title: Early-onset Alzheimer's disease due to mutations of the presenilin-1 gene on chromosome 14: a 7-year follow-up of a patient with a mutation at codon 139.
abstract: Mutations in the presenilin-1 gene (PS-1 gene) on chromosome 14 have recently been identified as a cause of familial early-onset Alzheimer's disease (EOAD). To our knowledge, only two German EOAD patients with mutations in the PS-1 gene have been identified thus far. Herein we report the case of a German EOAD patient with a family history of dementia and a missense mutation at codon 139 (M139V) of the PS-1 gene. The patient came to our clinic for the first time when he was 44 years old. During the following 7 years, his Mini-Mental State Examination (MMSE) score dropped from 24 to 0. Myocloni were an early neurological symptom that was already present during the first consultation. We could demonstrate that myoclonic activity was of cortical origin using a back-averaging method. Magnetic resonance imaging (MRI) revealed only slight changes in the early stage of the disease. Follow-up MRI studies showed progression of bitemporal ventricular enlargement and progressive frontal and temporal cortical atrophy. Although the majority of EOAD patients belong to the sporadic (non-genetic) type of AD, early-onset dementia, early myocloni and a familial history of AD should direct attention to the possibility of a genetic form of AD.
authors.affiliation: Department of Psychiatry and Psychotherapy, University of Freiburg Medical School, Germany.
authors.forename: M
authors.initials: M
authors.lastname: Hüll
authors.forename: B L
authors.initials: BL
authors.lastname: Fiebich
authors.forename: P
authors.initials: P
authors.lastname: Dykierek
authors.forename: K
authors.initials: K
authors.lastname: Schmidtke
authors.forename: E
authors.initials: E
authors.lastname: Nitzsche
authors.forename: M
authors.initials: M
authors.lastname: Orszagh
authors.forename: G
authors.initials: G
authors.lastname: Deuschl
authors.forename: E
authors.initials: E
authors.lastname: Moser
authors.forename: M
authors.initials: M
authors.lastname: Schumacher
authors.forename: C
authors.initials: C
authors.lastname: Lücking
authors.forename: M
authors.initials: M
authors.lastname: Berger
authors.forename: J
authors.initials: J
authors.lastname: Bauer
mesh_terms: D000328:Adult; D000544:Alzheimer Disease / Q000175:diagnosis / Q000235:genetics*; D001921:Brain / Q000000981:diagnostic imaging; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics*; D018450:Disease Progression; D005500:Follow-Up Studies; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree; D053764:Presenilin-1; D011569:Psychiatric Status Rating Scales; D011859:Radiography; D015899:Tomography, Emission-Computed, Single-Photon
chemical_list: D008565:Membrane Proteins; C508853:PSEN1 protein, human; D053764:Presenilin-1