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Titolo:
THE ORIGINAL GERSTMANN-STRAUSSLER-SCHEINKER FAMILY OF AUSTRIA - DIVERGENT CLINICOPATHOLOGICAL PHENOTYPES BUT CONSTANT PRP GENOTYPE
Autore:
HAINFELLNER JA; BRANTNERINTHALER S; CERVENAKOVA L; BROWN P; KITAMOTO T; TATEISHI J; DIRINGER H; LIBERSKI PP; REGELE H; FEUCHT R; MAYR N; WESSELY P; SUMMER K; SEITELBERGER F; BUDKA H;
Indirizzi:
AKH,INST NEUROL,WAHRINGER GURTEL 18-20 A-1097 VIENNA AUSTRIA UNIV VIENNA,INST NEUROL VIENNA AUSTRIA UNIV VIENNA,NEUROL CLIN VIENNA AUSTRIA UNIV VIENNA,INST PATHOL VIENNA AUSTRIA HOSP RUDOLFSTIFTUNG,DEPT NEUROL VIENNA AUSTRIA NIH,CENT NERVOUS SYST STUDIES LAB BETHESDA MD 20892 KYUSHU UNIV,INST NEUROL FUKUOKA 812 JAPAN BUNDESGESUNDHEITSAMT,ROBERT KOCH INST W-1000 BERLIN GERMANY MED ACAD LODZ,DEPT ONCOL LODZ POLAND
Titolo Testata:
Brain pathology
fascicolo: 3, volume: 5, anno: 1995,
pagine: 201 - 211
SICI:
1015-6305(1995)5:3<201:TOGFOA>2.0.ZU;2-E
Fonte:
ISI
Lingua:
ENG
Soggetto:
CREUTZFELDT-JAKOB-DISEASE; CENTRAL-NERVOUS-SYSTEM; PRION PROTEIN; NEUROFIBRILLARY TANGLES; AMYLOID PLAQUE; SPONGIFORM ENCEPHALOPATHY; MUTATION; VARIANT; NEUROFILAMENT; CONTAIN;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
54
Recensione:
Indirizzi per estratti:
Citazione:
J.A. Hainfellner et al., "THE ORIGINAL GERSTMANN-STRAUSSLER-SCHEINKER FAMILY OF AUSTRIA - DIVERGENT CLINICOPATHOLOGICAL PHENOTYPES BUT CONSTANT PRP GENOTYPE", Brain pathology, 5(3), 1995, pp. 201-211

Abstract

We present new data on the original Austrian kindred with Gerstmann-Straussler-Scheinker disease (GSS) which encompasses currently 221 members in 9 generations. The mode of inheritance is autosomal dominant. Predominant clinical features are slowly progressive ataxia and late impairment of higher cerebral functions. In contrast, a recent case withproven P102L mutation of the PRNP gene had rapidly developing dementia and severe cortical damage indistinguishable from the clinicopathological phenotype of Creutzfeldt-Jakob disease (CJD). PRNP codon 129 washomozygous for methionine in both the historic and recent cases. Neuropathology confirms spongiosis of variable degree and numerous protease resistant / prion protein (PrP) amyloid plaques scattered throughoutmost of the brain as constant features in this family. Some amyloid deposits are surrounded by dystrophic neurites with accumulation of phosphorylated neurofilaments and abnormal organelles, reminiscent of Alzheimer-type plaques. Severe telencephalic damage and a synaptic-type fine granular immunoreactivity in laminar distribution in the cortex with anti-PrP after hydrated autoclaving of sections were seen only in the recent patient. In conclusion, factors in addition to the PRNP genotype at codons 102 and 129 must play a role in determining clinicopathological characteristics of this inherited brain amyloidosis.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 25/11/20 alle ore 17:01:47