PMID: 8937783Nov 1, 1996Paper

Polymorphism at codon 129 of the prion protein gene determines cerebellar pathology in Creutzfeldt-Jakob disease

Clinical Neuropathology
W Schulz-SchaefferH Kretzschmar

Abstract

Creutzfeldt-Jakob disease (CJD) is a transmissible neurodegenerative disorder characterized by the accumulation of proteinase-resistant prion protein (PrP) in the brain. Pathological changes in the cerebellum are common and include atrophy of the granular layer, spongiform change in the molecular layer, and astrocytic gliosis of the cerebellar cortex and white matter. In most cases of sporadic CJD immunohistochemistry for PrP shows widespread granular deposits of the scrapie isoform of the prion protein (PrPSc) in the cerebellar cortex. In a minority of cases plaque-like deposits of PrPSc are detectable. The genetic background of this phenomenon was investigated in 47 cases of sporadic CJD. Immunohistochemistry using antibodies against PrP was performed in brain autopsy specimens. A genetic analysis of the prion protein gene (PRNP) showed overrepresentation of homozygosity for either methionine (M/M) or valine (V/V) at the polymorphic codon 129 in CJD patients as compared to 74 controls. No significant difference in allele frequency between the 2 groups was found. Plaques or plaque-like PrPSc deposits were found in 9 cases of CJD and were associated with the presence of valine at codon 129 on at least 1 allele of PRNP. CJD pati...Continue Reading

Related Concepts

Related Feeds

Bovine Spongiform Encephalopathy

Bovine spongiform encephalopathy is a neurodegenerative disease belonging to the transmissible spongiform encephalopathies, a group of diseases including sheep scrapie and human Creutzfeldt-Jakob disease. Here is the latest research.

Bovine Spongiform Encephalopathy (MDS)

Bovine spongiform encephalopathy is a neurodegenerative disease belonging to the transmissible spongiform encephalopathies, a group of diseases including sheep scrapie and human Creutzfeldt-Jakob disease. Here is the latest research.

Astrocytes & Amyloid

Astrocytes are thought to play a role in amyloid production and have been implicated in neurodegenerative diseases such as Alzheimer’s disease. Here is the latest research on the relationship between astrocytes and amyloid.