Early symptoms in symptomatic and preclinical genetic frontotemporal lobar degeneration.
Обработка статьи · этапы, ошибки и управление
Ошибки и ограничения
История · было → стало
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Tavares Tamara Paulo, Mitchell Derek G V, Coleman Kristy Kl, Coleman Brenda L, Shoesmith Christen L, Butler Christopher R, Santana Isabel, Danek Adrian, Gerhard Alexander, de Mendonca Alexandre, Borroni Barbara, Tartaglia Maria Carmela, Graff Caroline, Galimberti Daniela, Tagliavini Fabrizio, Moreno Fermin, Frisoni Giovanni, Rowe James Benedict, Levin Johannes, Van Swieten John Cornelis, Otto Markus, Synofzik Matthis, Sanchez-Valle Raquel, Vandenberghe Rik, Laforce Robert Jr, Ghidoni Roberta, Sorbi Sandro, Ducharme Simon, Masellis Mario, Rohrer Jonathan, Finger Elizabeth, GENFI Initiative
Аннотация
METHODS: The current study used data from the Genetic Frontotemporal Dementia Initiative multicentre cohort study collected between 2012 and 2018. Participants included symptomatic carriers (n=185) of a pathogenic mutation in chromosome 9 open reading frame 72 (C9orf72), progranulin (GRN) or microtubule-associated protein tau (MAPT) and their first-degree biological family members (n=588). Symptom endorsement was documented using informant and clinician-rated scales.
RESULTS: The most frequently endorsed initial symptoms among symptomatic patients were apathy (23%), disinhibition (18%), memory impairments (12%), decreased fluency (8%) and impaired articulation (5%). Predominant first symptoms were usually discordant between family members. Relative to biologically related non-carriers, preclinical MAPT carriers endorsed worse mood and sleep symptoms, and C9orf72 carriers endorsed marginally greater abnormal behaviours. Preclinical GRN carriers endorsed less mood symptoms compared with non-carriers, and worse everyday skills.
CONCLUSION: Preclinical mutation carriers exhibited neuropsychiatric symptoms compared with non-carriers that may be considered as future clinical trial outcomes. Given the heterogeneity in symptoms, the detection of clinical transition to symptomatic FTD may be best captured by composite indices integrating the most common initial symptoms for each genetic group.