Alzheimer's disease with spastic paraparesis and 'cotton wool' plaques: Two pedigrees with PS-1 exon 9 deletions

Brain

Volumn 126, Issue 4, 2003, Pages 783-791

  Brooks, William S ^a,b,h   Kwok, John B J ^c   Kril, Jillian J ^a   Broe, G Anthony ^b   Blumbergs, Peter C ^d   Tannenberg, Anthony E ^e   Lamont, Phillipa J ^f   Hedges, Philippa ^g   Schofield, Peter R ^b,c  

^a UNIVERSITY OF SYDNEY   (Australia)

^b UNIVERSITY OF NEW SOUTH WALES   (Australia)

^c GARVAN INSTITUTE OF MEDICAL RESEARCH   (Australia)

^d UNIVERSITY OF ADELAIDE   (Australia)

^e QML Pathology   (Australia)

^f ROYAL PERTH HOSPITAL   (Australia)

^g Lourdes Hospital   (Australia)

^h NEUROSCIENCE RESEARCH AUSTRALIA   (Australia)

Author keywords

Cotton wool plaques; Exon 9 splice acceptor mutation; Familial Alzheimer's disease; Presenilin 1; Spastic paraparesis

Indexed keywords

PRESENILIN 1; MEMBRANE PROTEIN; PSEN1 PROTEIN, HUMAN;

ADULT; ALZHEIMER DISEASE; ARTICLE; CASE REPORT; CLINICAL FEATURE; DNA SPLICING; DOMINANT INHERITANCE; EXON; FAMILIAL DISEASE; FEMALE; GENE DELETION; GENE MUTATION; GENETICS; HUMAN; HUMAN TISSUE; MALE; NEUROPATHOLOGY; NEUROPROTECTION; ONSET AGE; PEDIGREE; PHENOTYPE; PRESENILE DEMENTIA; PRIORITY JOURNAL; SENILE PLAQUE; SPASTIC PARAPLEGIA; MIDDLE AGED; MUTATION; PATHOLOGY;

ADULT; AGE OF ONSET; ALZHEIMER DISEASE; EXONS; GENE DELETION; HUMANS; MEMBRANE PROTEINS; MIDDLE AGED; MUTATION; PARAPARESIS, SPASTIC; PEDIGREE; PRESENILIN-1;

EID: 0037379350     PISSN: 00068950     EISSN: None     Source Type: Journal    
DOI: 10.1093/brain/awg084     Document Type: Article

References (24)

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