title: Slowly progressive frontotemporal lobar degeneration caused by the C9ORF72 repeat expansion: a 20-year follow-up study.
abstract: A hexanucleotide expansion in chromosome 9 open-reading frame 72 (C9ORF72) has been found to be a major cause of frontotemporal lobar degeneration (FTLD). We describe a 20-year follow-up of a unique case with very slowly progressive FTLD caused by the C9ORF72 repeat expansion. In serial neuropsychological examinations, the patient's cognitive decline was exceptionally slow and after 20 years the patient still was mainly independent in activities of daily living. Our case indicates that there is great individual variation in the progression and duration of C9ORF72-associated FTLD, and also language variants or mixed phenotypes may be present.
authors.affiliation: a Institute of Clinical Medicine, Neurology , University of Oulu , Oulu , Finland.
authors.forename: N-M
authors.initials: NM
authors.lastname: Suhonen
authors.forename: A-L
authors.initials: AL
authors.lastname: Kaivorinne
authors.forename: V
authors.initials: V
authors.lastname: Moilanen
authors.forename: M
authors.initials: M
authors.lastname: Bode
authors.forename: R
authors.initials: R
authors.lastname: Takalo
authors.forename: T
authors.initials: T
authors.lastname: Hänninen
authors.forename: A M
authors.initials: AM
authors.lastname: Remes
mesh_terms: D000073885:C9orf72 Protein; D042622:DNA Repeat Expansion; D018450:Disease Progression; D019788:Fluorodeoxyglucose F18; D005500:Follow-Up Studies; D057174:Frontotemporal Lobar Degeneration / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D049268:Positron-Emission Tomography; D011506:Proteins / Q000235:genetics*
chemical_list: D000073885:C9orf72 Protein; C568651:C9orf72 protein, human; D011506:Proteins; D019788:Fluorodeoxyglucose F18
keywords: cognition; frontotemporal dementia; genetics; neuropsychology; semantic dementia