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Article

Loss of glycosylation associated with the T183A mutation in human prion disease.

Acta neuropathologica - 1 Dec 2004

Grasbon-Frodl E, Lorenz Holger, Mann U, Nitsch R M, Windl Otto, Kretzschmar H A

Abstract excerpt

A heterozygous T183A mutation in the prion protein (PrP) gene, PRNP, was identified in a patient with histopathologically confirmed spongiform encephalopathy. Clinically, this form of prion disease was characterized by early-onset dementia as the predominant sign, along with global cerebral atrophy and hypometabolism. The age at onset was 40 years and the disease duration was 4 years. Additional neurological...

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Source

Identifiers

PMID: 15558291
DOI: 10.1007/s00401-004-0913-4

Genes

PRNP

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Loss of glycosylation associated with the T183A mutation in human prion disease.PMID 15558291Read ↗

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