Immunochemical, molecular genetic, and transmission studies on a case of Gerstmann-Sträussler-Scheinker syndrome

J Tateishi; T Kitamoto; K Doh-ura; Y Sakaki; G Steinmetz; C Tranchant; J M Warter; N Heldt

doi:10.1212/WNL.40.10.1578

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Immunochemical, molecular genetic, and transmission studies on a case of Gerstmann-Sträussler-Scheinker syndrome

Journal article

Peer reviewed

Immunochemical, molecular genetic, and transmission studies on a case of Gerstmann-Sträussler-Scheinker syndrome

J Tateishi, T Kitamoto, K Doh-ura, Y Sakaki, G Steinmetz, C Tranchant, J M Warter and N Heldt

Neurology, Vol.40(10), pp.1578-1581

10/1990

DOI: 10.1212/WNL.40.10.1578

PMID: 1699173

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Abstract

Using immunostaining with anti-prion protein (PrP) antiserum, we detected numerous kuru plaques in the brain of a 24-year-old man with Gerstmann-Sträussler-Scheinker syndrome. Immunoreactivity on Western blotting of the protease-resistant PrP fraction from the frozen brain was weak. PrP gene analysis showed substitution of alanine to valine in codon 117 but no substitution in codon 102. As the experimental transmission of the disease to mice was negative, a pathogen of a relatively low infectivity may cause the disease in predisposed family members.

Prions - metabolism

Gerstmann-Straussler-Scheinker Disease - metabolism

Prions - genetics

Molecular Biology

Genes

Humans

Viral Proteins - genetics

Male

Gerstmann-Straussler-Scheinker Disease - physiopathology

Gerstmann-Straussler-Scheinker Disease - transmission

Viral Proteins - metabolism

Blotting, Western

Immunohistochemistry - methods

PrPSc Proteins

Staining and Labeling

Alleles

Adult

Details

Title: Subtitle: Immunochemical, molecular genetic, and transmission studies on a case of Gerstmann-Sträussler-Scheinker syndrome
Creators: J Tateishi - Department of Neuropathology, Faculty of Medicine, Kyushu University, Fukuoka, Japan
T Kitamoto
K Doh-ura
Y Sakaki
G Steinmetz
C Tranchant
J M Warter
N Heldt
Resource Type: Journal article
Publication Details: Neurology, Vol.40(10), pp.1578-1581
Publisher: United States
DOI: 10.1212/WNL.40.10.1578
PMID: 1699173
ISSN: 0028-3878
eISSN: 1526-632X
Language: English
Date published: 10/1990
Academic Unit: Iowa Neuroscience Institute; Anesthesia; Neuroscience and Pharmacology
Record Identifier: 9984071606402771

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