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Frontotemporal dementia is the leading cause of "true" A-/T+ profiles defined with A?42/40 ratio.

ABSTRACT: Introduction:Patients with positive tauopathy but negative A?42 (A-T+) in the cerebrospinal fluid (CSF) represent a diagnostic challenge. The A?42/40 ratio supersedes A?42 and reintegrates "false" A-T+ patients into the Alzheimer's disease spectrum. However, the biomarker and clinical characteristics of "true" and "false" A-T+ patients remain elusive. Methods:Among the 509 T+N+ patients extracted from the databases of three memory clinics, we analyzed T+N+ patients with normal A?42 and compared "false" A-T+ with abnormal A?42/40 ratio and "true" A-T+ patients with normal A?42/40 ratio, before CSF analysis and at follow-up. Results:24.9% of T+N+ patients had normal A?42 levels. Among them, 42.7% were "true" A-T+. "True" A-T+ had lower CSF tauP181 than "false" A-T+ patients. 48.0% of "true" A-T+ patients were diagnosed with frontotemporal lobar degeneration before CSF analysis and 64.0% at follow-up, as compared with 6% in the "false" A-T+ group (P < .0001). Discussion:Frontotemporal lobar degeneration is probably the main cause of "true" A-T+ profiles.

SUBMITTER: Pouclet-Courtemanche H

PROVIDER: S-EPMC6378630 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature

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Frontotemporal dementia is the leading cause of "true" A-/T+ profiles defined with Aβ<sub>42/40</sub> ratio.

Pouclet-Courtemanche Hélène H Nguyen Tri-Bao TB Skrobala Emilie E Boutoleau-Bretonnière Claire C Pasquier Florence F Bouaziz-Amar Elodie E Bigot-Corbel Edith E Schraen Susanna S Dumurgier Julien J Paquet Claire C Lebouvier Thibaud T

Alzheimer's & dementia (Amsterdam, Netherlands) 20190215

<h4>Introduction</h4>Patients with positive tauopathy but negative Aβ<sub>42</sub> (A-T+) in the cerebrospinal fluid (CSF) represent a diagnostic challenge. The Aβ<sub>42/40</sub> ratio supersedes Aβ<sub>42</sub> and reintegrates "false" A-T+ patients into the Alzheimer's disease spectrum. However, the biomarker and clinical characteristics of "true" and "false" A-T+ patients remain elusive.<h4>Methods</h4>Among the 509 T+N+ patients extracted from the databases of three memory clinics, we analy ...[more]

PMID: 30815533

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Project description:Although executive dysfunction is the characteristic cognitive marker of behavioral variant frontotemporal dementia (bvFTD), episodic memory deficits are relatively common, and may be present even during the prodromal disease phase. In a cohort of mutation carriers with mild behavioral and/or cognitive symptoms consistent with prodromal bvFTD, we aimed to investigate patterns of performance on an abbreviated list learning task, with a particular focus on recognition memory. We further aimed to characterize the cognitive prodromes associated with the three major genetic causes of frontotemporal dementia, as emerging evidence suggests there may be subtle differences in cognitive profiles among carriers of different genetic mutations. Participants included 57 carriers of a pathogenic mutation in microtubule-associated protein tau (MAPT, N = 23), or progranulin (GRN, N = 15), or a or a hexanucleotide repeat expansion in chromosome 9 open reading frame 72 (C9orf72, N = 19), with mild cognitive and/or behavioral symptoms consistent with prodromal bvFTD. Familial non-carriers were included as controls (N = 143). All participants completed a comprehensive neuropsychological examination, including an abbreviated list learning test assessing episodic memory recall and recognition. MAPT mutation carriers performed worse than non-carriers in terms of list recall, and had difficulty discriminating targets from distractors on the recognition memory task, primarily due to the endorsement of distractors as targets. MAPT mutation carriers also showed nonverbal episodic memory and semantic memory dysfunction (object naming). GRN mutation carriers were variable in performance and overall the most dysexecutive. Slowed psychomotor speed was evident in C9orf72 repeat expansion carriers. Identifying the earliest cognitive indicators of bvFTD is of critical clinical and research importance. List learning may be a sensitive cognitive marker for incipient dementia in MAPT and potentially a subset of GRN carriers. Our results highlight that distinct cognitive profiles may be evident in carriers of the three disease-causing genes during the prodromal disease stage.

Dataset Information

Frontotemporal dementia is the leading cause of "true" A-/T+ profiles defined with A?42/40 ratio.

Publications

Frontotemporal dementia is the leading cause of "true" A-/T+ profiles defined with Aβ<sub>42/40</sub> ratio.

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