Inherited prion disease.
نویسندگان
چکیده
منابع مشابه
Inherited prion disease with A117V mutation of the prion protein gene: a novel Hungarian family.
Three members of a family with inherited prion disease are reported. One additional family member had a progressive neurological disease without details. Two developed symptoms of ataxia, dementia, myoclonus, rigidity, and hemiparesis, and one had a different phenotype with the combination of lower motor neuron deficit, parkinsonism, intellectual decline, and ataxia. In this last patient cell l...
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Phosphorus (P), in the form of phosphate ion (Pi), is a vital element contributing in biomolecule structures, metabolic reactions, signaling pathways and energy transfer within the living cells. The objective of the present study was to assess the influence of fungal infection on Pi metabolism in compare to the effects of phosphate stress in Arabidopsis. Quantification of total P contents showe...
متن کاملInherited prion disease with an alanine to valine mutation at codon 117 in the prion protein gene.
A large English family with autosomal dominant segregation of presenile dementia, ataxia and other neuropsychiatric features is described. Diagnoses of demyelinating disease, Alzheimer's disease, Creutzfeldt-Jakob disease (CJD) and Gerstmann-Sträussler-Scheinker syndrome have been attributed to particular individuals at different times. An Irish family, likely to be part of the same kindred, is...
متن کاملInherited Prion Disease A117V Is Not Simply a Proteinopathy but Produces Prions Transmissible to Transgenic Mice Expressing Homologous Prion Protein
Prions are infectious agents causing fatal neurodegenerative diseases of humans and animals. In humans, these have sporadic, acquired and inherited aetiologies. The inherited prion diseases are caused by one of over 30 coding mutations in the human prion protein (PrP) gene (PRNP) and many of these generate infectious prions as evidenced by their experimental transmissibility by inoculation to l...
متن کاملInherited prion disease (PrP lysine 200) in Britain: two case reports.
OBJECTIVE To identify cases of inherited prion diseases in Britain and to assess their phenotypic features. DESIGN Screening study of patients suspected clinically to have Creutzfeldt-Jakob disease and other neurodegenerative diseases by prion protein gene analysis. SETTING Biochemical research department. SUBJECTS Patients suspected to have Creutzfeldt-Jakob disease and other neurodegene...
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ژورنال
عنوان ژورنال: BMJ
سال: 1993
ISSN: 0959-8138,1468-5833
DOI: 10.1136/bmj.306.6880.795