Literature DB >> 33454496

Early sensory disturbances and seizures are common manifestations of familial Creutzfeldt-Jakob disease due to E200K PRNP mutation: Case report from two Peruvian families.

Elison Sarapura-Castro1, Carlos Cosentino2, Jonathan Landman3, Avi Landman4, Luis Torres2, Yesenia Nuñez5, Sabina Capellari6, Piero Parchi7, Mario Cornejo-Olivas8.   

Abstract

Entities:  

Keywords:  Creutzfeldt-Jakob disease; Dementia; Genetics; Seizure; Sensory disturbance

Mesh：

Substances：

Year:  2021        PMID： 33454496      PMCID： PMC8023671          DOI： 10.1016/j.clineuro.2021.106490

Source DB:  PubMed          Journal:  Clin Neurol Neurosurg        ISSN： 0303-8467            Impact factor:   1.876


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  10 in total

Review 1.  Familial Creutzfeldt-Jakob disease. Codon 200 prion disease in Libyan Jews.

Authors:  Z Meiner; R Gabizon; S B Prusiner
Journal:  Medicine (Baltimore)       Date:  1997-07       Impact factor: 1.889

2.  Clinical findings and diagnosis in genetic prion diseases in Germany.

Authors:  Anna Krasnianski; Uta Heinemann; Claudia Ponto; Jasmine Kortt; Kai Kallenberg; Daniela Varges; Walter J Schulz-Schaeffer; Hans A Kretzschmar; Inga Zerr
Journal:  Eur J Epidemiol       Date:  2015-06-16       Impact factor: 8.082

3.  Seizures in E200K familial and sporadic Creutzfeldt-Jakob disease.

Authors:  S Appel; J Chapman; O S Cohen; H Rosenmann; Z Nitsan; I Blatt
Journal:  Acta Neurol Scand       Date:  2014-10-16       Impact factor: 3.209

4.  Ancestral origins and worldwide distribution of the PRNP 200K mutation causing familial Creutzfeldt-Jakob disease.

Authors:  H S Lee; N Sambuughin; L Cervenakova; J Chapman; M Pocchiari; S Litvak; H Y Qi; H Budka; T del Ser; H Furukawa; P Brown; D C Gajdusek; J C Long; A D Korczyn; L G Goldfarb
Journal:  Am J Hum Genet       Date:  1999-04       Impact factor: 11.025

5.  The phenotypic expression of different mutations in transmissible familial Creutzfeldt-Jakob disease.

Authors:  P Brown; L G Goldfarb; C J Gibbs; D C Gajdusek
Journal:  Eur J Epidemiol       Date:  1991-09       Impact factor: 8.082

6.  Prion-related peripheral neuropathy in sporadic Creutzfeldt-Jakob disease.

Authors:  Simone Baiardi; Veronica Redaelli; Paolo Ripellino; Marcello Rossi; Alessia Franceschini; Maurizio Moggio; Patrizia Sola; Anna Ladogana; Paolo Fociani; Anna Magherini; Sabina Capellari; Armin Giese; Byron Caughey; Paola Caroppo; Piero Parchi
Journal:  J Neurol Neurosurg Psychiatry       Date:  2018-10-24       Impact factor: 10.154

Review 7.  Genetic prion disease: Experience of a rapidly progressive dementia center in the United States and a review of the literature.

Authors:  Leonel T Takada; Mee-Ohk Kim; Ross W Cleveland; Katherine Wong; Sven A Forner; Ignacio Illán Gala; Jamie C Fong; Michael D Geschwind
Journal:  Am J Med Genet B Neuropsychiatr Genet       Date:  2017-01       Impact factor: 3.568

8.  Clinical heterogeneity and unusual presentations of Creutzfeldt-Jakob disease in Jewish patients with the PRNP codon 200 mutation.

Authors:  J Chapman; P Brown; L G Goldfarb; A Arlazoroff; D C Gajdusek; A D Korczyn
Journal:  J Neurol Neurosurg Psychiatry       Date:  1993-10       Impact factor: 10.154

9.  Clinical aspects of common genetic Creutzfeldt-Jakob disease.

Authors:  Gabi Schelzke; Hans A Kretzschmar; Inga Zerr
Journal:  Eur J Epidemiol       Date:  2012-03-02       Impact factor: 8.082

10.  Prion-specific and surrogate CSF biomarkers in Creutzfeldt-Jakob disease: diagnostic accuracy in relation to molecular subtypes and analysis of neuropathological correlates of p-tau and Aβ42 levels.

Authors:  Francesca Lattanzio; Samir Abu-Rumeileh; Alessia Franceschini; Hideaki Kai; Giulia Amore; Ilaria Poggiolini; Marcello Rossi; Simone Baiardi; Lynne McGuire; Anna Ladogana; Maurizio Pocchiari; Alison Green; Sabina Capellari; Piero Parchi
Journal:  Acta Neuropathol       Date:  2017-02-15       Impact factor: 17.088
  10 in total

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