Invited review: Frontotemporal dementia caused by microtubule‐associated protein tau gene (MAPT) mutations: a chameleon for neuropathology and neuroimaging

2014/12/31 by Bernardino Ghetti, Adrian L. Oblak, Bradley F. Boeve +3 · 2 citations
Medicine · #Alzheimer's disease research and treatments #Amyotrophic Lateral Sclerosis Research #Cerebrovascular and genetic disorders

paper · pdf · doi:10.1111/nan.12213

openalex publication_date 2014/12/31 · openalex created_date 2016/06/24 · openalex updated_date 2026/08/01

Abstract

Hereditary frontotemporal dementia associated with mutations in the microtubule-associated protein tau gene (MAPT) is a protean disorder. Three neuropathologic subtypes can be recognized, based on the presence of inclusions made of tau isoforms with three and four repeats, predominantly three repeats and mostly four repeats. This is relevant for establishing a correlation between structural magnetic resonance imaging and positron emission tomography using tracers specific for aggregated tau. Longitudinal studies will be essential to determine the evolution of anatomical alterations from the asymptomatic stage to the various phases of disease following the onset of symptoms.

Citations

• Segregation of a Missense Mutation in the Microtubule-Associated Protein Tau Gene with Familial Frontotemporal Dementia and Parkinsonism

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