Two novel presenilin-1 mutations (Y256S and Q222H) are associated with early-onset Alzheimer's disease

Neurobiology of Aging

Volumn 24, Issue 5, 2003, Pages 655-662

  Miklossy, Judith ^a,c   Taddei, Kevin ^b   Suva, Domizio ^c   Verdile, Giuseppe ^b   Fonte, Justin ^b   Fisher, Christopher ^b   Gnjec, Anastazija ^b   Ghika, Joseph ^d   Suard, Françoise ^e   Mehta, Pankaj D ^f   McLean, Catriona A ^g,h   Masters, Colin L ^h   Brooks, William S ⁱ   Martins, Ralph N ^b  

^a Temple University   (United States)

^b UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^c UNIVERSITY INSTITUTE OF PATHOLOGY   (Switzerland)

^d LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^e Psychiat and Psychogeriatry of Nant   (Switzerland)

^f NEW YORK STATE INSTITUTE FOR BASIC RESEARCH IN DEVELOPMENTAL DISABILITIES   (United States)

^g ALFRED HOSPITAL   (Australia)

^h UNIVERSITY OF MELBOURNE   (Australia)

ⁱ UNIVERSITY OF SYDNEY   (Australia)

Author keywords

Early onset familial Alzheimer's disease; Motor dysfunction; Presenilin 1 mutation; Primary motor cortex; Pyramidal signs; Tetraspasticity

Indexed keywords

AMYLOID BETA PROTEIN[1-40]; AMYLOID BETA PROTEIN[1-42]; GENOMIC DNA; GLUTAMINE; HISTONE; MUTANT PROTEIN; PRESENILIN 1; SERINE; TYROSINE; UNCLASSIFIED DRUG; AMYLOID BETA PROTEIN; AMYLOID BETA PROTEIN (1 42); AMYLOID BETA-PROTEIN (1-42); HISTIDINE; MEMBRANE PROTEIN; PEPTIDE FRAGMENT; PSEN1 PROTEIN, HUMAN;

ADULT; ALZHEIMER DISEASE; ARTICLE; AUTOPSY; BRAIN CORTEX; BRAIN DEGENERATION; CASE REPORT; CORRELATION ANALYSIS; DISEASE SEVERITY; DNA TEMPLATE; ENZYME LINKED IMMUNOSORBENT ASSAY; FAMILIAL DISEASE; FEMALE; GENE AMPLIFICATION; GENE LOCATION; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; HUMAN; IMMUNOBLOTTING; MALE; MISSENSE MUTATION; MORPHOMETRICS; MOTOR CORTEX; MUTATIONAL ANALYSIS; NEUROPATHOLOGY; ONSET AGE; PEDIGREE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN DETERMINATION; PROTEIN DOMAIN; PROTEIN EXPRESSION; PROTEIN FUNCTION; PYRAMIDAL SIGN; SPASTICITY; AMINO ACID SUBSTITUTION; BRAIN; FAMILY HEALTH; GENETICS; IMMUNOHISTOCHEMISTRY; METABOLISM; NUCLEOTIDE SEQUENCE; PATHOLOGY; SENILE PLAQUE; WESTERN BLOTTING;

ADULT; ALZHEIMER DISEASE; AMINO ACID SUBSTITUTION; AMYLOID BETA-PROTEIN; BLOTTING, WESTERN; BRAIN; DNA MUTATIONAL ANALYSIS; ENZYME-LINKED IMMUNOSORBENT ASSAY; FAMILY HEALTH; FEMALE; GLUTAMINE; HISTIDINE; HUMANS; IMMUNOHISTOCHEMISTRY; MEMBRANE PROTEINS; MUTATION, MISSENSE; PEDIGREE; PEPTIDE FRAGMENTS; PRESENILIN-1; SENILE PLAQUES; SERINE; TYROSINE;

EID: 0042385121     PISSN: 01974580     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0197-4580(02)00192-6     Document Type: Article

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