Short reportA Japanese case of Creutzfeldt-Jakob disease with a point mutation in the prion protein gene at codon 210
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Cited by (23)
Genetic Creutzfeldt–Jakob disease
2018, Handbook of Clinical NeurologyCitation Excerpt :The valine (V) to isoleucine (I) substitution at codon 210 (V210I) was first identified in a CJD family from Italy (Pocchiari et al., 1993) and one from France (Ripoll et al., 1993). Then, single cases were reported in Japan, China (Furukawa et al., 1996; Shyu et al., 1996), North Africa (Mouillet-Richard et al., 1999), Brazil (Huang et al., 2001), and other European and non-European countries (Kovacs et al., 2005b; Takada et al., 2017). Its frequency, however, varies among countries.
Toward the molecular basis of inherited prion diseases: NMR structure of the human prion protein with v210i mutation
2011, Journal of Molecular BiologyCitation Excerpt :The hallmarks of this fCJD include—clinically—dementia, ataxia and myoclonus and—pathologically—spongiosis, neuronal loss and astrogliosis. This mutation was initially described in two families, Italian52 and French,54 and later in many countries worldwide.55–62 CJD surveillance programs established high incidence of the V210I mutation in the European population.50,53,63,64
Pathogenic Mutations in the Hydrophobic Core of the Human Prion Protein Can Promote Structural Instability and Misfolding
2010, Journal of Molecular BiologyCitation Excerpt :The T183A and F198S mutations are linked to slow disease progression compared with sporadic CJD (average durations are 49 and 75 months for T183A and F198S, respectively, and three to six months for sporadic CJD) and an unusually high occurrence of extrapyramidal symptoms.2 In contrast, disease duration and symptoms in patients carrying the V210I mutation are very similar to typical cases of sporadic CJD.22,45–47 The rarely found V203I mutation caused relatively subtle effects on recPrP dynamics and conformation in this study, mostly similar to those found with V210I.
Hereditary Creutzfeldt-Jakob disease and fatal familial insomnia
2003, Clinics in Laboratory MedicineMutation at codon 210 (V210I) of the prion protein gene in a North African patient with Creutzfeldt-Jakob disease
1999, Journal of the Neurological SciencesChapter 5 Human Prion Diseases
1999, Advances in Cell Aging and Gerontology