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Titolo:
A VARIANT OF ALZHEIMERS-DISEASE WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES DUE TO DELETION OF EXON-9 OF PRESENILIN-1
Autore:
CROOK R; VERKKONIEMI A; PEREZTUR J; MEHTA N; BAKER M; HOULDEN H; FARRER M; HUTTON M; LINCOLN S; HARDY J; GWINN K; SOMER M; PAETAU A; KALIMO H; YLIKOSKI R; POYHONEN M; KUCERA S; HALTIA M;
Indirizzi:
MAYO CLIN JACKSONVILLE,4500 SAN PABLO RD JACKSONVILLE FL 32084 MAYO CLIN JACKSONVILLE JACKSONVILLE FL 32084 UNIV HELSINKI,CENT HOSP,DEPT CLIN NEUROSCI FIN-00290 HELSINKI FINLAND MAYO CLIN SCOTTSDALE SCOTTSDALE AZ 85259 FAMILY FED FINLAND FIN-00101 HELSINKI FINLAND UNIV HELSINKI,CENT HOSP,DEPT PATHOL FIN-00014 HELSINKI FINLAND UNIV HELSINKI,HAARTMAN INST FIN-00014 HELSINKI FINLAND UNIV TURKU,DEPT PATHOL FIN-20520 TURKU FINLAND HUDDINGE HOSP,KAROLINSKA INST,DIV GERIATR MED S-14186 HUDDINGE SWEDEN OULU UNIV HOSP,DEPT CLIN GENET FIN-90220 OULU FINLAND UNIV TAMPA,DEPT BIOL TAMPA FL 33613
Titolo Testata:
Nature medicine
fascicolo: 4, volume: 4, anno: 1998,
pagine: 452 - 455
SICI:
1078-8956(1998)4:4<452:AVOAWS>2.0.ZU;2-Z
Fonte:
ISI
Lingua:
ENG
Soggetto:
EARLY-ONSET; BETA-PROTEIN; GENE; MUTATIONS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
24
Recensione:
Indirizzi per estratti:
Citazione:
R. Crook et al., "A VARIANT OF ALZHEIMERS-DISEASE WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES DUE TO DELETION OF EXON-9 OF PRESENILIN-1", Nature medicine, 4(4), 1998, pp. 452-455

Abstract

We describe a novel variant of Alzheimer's disease (AD) in a Finnish pedigree with 17 affected individuals of both sexes in three generations. The disease is characterized by progressive dementia which is, in most cases, preceded by spastic paraparesis. Neuropathological investigations revealed numerous, distinct, large, round and eosinophilic plaques as well as neurofibrillary tangles and amyloid angiopathy throughout the cerebral cortex. The predominant plaques resembled cotton woolballs and were immunoreactive for AP but lacked a congophilic dense core or marked plaque-related neuritic pathology. Molecular genetic analysis revealed that the disease was caused by a deletion of exon 9 (Delta 9) of the presenilin 1 (PSI) gene from the mRNA: unlike previous examples of the Delta 9 variant, the deletion was not caused by a splice acceptor site mutation.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 25/11/20 alle ore 06:59:36