Psychosis and hallucinations in frontotemporal dementia with the C9ORF72 mutation: a detailed clinical cohort.
OBJECTIVE
To specify the presenting symptoms and clinical course of patients with frontotemporal dementia (FTD) and chromosome 9 open reading frame 72 (C9ORF72) repeat expansion.


BACKGROUND
The 2011 discovery of the C9ORF72 repeat expansion causing familial FTD and amyotrophic lateral sclerosis has permitted retrospective evaluation of potential defining clinical characteristics that may distinguish carriers of the C9ORF72 mutation from other patients with FTD. Prior reports identified a subset of patients with FTD who had an unusually high prevalence of psychosis, although their specific symptoms had not yet been fully described.


METHODS
From a cohort of 62 patients with FTD, we conducted a retrospective chart review of 7 patients who had C9ORF72 mutations on genetic testing, and 1 untested sibling of a C9ORF72 carrier.


RESULTS
Detailed histories revealed a higher prevalence of psychosis, including visual and auditory hallucinations and delusions, in the 8 C9ORF72 carriers than in our patients with sporadic FTD.


CONCLUSIONS
This cohort confirms and adds clinical details to the reports of a high prevalence of psychotic phenomena in patients who have C9ORF72 mutations as well as FTD or amyotrophic lateral sclerosis.
Departments of *Clinical Neurological Sciences and †Pathology, Schulich School of Medicine and Dentistry, University of Western Ontario, London, ON, Canada ‡Department of Neuroscience, Mayo Clinic, Jacksonville, FL.
Andrew
A
Kertesz
Lee Cyn
LC
Ang
Sarah
S
Jesso
Julia
J
MacKinley
Matt
M
Baker
Patricia
P
Brown
Christen
C
Shoesmith
Rosa
R
Rademakers
Elizabeth C
EC
Finger
D000328:Adult; D000368:Aged; D000690:Amyotrophic Lateral Sclerosis / Q000453:epidemiology / Q000235:genetics*; D001479:Basal Ganglia / Q000473:pathology; D000073885:C9orf72 Protein; D002540:Cerebral Cortex / Q000473:pathology; D015331:Cohort Studies; D015897:Comorbidity; D042622:DNA Repeat Expansion; D017809:Fatal Outcome; D005260:Female; D057180:Frontotemporal Dementia / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D006212:Hallucinations / Q000453:epidemiology / Q000235:genetics*; D006579:Heterozygote; D006624:Hippocampus / Q000473:pathology; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009483:Neuropsychological Tests; D011506:Proteins / Q000235:genetics*; D011618:Psychotic Disorders / Q000453:epidemiology / Q000235:genetics*; D012189:Retrospective Studies; D013378:Substantia Nigra / Q000473:pathology
D000073885:C9orf72 Protein; C568651:C9orf72 protein, human; D011506:Proteins