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Literature DB >> 10787305

Familial Creutzfeldt-Jakob disease with D178N-129M mutation of PRNP presenting as cerebellar ataxia without insomnia.

Y Taniwaki, H Hara, K Doh-Ura, I Murakami, H Tashiro, T Yamasaki, H Shigeto, K Arakawa, E Araki, T Yamada, T Iwaki, J Kira.

Abstract

Entities: Disease Gene Mutation

Mesh：

Substances：

Year: 2000 PMID： 10787305 PMCID： PMC1736844 DOI： 10.1136/jnnp.68.3.388

Source DB: PubMed Journal: J Neurol Neurosurg Psychiatry ISSN： 0022-3050 Impact factor: 10.154

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8 in total

Review 1. Genetic PrP Prion Diseases.

Authors: Mee-Ohk Kim; Leonel T Takada; Katherine Wong; Sven A Forner; Michael D Geschwind
Journal: Cold Spring Harb Perspect Biol Date: 2018-05-01 Impact factor: 10.005

2. Molecular evidence of founder effects of fatal familial insomnia through SNP haplotypes around the D178N mutation.

Authors: Ana B Rodríguez-Martínez; Miguel A Alfonso-Sánchez; José A Peña; Raquel Sánchez-Valle; Inga Zerr; Sabina Capellari; Miguel Calero; Juan J Zarranz; Marian M de Pancorbo
Journal: Neurogenetics Date: 2008-03-18 Impact factor: 2.660

3. Familial fatal insomnia with atypical clinical features in a patient with D178N mutation and homozygosity for Met at codon 129 of the prion protein gene.

Authors: Lin Sun; Xia Li; Xiang Lin; Feng Yan; Kathryn Chen; Shifu Xiao
Journal: Prion Date: 2015 Impact factor: 3.931

4. Phenotypic variability in familial prion diseases due to the D178N mutation.

Authors: J J Zarranz; A Digon; B Atarés; A B Rodríguez-Martínez; A Arce; N Carrera; I Fernández-Manchola; M Fernández-Martínez; C Fernández-Maiztegui; I Forcadas; L Galdos; J C Gómez-Esteban; A Ibáñez; E Lezcano; A López de Munain; J F Martí-Massó; M M Mendibe; M Urtasun; J M Uterga; N Saracibar; F Velasco; M M de Pancorbo
Journal: J Neurol Neurosurg Psychiatry Date: 2005-11 Impact factor: 10.154

5. Transgenic fatal familial insomnia mice indicate prion infectivity-independent mechanisms of pathogenesis and phenotypic expression of disease.

Authors: Ihssane Bouybayoune; Susanna Mantovani; Federico Del Gallo; Ilaria Bertani; Elena Restelli; Liliana Comerio; Laura Tapella; Francesca Baracchi; Natalia Fernández-Borges; Michela Mangieri; Cinzia Bisighini; Galina V Beznoussenko; Alessandra Paladini; Claudia Balducci; Edoardo Micotti; Gianluigi Forloni; Joaquín Castilla; Fabio Fiordaliso; Fabrizio Tagliavini; Luca Imeri; Roberto Chiesa
Journal: PLoS Pathog Date: 2015-04-16 Impact factor: 6.823

Familial Creutzfeldt-Jakob disease with D178N-129M mutation of PRNP presenting as cerebellar ataxia without insomnia.

Review 1. Genetic PrP Prion Diseases.

2. Molecular evidence of founder effects of fatal familial insomnia through SNP haplotypes around the D178N mutation.

3. Familial fatal insomnia with atypical clinical features in a patient with D178N mutation and homozygosity for Met at codon 129 of the prion protein gene.

4. Phenotypic variability in familial prion diseases due to the D178N mutation.

5. Transgenic fatal familial insomnia mice indicate prion infectivity-independent mechanisms of pathogenesis and phenotypic expression of disease.

6. Corticobasal manifestations of Creutzfeldt-Jakob disease with D178N-homozygous 129M genotype.

7. Mutations at codons 178, 200-129, and 232 contributed to the inherited prion diseases in Korean patients.

8. A case of dementia with PRNP D178Ncis-129M and no insomnia.