title: Clinical and molecular genetic study of a large German kindred with Gerstmann-Sträussler-Scheinker syndrome.
abstract: 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.
authors.affiliation: Laboratory of CNS Studies, NINDS, National Institutes of Health, Bethesda, MD 20892.
authors.forename: P
authors.initials: P
authors.lastname: Brown
authors.forename: L G
authors.initials: LG
authors.lastname: Goldfarb
authors.forename: W T
authors.initials: WT
authors.lastname: Brown
authors.forename: D
authors.initials: D
authors.lastname: Goldgaber
authors.forename: R
authors.initials: R
authors.lastname: Rubenstein
authors.forename: R J
authors.initials: RJ
authors.lastname: Kascsak
authors.forename: D C
authors.initials: DC
authors.lastname: Guiroy
authors.forename: P
authors.initials: P
authors.lastname: Piccardo
authors.forename: J W
authors.initials: JW
authors.lastname: Boellaard
authors.forename: D C
authors.initials: DC
authors.lastname: Gajdusek
mesh_terms: D000328:Adult; D001921:Brain / Q000378:metabolism / Q000473:pathology; D005260:Female; D016098:Gerstmann-Straussler-Scheinker Disease / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D008875:Middle Aged; D008967:Molecular Biology; D009154:Mutation; D016366:Open Reading Frames; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D018621:PrPC Proteins; D011498:Protein Precursors / Q000235:genetics / Q000378:metabolism; D014764:Viral Proteins / Q000235:genetics / Q000378:metabolism
chemical_list: D018621:PrPC Proteins; D011498:Protein Precursors; D014764:Viral Proteins