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Titolo:
FAMILIAL CREUTZFELDT-JAKOB-DISEASE WITH A 5-REPEAT OCTAPEPTIDE INSERTMUTATION
Autore:
COCHRAN EJ; BENNETT DA; CERVENAKOVA L; KENNEY K; BERNARD B; FOSTER NL; BENSON DF; GOLDFARB LG; BROWN P;
Indirizzi:
RUSH PRESBYTERIAN ST LUKES MED CTR,RUSH ALZHEIMERS DIS CTR,DEPT NEUROL SCI,TECH 2000-SUITE 200 CHICAGO IL 60612 RUSH PRESBYTERIAN ST LUKES MED CTR,DEPT PATHOL CHICAGO IL 60612 NINCDS,NIH,CNS STUDIES LAB BETHESDA MD 00000 UNIV MICHIGAN,MED CTR,MICHIGAN ALZHEIMERS DIS RES CTR,DEPT NEUROL ANNARBOR MI 00000 UNIV CALIF LOS ANGELES,SCH MED LOS ANGELES CA 00000
Titolo Testata:
Neurology
fascicolo: 3, volume: 47, anno: 1996,
pagine: 727 - 733
SICI:
0028-3878(1996)47:3<727:FCWA5O>2.0.ZU;2-2
Fonte:
ISI
Lingua:
ENG
Soggetto:
PRION PROTEIN GENE; AMYLOID PRECURSOR GENE; 144-BASE-PAIR INSERTION; DNA POLYMORPHISM; PRNP GENE; INSOMNIA; DIAGNOSIS; FEATURES; DEMENTIA;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
27
Recensione:
Indirizzi per estratti:
Citazione:
E.J. Cochran et al., "FAMILIAL CREUTZFELDT-JAKOB-DISEASE WITH A 5-REPEAT OCTAPEPTIDE INSERTMUTATION", Neurology, 47(3), 1996, pp. 727-733

Abstract

We report a familial form of Creutzfeldt-Jakob disease, associated with a unique insert mutation of the PRNP gene in an American family of Ukrainian origin. Ten family members exhibited early age at onset and long-duration illnesses characterized primarily by personality changes, cognitive impairment, and spasticity. The proband, presenting at age42 years, exhibited a fairly stable, nonprogressive course over 7 years, followed by precipitous decline and death in the eighth year. Other affected family members exhibited marked clinical heterogeneity. Each tested affected member had an insert mutation consisting of five extra octapeptide repeats between codons 51 and 91 of the PRNP gene on chromosome 20. Examination of two autopsy cases showed classic spongiform change, neuronal loss and astrocytosis in one case, and minimal pathologic abnormality in the other case. This report documents a new insert mutation of the PRNP gene, and confirms the early age of onset, characteristically prolonged clinical course, and clinical and pathologicheterogeneity seen in such mutations.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 07/08/20 alle ore 00:44:52