Creutzfeldt-Jakob disease with codon 129 polymorphism (Valine): a comparative study of patients with codon 102 point mutation or without mutations

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ID: 118945
1970
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Abstract
We examined 7 patients with Creutzfeldt-Jakob disease (CJD) with a methionine-to-valine change at prion protein (PrP) codon 129 (CJD129 patients). These CJD129 patients did not have either a condon 117 or 198 point mutation. For comparison, we also examined 7 patients with Gerstmann-Sträussler syndrome (GSS) with a proline-to-leucine change at PrP codon 102 (GSS102 patients) and 13 patients without any known mutations at codons 102, 117, 129, 178, or 200 (CJDwild patients). CJD129 patients had a long clinical duration and ataxia at onset, but rarely had any periodic synchronous discharge in their electroencephalogram. Unlike CJDwild patients, all CJD129 patients have typical congophilic PrP plaques in their brain. These clinicopathological findings were similar to those of GSS102. However, the distribution and morphology of PrP deposits revealed by immunohistochemistry were different between CJD129 and GSS102. In GSS102 more numerous and various types of PrP plaques are seen throughout the brain, while in CJD129 patients a unicentric core was the major feature of PrP plaques. The change in codon 129 influences the clinical course and pathological findings in CJD.
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miyazono1970actacreutzfeldt-jakob Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors M. Miyazono;T. Kitamoto;K. Doh-ura;T. Iwaki;J. Tateishi;M. Miyazono;T. Kitamoto;K. Doh-ura;T. Iwaki;J. Tateishi;
Journal acta neuropathologica
Year 1970
DOI
doi:10.1007/BF00227660
URL
https://link.springer.com/article/10.1007/BF00227660
Keywords
pathology neurosciences

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