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Primary Progressive Aphasia Associated With GRN Mutations: New Insights Into the Non-amyloid Logopenic Variant
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In: ISSN: 0028-3878 ; EISSN: 1526-632X ; Neurology ; https://hal.archives-ouvertes.fr/hal-03281660 ; Neurology, American Academy of Neurology, 2021, ⟨10.1212/wnl.0000000000012174⟩ (2021)
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Data from: Primary progressive aphasias and GRN mutations ...
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Abstract:
Objective: To determine relative frequencies and linguistic profiles of primary progressive aphasia (PPA) variants associated with progranulin (GRN) mutations, and study their neuroanatomical correlates. Methods: PPA patients carrying GRN mutations (PPA-GRN) were selected amongst a national prospective research cohort of 1,696 frontotemporal dementia (FTD) patients, including 235 patients with PPA. All PPA patients with amyloid-positive CSF biomarkers were excluded. In this cross-sectional study, speech/language and cognitive profiles were characterized with standardized evaluations, and grey matter (GM) atrophy patterns using voxel-based morphometry. Comparisons were performed with controls, and sporadic PPA patients. Results: Among the overall population of 235 patients, 45 (19%) carried GRN mutations. We studied 32 of these and showed that logopenic PPA (lvPPA) was the most frequent linguistic variant (13, 41%), followed by non-fluent/agrammatic (nfvPPA: 9, 28%) and mixed forms (8, 25%). Semantic variant ...
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Keyword:
C9ORF72; FOS Medical and health sciences; frontotemporal dementia; frontotemporal lobar degeneration; genetics; logopenic variant PPA; primary progressive aphasia; progranulin
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URL: http://datadryad.org/stash/dataset/doi:10.5061/dryad.x3ffbg7hr
https://dx.doi.org/10.5061/dryad.x3ffbg7hr
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