Familial frontotemporal dementia associated with a novel presenilin-1 mutation.

Full Abstract

We report a kindred with three cases of dementia. The proband presented with forgetfulness and personality changes at age 56, followed shortly thereafter by behavioral dyscontrol, hyperphagia, hypersexuality, delusions, illusions, disinhibition and double incontinence. Neuroimaging studies were consistent with frontotemporal dementia (FTD). In one allele, an arginine insertion at codon 352 in the presenilin 1 (PSEN1) gene was identified; no mutation was identified in the amyloid precursor protein or tau genes. We conclude that the clinical features of the Kluver-Bucy syndrome and FTD can be associated with PSEN1 mutations. Furthermore, presenilin analyses may be helpful to characterize kindreds with familial dementing illnesses regardless of the phenotype, particularly if no tau mutation is present.Copyright 2002 S. Karger AG, Basel

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Author information

Author/s: Tang-Wai, D (D); Lewis, P (P); Boeve, Bradley (B); Hutton, M (M); Golde, T (T); Baker, M (M); Hardy, J (J); Michels, V (V); Ivnik, R (R); Jack, C (C); Petersen, R (R);

Affiliation: Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA.

Grants: AG 07216 (Agency:United States NIA) ; AG 16574 (Agency:United States NIA)

Journal and publication information

Publication Type: Journal Article; Research Support, U.S. Gov't, P.H.S.

Journal: Dementia and geriatric cognitive disorders (Dement Geriatr Cogn Disord), published in Switzerland. (Language: eng)

Reference: 2002-; vol 14 (issue 1) : pp 13-21

Dates: Created 2002/06/07; Completed 2002/07/26; Revised 2008/03/24;

PMID: 12053127, status: MEDLINE (last retrieval date: 11/6/2008)

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MeSH headings (categories)

This article was linked to the MESH Headings shown below.

Dementia - diagnosis; genetics; psychology
Humans
Intelligence
Magnetic Resonance Imaging
Membrane Proteins - genetics

Associated Chemicals: Membrane Proteins (0) ; PSEN1 protein, human (0) ; Presenilin-1 (0)

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