A presenilin 1 mutation (L420R) in a family with early onset Alzheimer disease, seizures and cotton wool plaques, but not spastic paraparesis

Neuropathology

Volumn 27, Issue 3, 2007, Pages 228-232

  Shrimpton, Antony E ^a,f   Schelper, Robert L ^a   Linke, Reinhold P ^b   Hardy, John ^c   Crook, Richard ^d   Dickson, Dennis W ^d   Ishizawa, Takashi ^e   Davis, Richard L ^a  

^a SUNY UPSTATE MEDICAL UNIVERSITY   (United States)

^b Reference Center of Amyloid Diseases   (Germany)

^c NATIONAL INSTITUTE ON AGING   (United States)

^d MAYO GRADUATE SCHOOL   (United States)

^e SAITAMA MEDICAL UNIVERSITY   (Japan)

^f State University of New York Upstate Medical University: College of Medicine   (United States)

Author keywords

Alzheimer disease; Amyloid beta protein; Presenilin 1; Senile plaques; Spastic paraparesis

Indexed keywords

PRESENILIN 1;

ALZHEIMER DISEASE; ARTICLE; CONTROLLED STUDY; DISEASE COURSE; DNA SEQUENCE; FAMILIAL DISEASE; GENE MUTATION; GENETIC ASSOCIATION; HUMAN; HUMAN TISSUE; LEPTOMENINX; MISSENSE MUTATION; MUTAGENESIS; NEUROPATHOLOGY; POINT MUTATION; PRIORITY JOURNAL; PROTEIN DOMAIN; SEIZURE; SENILE PLAQUE; SPASTIC PARAPLEGIA;

ALZHEIMER DISEASE; AMYLOID BETA-PROTEIN; ARTHRITIS, RHEUMATOID; BRAIN; DIABETES MELLITUS, TYPE 2; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; HYPERTENSION; IMMUNOHISTOCHEMISTRY; MALE; MUTATION, MISSENSE; PARAPARESIS, SPASTIC; PEDIGREE; POINT MUTATION; PRESENILIN-1; SEIZURES; SENILE PLAQUES;

EID: 34249009175     PISSN: 09196544     EISSN: 14401789     Source Type: Journal    
DOI: 10.1111/j.1440-1789.2007.00766.x     Document Type: Article

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