Novel presenilin 1 mutation with profound neurofibrillary pathology in an indigenous Southern African family with early-onset Alzheimer's disease

Brain

Volumn 127, Issue 1, 2004, Pages 133-142

  Heckmann, Jeannine M ^a   Low, Wee Chuang ^c   De Villiers, Cora ^a   Rutherfoord, Stuart ^b   Vorster, Alvera ^a   Rao, Harpal ^c   Morris, Christopher M ^c   Ramesar, Raj S ^a   Kalaria, Raj N ^c  

^a UNIVERSITY OF CAPE TOWN   (South Africa)

^b STELLENBOSCH UNIVERSITY   (South Africa)

^c NEWCASTLE GENERAL HOSPITAL   (United Kingdom)

Author keywords

Africa; Alzheimer's disease; Apolipoprotein E; Neurofibrillary tangles; Presenilin

Indexed keywords

ADENINE; AMYLOID BETA PROTEIN; APOLIPOPROTEIN E4; GENE PRODUCT; GUANINE; PRESENILIN 1; THYMINE;

ADULT; AGED; ALLELISM; ALZHEIMER DISEASE; AMINO ACID SUBSTITUTION; ARTICLE; AUTOPSY; CHROMOSOME 14; CLINICAL ARTICLE; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CORRELATION ANALYSIS; DISEASE ASSOCIATION; FAMILIAL DISEASE; FEMALE; GENE; GENE MUTATION; GENETIC PREDISPOSITION; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; LINKAGE ANALYSIS; MALE; NERVE DEGENERATION; NEUROFIBRILLARY TANGLE; ONSET AGE; PATHOGENESIS; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; PS1 GENE; PSYCHOMETRY; SENILE PLAQUE; SOUTH AFRICA;

EID: 0347989169     PISSN: 00068950     EISSN: None     Source Type: Journal    
DOI: 10.1093/brain/awh009     Document Type: Article

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