Different clinical phenotypes in siblings with a Presenilin-1 P264L mutation

Dementia and Geriatric Cognitive Disorders

Volumn 33, Issue 2-3, 2012, Pages 132-140

  Ishizuka, Takanori ^a   Nakamura, Masayuki ^a   Ichiba, Mio ^a   Fujita, Seigo ^b   Takeuchi, Kouzo ^c   Fujimoto, Toshiro ^c   Sano, Akira ^a  

^a KAGOSHIMA UNIVERSITY   (Japan)

^b Fujimoto Hayasuzu Hospital   (Japan)

^c Fujimoto Hospital   (Japan)

Author keywords

Alzheimer's disease; Intrafamilial heterogeneity; P264L mutation; PiB PET; PSEN1 gene

Indexed keywords

CYSTEINE ETHYL ESTER TC 99M; PITTSBURGH COMPOUND B; PRESENILIN 1;

ADULT; ALZHEIMER DISEASE; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DSM-IV-TR; FEMALE; FRONTOTEMPORAL DEMENTIA; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HETEROZYGOTE; HUMAN; JAPANESE; MALE; MISSENSE MUTATION; NEUROIMAGING; NEUROPSYCHOLOGICAL TEST; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRESENILIN 1 GENE; PRIORITY JOURNAL; SIBLING; SINGLE PHOTON EMISSION COMPUTER TOMOGRAPHY;

AGE OF ONSET; ALZHEIMER DISEASE; EXECUTIVE FUNCTION; FEMALE; FRONTOTEMPORAL DEMENTIA; GENE-ENVIRONMENT INTERACTION; HETEROZYGOTE; HUMANS; JAPAN; MALE; MENTAL COMPETENCY; MIDDLE AGED; MUTATION; NEUROIMAGING; NEUROPSYCHOLOGICAL TESTS; PEDIGREE; PRESENILIN-1; PSYCHIATRIC STATUS RATING SCALES; SIBLINGS;

EID: 84860870890     PISSN: 14208008     EISSN: 14219824     Source Type: Journal    
DOI: 10.1159/000338394     Document Type: Article

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