Inherited prion disease with 4-octapeptide repeat insertion linked to valine at codon 129.
نویسندگان
چکیده
1 CJD Unit, Department of Neurology, Hospital Clı́nic, 08036 Barcelona, Spain 2 Alzheimer’s Disease and Other Cognitive Disorders Unit, Department of Neurology, Hospital Clı́nic, 08036 Barcelona, Spain 3 Immunology Department, Hospital Clı́nic, 08036 Barcelona, Spain 4 Memory and Dementia Unit, Hospital Santa Caterina, Institut d’Assistència Sanitària, 17190 Girona, Spain 5 CJD Surveillance Unit, Health Department, Generalitat de Catalunya, 08005 Barcelona, Spain 6 Neurological Tissue Bank of the Biobanc-Hospital, Clı́nic-IDIBAPS, 08036 Barcelona, Spain 7 Institut de Neuropatologı́a, IDIBELL, Hospital Universitari de Bellvitge, University of Barcelona, 08907 Barcelona, Spain
منابع مشابه
Inherited prion disease with 4-octapeptide repeat insertion: disease requires the interaction of multiple genetic risk factors.
Genetic factors are implicated in the aetiology of sporadic late-onset neurodegenerative diseases. Whether these genetic variants are predominantly common or rare, and how multiple genetic factors interact with each other to cause disease is poorly understood. Inherited prion diseases are highly heterogeneous and may be clinically mistaken for sporadic Creutzfeldt-Jakob disease because of a neg...
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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...
متن کاملCodon 129 polymorphism of prion protein gene in is not a risk factor for Alzheimer's disease.
UNLABELLED Interaction of prion protein and amyloid-b oligomers has been demonstrated recently. Homozygosity at prion protein gene (PRNP) codon 129 is associated with higher risk for Creutzfeldt-Jakob disease. This polymorphism has been addressed as a possible risk factor in Alzheimer disease (AD). OBJECTIVE To describe the association between codon 129 polymorphisms and AD. METHODS We inve...
متن کاملVariant Creutzfeldt-Jakob disease: prion protein genotype analysis of positive appendix tissue samples from a retrospective prevalence study.
OBJECTIVE To perform prion protein gene (PRNP) codon 129 analysis in DNA extracted from appendix tissue samples that had tested positive for disease associated prion protein. DESIGN Reanalysis of positive cases identified in a retrospective anonymised unlinked prevalence study of variant Creutzfeldt-Jakob disease (vCJD) in the United Kingdom. STUDY SAMPLES Three positive appendix tissue sam...
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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ورودعنوان ژورنال:
- Brain : a journal of neurology
دوره 135 Pt 4 شماره
صفحات -
تاریخ انتشار 2012