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J Geriatr Psychiatry Neurol. 2015 Jun;28(2):99-107. doi: 10.1177/0891988714554710. Epub 2014 Oct 23.

Clinicopathological Study of Patients With C9ORF72-Associated Frontotemporal Dementia Presenting With Delusions.

Author information

1
Department of Neurology, Memory and Aging Center, University of California, San Francisco, CA, USA Department of Psychiatry, The Jikei University School of Medicine, Tokyo, Japan.
2
Department of Neurology, Memory and Aging Center, University of California, San Francisco, CA, USA.
3
Department of Psychiatry, University of California, Los Angeles, CA, USA Department of Neurology, University of California, Los Angeles, CA, USA.
4
Department of Neurology, Memory and Aging Center, University of California, San Francisco, CA, USA Department of Pathology, University of California, San Francisco, CA, USA.
5
Center for Neurodegenerative Disease Research, University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA, USA.
6
Department of Neurology, Memory and Aging Center, University of California, San Francisco, CA, USA Department of Pathology, University of California, San Francisco, CA, USA lea.grinberg@ucsf.edu.

Abstract

BACKGROUND:

Several clinical studies point to a high prevalence of psychotic symptoms in frontotemporal dementia associated with C9ORF72 mutations, but clinicopathological studies addressing the association between C9ORF72 mutations and delusions are lacking.

METHOD:

Seventeen patients with pathologically proven frontotemporal lobar degeneration (FTLD) associated with C9ORF72 mutations were identified from Neurodegenerative Disease Brain Bank. Of the 17 cases with C9ORF72 mutation, 4 exhibited well-defined delusions. The clinical history, neurological examination, neuropsychological testing, neuroimaging analysis, and postmortem assessment of the patients with delusions were evaluated and compared with the other cases.

RESULT:

The content of the delusions was mixed including persecution, infidelity, and grandiosity. All cases showed parkinsonism; voxel-based morphometry analysis showed greater precuneus atrophy in patients with delusions than those without delusions. All 4 had unclassifiable FTLD with TAR DNA-binding protein inclusions, with characteristics of both type A and type B. Three cases had additional τ pathology and another had α-synuclein pathology.

CONCLUSION:

C9ORF72 carriers with well-defined delusions likely associated with additional pathologies and parietal atrophy in neuroimaging. Patients presenting with middle-aged onset of delusions should be screened for C9ORF72 mutations, especially if family history and parkinsonism are present.

KEYWORDS:

C9ORF72; delusion; frontotemporal dementia; neurodegeneration; neuroimaging; neuropathology

PMID:
25342578
PMCID:
PMC4408221
DOI:
10.1177/0891988714554710
[Indexed for MEDLINE]
Free PMC Article

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