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Alzheimers Dement ; 16(1): 60-70, 2020 01.
Artículo en Inglés | MEDLINE | ID: mdl-31914226

RESUMEN

INTRODUCTION: Behavioral variant frontotemporal dementia (bvFTD) may present sporadically or due to an autosomal dominant mutation. Characterization of both forms will improve understanding of the generalizability of assessments and treatments. METHODS: A total of 135 sporadic (s-bvFTD; mean age 63.3 years; 34% female) and 99 familial (f-bvFTD; mean age 59.9; 48% female) bvFTD participants were identified. f-bvFTD cases included 43 with known or presumed chromosome 9 open reading frame 72 (C9orf72) gene expansions, 28 with known or presumed microtubule-associated protein tau (MAPT) mutations, 14 with known progranulin (GRN) mutations, and 14 with a strong family history of FTD but no identified mutation. RESULTS: Participants with f-bvFTD were younger and had earlier age at onset. s-bvFTD had higher total Neuropsychiatric Inventory Questionnaire (NPI-Q) scores due to more frequent endorsement of depression and irritability. DISCUSSION: f-bvFTD and s-bvFTD cases are clinically similar, suggesting the generalizability of novel biomarkers, therapies, and clinical tools developed in either form to the other.


Asunto(s)
Demencia Frontotemporal , Predisposición Genética a la Enfermedad , Mutación/genética , Pruebas Neuropsicológicas/estadística & datos numéricos , Factores de Edad , Anciano , Encéfalo/patología , Proteína C9orf72/genética , Femenino , Demencia Frontotemporal/clasificación , Demencia Frontotemporal/genética , Humanos , Masculino , Persona de Mediana Edad , América del Norte , Progranulinas/genética , Proteínas tau/genética
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