title: Presymptomatic studies in genetic frontotemporal dementia.
abstract: Approximately 20% of patients with the neurodegenerative disorder frontotemporal dementia (FTD) have an autosomal dominant pattern of inheritance. Genetic FTD is caused by mutations in three genes in most cases (progranulin, microtubule-associated protein tau and chromosome 9 open reading frame 72) although a number of other genes are rare causes. Studies of other neurodegenerative diseases have shown imaging and biomarker evidence of disease onset many years prior to the development of symptoms. Similar studies in genetic FTD are now revealing evidence of a series of presymptomatic changes, initially in plasma biomarkers followed by MR imaging abnormalities of functional and structural connectivity and then grey matter atrophy. Lastly, neuropsychometric tests become abnormal in proximity to the onset of symptoms. Such studies have been relatively small until now but research centres with an expertise in genetic FTD are now forming consortia such as the Genetic Frontotemporal Dementia Initiative (GenFI) to create larger cohorts that can form the basis of future clinical trials.
authors.affiliation: Dementia Research Centre, UCL Institute of Neurology, University College London, Queen Square, London, WC1N 3BG, UK. Electronic address: j.rohrer@ucl.ac.uk.
authors.forename: J D
authors.initials: JD
authors.lastname: Rohrer
authors.forename: J D
authors.initials: JD
authors.lastname: Warren
authors.forename: N C
authors.initials: NC
authors.lastname: Fox
authors.forename: M N
authors.initials: MN
authors.lastname: Rossor
mesh_terms: D058070:Asymptomatic Diseases; D003943:Diagnostic Techniques, Neurological / Q000639:trends; D042241:Early Diagnosis; D057180:Frontotemporal Dementia / Q000235:genetics*; D006801:Humans; D025202:Molecular Diagnostic Techniques / Q000379:methods
keywords: Aphasie progressive primaire; C9ORF72; C9orf72; Dégénérescence lobaire frontotemporale; Démence frontotemporale; Frontotemporal dementia; MAPT; Primary progressive aphasia; Progranulin; Progranuline; Tau