title: A presenilin 1 R278I mutation presenting with language impairment.
abstract: Presenilin (PSEN)1 mutations are responsible for many cases of autosomal dominant Alzheimer disease (AD), although the clinical spectrum has not been fully defined. The authors describe two members of a kindred with a novel PSEN1 mutation (R278I) presenting with language impairment and relative preservation of memory. Screening for PSEN1 mutations may be appropriate in cases of familial dementia even where the clinical phenotype is not typical of AD.
authors.affiliation: Dementia Research Centre, Department of Neurodegenerative Disease, Institute of Neurology, London, UK.
authors.forename: A K
authors.initials: AK
authors.lastname: Godbolt
authors.forename: J A
authors.initials: JA
authors.lastname: Beck
authors.forename: J
authors.initials: J
authors.lastname: Collinge
authors.forename: P
authors.initials: P
authors.lastname: Garrard
authors.forename: J D
authors.initials: JD
authors.lastname: Warren
authors.forename: N C
authors.initials: NC
authors.lastname: Fox
authors.forename: M N
authors.initials: MN
authors.lastname: Rossor
mesh_terms: D000544:Alzheimer Disease / Q000175:diagnosis* / Q000235:genetics*; D001921:Brain / Q000473:pathology; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007806:Language Disorders / Q000175:diagnosis* / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D053764:Presenilin-1
chemical_list: D008565:Membrane Proteins; C508853:PSEN1 protein, human; D053764:Presenilin-1