Clinical Medicine Journal
Articles Information
Clinical Medicine Journal, Vol.1, No.3, Aug. 2015, Pub. Date: Jun. 8, 2015
The First Case of Genetic Creutzfeldt-Jakob Disease with the Rare Mutation R208H, Methionine/ Valine Heterozygous at Codon 129 of the Prion Protein Gene
Pages: 101-105 Views: 1024 Downloads: 752
Authors
[01] Mitrova Eva, Slovak Medical University Bratislava, Institute of Microbiology, Department of prion diseases, Bratislava, Slovakia.
[02] Belay Girma, Slovak Medical University Bratislava, Institute of Microbiology, Department of prion diseases, Bratislava, Slovakia.
[03] Slivarichova – Zakova Dana, Slovak Medical University Bratislava, Institute of Microbiology, Department of prion diseases, Bratislava, Slovakia.
[04] Stelzer Martin, Slovak Medical University Bratislava, Institute of Microbiology, Department of prion diseases, Bratislava, Slovakia.
Abstract
The first case of Creutzfeldt-Jakob disease, methionine / valine heterozygous at codon 129 with a rare mutation at codon 208 (mutation R208H) of the prion protein gene is presented. Comparison to previously described patients with the same mutation R208H, but methionine or valine homozygous at codon 129 was performed. It revealed similarity in the duration of clinical manifestation, in histopatological lesions and in negative family history, Heterozygosity in codon 129 was characterized by similar clinical symptoms as described in 129MM cases, with dominant psychiatric symptomatology also in prodromal phase, by slightly higher age at death and markedly prolonged prodromal stage of the disease.
Keywords
Creutzfeldt-Jakob Disease, Duration, Mutation R208H, Polymorphism M129V
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