NR ABVL
AU Brown,P.; Goldfarb,L.G.; Brown,W.T.; Goldgaber,D.; Rubenstein,R.; Kascsak,R.J.; Guiroy,D.C.; Piccardo,P.; Boellaard,J.W.; Gajdusek,D.C.
TI Clinical and molecular genetic study of a large German kindred with Gerstmann-Sträussler-Scheinker syndrome
QU Neurology 1991 Mar; 41(3): 375-9
PT journal article
AB We have verified, by full open reading frame sequencing, the presence of an amino-acid-altering mutation in codon 102 of the scrapie amyloid protein gene in three affected members of a large and well-documented German family with experimentally transmitted Gerstmann-Sträussler-Scheinker syndrome. In addition, we identified the mutation by partial sequencing or DNA restriction enzyme analysis in three of 12 presently healthy family members with an affected parent, and none of 12 members without an affected parent. Thus, a total of six of 15 family members at risk for the disease (including the three established cases) had the same codon 102 mutation, a proportion consistent with the autosomal dominant inheritance pattern of disease expression. It is undetermined whether the mutation influences susceptibility to infection by an exogenous agent or is itself a proximate cause of disease.
IN Bei Patienten mit dem Gerstmann-Sträussler-Scheinker Syndrom und einigen ihrer (noch) gesunden Kinder wurde im Scrapie-Amyloid-Protein ein Aminosäureaustausch an der Position 102 identifiziert. Diese Mutation könnte die Krankheit auslösen oder nur eine erbliche Disposition für eine Erkrankung bewirken.
MH Adult; Brain/metabolism/pathology; Case Report; Female; Gerstmann-Sträussler-Scheinker Disease/*genetics/metabolism/pathology; Human; Immunohistochemistry; Male; Middle Age; Molecular Biology; Mutation; Open Reading Frames; Pedigree; Polymorphism, Restriction Fragment Length; PrPc Proteins; Protein Precursors/genetics/metabolism; Viral Proteins/genetics/metabolism
AD Paul Brown (pwb@codon.nih.gov), Laboratory of Central Nervous System Studies, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA
SP englisch
PO USA