title: Familial frontotemporal dementia associated with a novel presenilin-1 mutation.
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.
authors.affiliation: Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA.
authors.forename: D
authors.initials: D
authors.lastname: Tang-Wai
authors.forename: P
authors.initials: P
authors.lastname: Lewis
authors.forename: Bradley
authors.initials: B
authors.lastname: Boeve
authors.forename: M
authors.initials: M
authors.lastname: Hutton
authors.forename: T
authors.initials: T
authors.lastname: Golde
authors.forename: M
authors.initials: M
authors.lastname: Baker
authors.forename: J
authors.initials: J
authors.lastname: Hardy
authors.forename: V
authors.initials: V
authors.lastname: Michels
authors.forename: R
authors.initials: R
authors.lastname: Ivnik
authors.forename: C
authors.initials: C
authors.lastname: Jack
authors.forename: R
authors.initials: R
authors.lastname: Petersen
mesh_terms: D003704:Dementia / Q000175:diagnosis / Q000235:genetics* / Q000523:psychology; D006801:Humans; D007360:Intelligence; D008279:Magnetic Resonance Imaging; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D009483:Neuropsychological Tests; D010375:Pedigree; D053764:Presenilin-1
chemical_list: D008565:Membrane Proteins; C508853:PSEN1 protein, human; D053764:Presenilin-1