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| MOLECULAR AND PROSPECTIVE PHENOTYPIC CHARACTERIZATION OF A PEDIGREE WITH FAMILIAL ALZHEIMERS-DISEASE AND A MISSENSE MUTATION IN CODON 717 OF THE BETA-AMYLOID PRECURSOR PROTEIN GENE |
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| Author(s): KARLINSKY H, VAULA G, HAINES JL, RIDGLEY J, BERGERON C, MORTILLA M, TUPLER RG, PERCY ME, ROBITAILLE Y, NOLDY NE, YIP TCK, TANZI RE, GUSELLA JF, BECKER R, BERG JM, MCLACHLAN DRC, STGEORGEHYSLOP PH |
| Source: NEUROLOGY Volume: 42 Issue: 8 Pages: 1445-1453 Published: AUG 1992 |
| Times Cited: 125 References: 37 |
| Abstract: We present prospective clinical and neuropathologic details of a pedigree segregating familial Alzheimer's disease (FAD) associated with a mutation (G-->A substitution) at nucleotide 2149 in exon 17 of the amyloid precursor protein (APP) gene. This mutation, which is predicted to cause the missense substitution of isoleucine for valine at codon 717 of APP, cosegregated perfectly with the FAD trait (lod score = 3.49 at theta = 0.00). The earliest clinical manifestations of the disease relate to deficits in memory function, cognitive processing speed, and attention to complex cognitive sets. These changes occurred in the absence of changes in nonmemory language and visuospatial functions. The neuropathologic features of FAD associated with the APP717 mutation in this family include severe neuronal loss, abundant neurofibrillary tangles, amyloid plaques, and amyloid angiopathy. These results provide independent confirmation that mutations in the APP gene are linked to the FAD trait in some families. |
| Document Type: Article |
| Language: English |
Addresses:
1. UNIV TORONTO, CTR RES NEURODEGENERAT DIS, ROOM 120, TANZ NEUROSCI BLDG, TORONTO M5S 1A8, ONTARIO CANADA
2. UNIV TORONTO, DEPT PSYCHIAT, TORONTO M5S 1A8, ONTARIO CANADA
3. UNIV TORONTO, DEPT MED, DIV NEUROL, TORONTO M5S 1A8, ONTARIO CANADA
4. UNIV TORONTO, DEPT PSYCHOL, TORONTO M5S 1A8, ONTARIO CANADA
5. UNIV TORONTO, DEPT PATHOL, DIV NEUROPATHOL, TORONTO M5S 1A8, ONTARIO CANADA
6. UNIV TORONTO, DEPT OBSTET & GYNECOL, TORONTO M5S 1A8, ONTARIO CANADA
7. UNIV TORONTO, DEPT RADIOL, TORONTO M5S 1A8, ONTARIO CANADA
8. UNIV TORONTO, ADDICT RES FDN, INST CLIN RES & TREATMENT, TORONTO M5S 1A8, ONTARIO CANADA
9. UNIV TORONTO, QUEEN ELIZABETH HOSP, TORONTO HOSP, CONJOINT GERIATR PSYCHIAT SERV, TORONTO M5S 1A8, ONTARIO CANADA
10. UNIV TORONTO, SURREY PL CTR, TORONTO M5S 1A8, ONTARIO CANADA
11. MASSACHUSETTS GEN HOSP, MOLEC NEUROGENET LAB, BOSTON, MA 02114 USA
12. HARVARD UNIV, SCH MED, DEPT NEUROL, BOSTON, MA 02115 USA
13. HARVARD UNIV, SCH MED, DEPT GENET, BOSTON, MA 02115 USA
14. MONTREAL NEUROL HOSP & INST, DEPT NEUROPATHOL, MONTREAL H3A 2B4, QUEBEC CANADA
15. MCGILL UNIV, JEWISH REHABIL HOSP, DEPT MED, MONTREAL H3A 2T5, QUEBEC CANADA |
| Publisher: LIPPINCOTT-RAVEN PUBL, 227 EAST WASHINGTON SQ, PHILADELPHIA, PA 19106 |
| Subject Category: Clinical Neurology |
| IDS Number: JH221 |
| ISSN: 0028-3878 |
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