title: Clinical heterogeneity of the C9orf72 genetic mutation in frontotemporal dementia.
abstract: The C9orf72 genetic mutation represents the most common cause of familial frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). Studies over the last 2 years have revealed a number of key features of this mutation in the fields of clinical neurology, imaging, pathology, and genetics. Despite these efforts, the clinical phenotype appears to extend beyond FTD and ALS into the realm of psychiatric disease, and while highly variable survival rates have been reported, the clinical course of carriers remains relatively unexplored. This report describes two contrasting C9orf72 cases, one with a protracted indolent course dominated by neuropsychiatric features and the other with a rapidly progressive dementia. In both cases, initial structural brain imaging was relatively normal.
authors.affiliation: a Neuroscience Research Australia , Sydney , NSW , Australia.
authors.forename: E
authors.initials: E
authors.lastname: Devenney
authors.forename: D
authors.initials: D
authors.lastname: Foxe
authors.forename: C
authors.initials: C
authors.lastname: Dobson-Stone
authors.forename: J B
authors.initials: JB
authors.lastname: Kwok
authors.forename: M C
authors.initials: MC
authors.lastname: Kiernan
authors.forename: J R
authors.initials: JR
authors.lastname: Hodges
mesh_terms: D001921:Brain / Q000473:pathology*; D000073885:C9orf72 Protein; D003071:Cognition; D018450:Disease Progression; D056344:Executive Function; D005260:Female; D057180:Frontotemporal Dementia / Q000235:genetics* / Q000473:pathology* / Q000523:psychology; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009483:Neuropsychological Tests; D011506:Proteins / Q000235:genetics*
chemical_list: D000073885:C9orf72 Protein; C568651:C9orf72 protein, human; D011506:Proteins
keywords: C9orf72; amyotrophic lateral sclerosis neuroimaging; frontotemporal dementia; neuropsychiatry