✦ LIBER ✦

Mutation of thePRNP gene at codon 211 in familial Creutzfeldt-Jakob disease

✍ Scribed by Ladogana, A. ;Almonti, S. ;Petraroli, R. ;Giaccaglini, E. ;Ciarmatori, C. ;Li�, Q.G. ;Bevivino, S. ;Squitieri, F. ;Pocchiari, M.

Publisher: John Wiley and Sons
Year: 2001
Tongue: English
Weight: 94 KB
Volume: 103
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1511

No coin nor oath required. For personal study only.

✦ Synopsis

Creutzfeldt-Jakob disease (CJD) belongs to a group of chronic, progressive, neurodegenerative disorders that may be hereditary, infectious, or sporadic. Hereditary CJDs are associated with mutations in the PRNP gene on chromosome 20p12-pter. We report a family in which four patients developed classical clinical signs of CJD, including severe cognitive decline, cerebellar signs, myoclonic jerks, and synchronic periodic discharges on electroencephalogram. The E211Q mutation has been identified in family members, but not in 97 sporadic CJD patients referred to the Italian registry of CJD nor in 205 healthy normal subjects, suggesting a pathogenic role for this mutation.

📜 SIMILAR VOLUMES

Phenotypic characteristics of familial C

Phenotypic characteristics of familial Creutzfeldt-Jakob disease assoicated with the codon 178AsnPRNP mutation

✍ Dr Paul Brown; Lev G. Goldfarb; Jussi Kovanen; Mattie Haltia; Françoise Cathala; 📂 Article 📅 1992 🏛 John Wiley and Sons 🌐 English ⚖ 438 KB 👁 1 views

Identification of three novel mutations

Identification of three novel mutations (E196K, V203I, E211Q) in the prion protein gene (PRNP) in inherited prion diseases with Creutzfeldt-Jakob disease phenotype

✍ Katell Peoc'h; Philippe Manivet; Patrice Beaudry; Françoise Attane; Gérard Besso 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 49 KB 👁 1 views

Inherited prion diseases are characterized by mutations in the PRNP gene encoding the prion protein (PrP). As the other sporadic or infectious prion disease forms, they are almost all characterized by the accumulation in the brain of an abnormal misfolded form of the patient's PrP. Brain extracts ca

New frameshift mutation, insertion of A,

New frameshift mutation, insertion of A, at codon 95 of the β-globin gene causes β-thalassemia in two Vietnamese families

✍ Shiping Cai; Farid F. Chehab 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 177 KB

Missense mutation in exon 11 (codon 378)

Missense mutation in exon 11 (codon 378) of the presenilin-1 gene in a French family with early-onset Alzheimer's disease and transmission study by mismatch enhanced allele specific amplification

✍ Roger Besançon; Alberta Lorenzi; Marc Cruts; Sandrine Radawiec; Franck Sturtz; E 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 69 KB 👁 2 views

Mutations in the presenilin-1 (PS1) gene account for the majority of familial early-onset Alzheimer's disease (EOAD) cases. We screened the coding part of the PS1 gene for the presence of mutations in a French family with EOAD, using single strand conformation polymorphism (SSCP) analysis. Patients