speech (PAOS) is a type of FTD characterized by speech production deficits without a known cause.

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