Neuroimaging and biochemical markers in the three variants of primary progressive aphasia

Autor: Lorena Rami, Ramón Reñé, Francisco Lomeña, José Luis Molinuevo, Anna Antonell, N. Montagut, S. Gil-Navarro, Magdalena Castellví, Albert Lladó, Beatriz Bosch, Raquel Sánchez-Valle, Núria Bargalló
Rok vydání: 2012
Předmět:
Genetic Markers
Male
Cognitive Neuroscience
Neuroimaging
Neuropsychological Tests
Bioinformatics
behavioral disciplines and activities
Primary progressive aphasia
Cohort Studies
Apolipoproteins E
Progranulins
Alzheimer Disease
Aphasia
medicine
Image Processing
Computer-Assisted
Humans
Age of Onset
Biochemical markers
Aged
Tomography
Emission-Computed
Single-Photon
DNA Repeat Expansion
business.industry
food and beverages
Genetic Variation
respiratory system
Middle Aged
medicine.disease
Magnetic Resonance Imaging
nervous system diseases
carbohydrates (lipids)
Psychiatry and Mental health
Aphasia
Primary Progressive
Socioeconomic Factors
Educational Status
Intercellular Signaling Peptides and Proteins
Female
Geriatrics and Gerontology
medicine.symptom
Age of onset
business
Neuroscience
Biomarkers
Frontotemporal dementia
Zdroj: Dementia and geriatric cognitive disorders. 35(1-2)
ISSN: 1421-9824
Popis: Background/Aim: To investigate in variants of primary progressive aphasia (PPA) the association between current clinical and neuroimaging criteria and biochemical/genetic markers at the individual level. Methods: Thirty-two PPA patients were classified as non-fluent/agrammatic (nfvPPA), semantic (svPPA), or logopenic variant (lvPPA) or as unclassifiable (uPPA). In all patients, we evaluated the neuroimaging criteria (magnetic resonance imaging and/or single photon emission computed tomography/positron emission tomography) of each variant and studied serum progranulin levels, APOE genotype and Alzheimer’s disease (AD)-cerebrospinal fluid (CSF) biomarkers. Cases with a first-degree family history of early-onset dementia were genetically tested. Results: Ten of 15 (66%) nfvPPA, 5/5 (100%) svPPA and 7/7 (100%) lvPPA patients showed at least one positive neuroimaging-supported diagnostic criterion. All lvPPA and 3/5 (60%) uPPA patients presented AD-CSF biomarkers, which were absent in nfvPPA and svPPA cases. Four (27%) nfvPPA patients had dementia-causing mutations: 2 carried a GRN mutation and 2 the C9ORF72 hexanucleotide expansion. Conclusions: There was an excellent association between clinical criteria and neuroimaging-supported biomarkers in svPPA and lvPPA, as well as with AD-CSF biochemical markers in the lvPPA. Neuroimaging, biochemical and genetic findings in nfvPPA were heterogeneous. Incorporating biochemical/genetic markers into the PPA clinical diagnosis would allow clinicians to improve their predictions of PPA neuropathology, especially in nfvPPA and uPPA cases.
Databáze: OpenAIRE
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