Literature DB >> 12205650

Spontaneous mutations in the prion protein gene causing transmissible spongiform encephalopathy.

Ayush Dagvadorj1, Robert B Petersen, Hee Suk Lee, Larisa Cervenakova, Alexey Shatunov, Herbert Budka, Paul Brown, Pierluigi Gambetti, Lev G Goldfarb.   

Abstract

We analyzed the prion protein gene (PRNP) region in patients with transmissible spongiform encephalopathy associated with the PRNP D178N mutation. The results suggest that the D178N chromosomes had independent origins in each affected pedigree or apparently sporadic case. A de novo spontaneous PRNP mutation was observed. We provide evidence that hereditary and apparently sporadic transmissible spongiform encephalopathy cases associated with the D178N mutation result from multiple recurrent mutational events.

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Year:  2002        PMID： 12205650     DOI： 10.1002/ana.10267

Source DB:  PubMed          Journal:  Ann Neurol        ISSN： 0364-5134            Impact factor:   10.422


  11 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.  Global distribution of fatal familial insomnia: founder or recurrent mutations.

Authors:  H-S Lee; L G Goldfarb
Journal:  Neurogenetics       Date:  2008-06-21       Impact factor: 2.660

4.  Genetic prion disease: the EUROCJD experience.

Authors:  Gábor G Kovács; Maria Puopolo; Anna Ladogana; Maurizio Pocchiari; Herbert Budka; Cornelia van Duijn; Steven J Collins; Alison Boyd; Antonio Giulivi; Mike Coulthart; Nicole Delasnerie-Laupretre; Jean Philippe Brandel; Inga Zerr; Hans A Kretzschmar; Jesus de Pedro-Cuesta; Miguel Calero-Lara; Markus Glatzel; Adriano Aguzzi; Matthew Bishop; Richard Knight; Girma Belay; Robert Will; Eva Mitrova
Journal:  Hum Genet       Date:  2005-11-15       Impact factor: 4.132

5.  Ancestral origins of the prion protein gene D178N mutation in the Basque Country.

Authors:  Ana B Rodríguez-Martínez; Christian Barreau; Isabelle Coupry; Jordi Yagüe; Raquel Sánchez-Valle; Luis Galdós-Alcelay; Agustín Ibáñez; Antón Digón; Ignacio Fernández-Manchola; Cyril Goizet; Azucena Castro; Nerea Cuevas; Maite Alvarez-Alvarez; Marian M de Pancorbo; Benoît Arveiler; Juan J Zarranz
Journal:  Hum Genet       Date:  2005-04-02       Impact factor: 4.132

6.  Age at onset in genetic prion disease and the design of preventive clinical trials.

Authors:  Eric Vallabh Minikel; Sonia M Vallabh; Margaret C Orseth; Jean-Philippe Brandel; Stéphane Haïk; Jean-Louis Laplanche; Inga Zerr; Piero Parchi; Sabina Capellari; Jiri Safar; Janna Kenny; Jamie C Fong; Leonel T Takada; Claudia Ponto; Peter Hermann; Tobias Knipper; Christiane Stehmann; Tetsuyuki Kitamoto; Ryusuke Ae; Tsuyoshi Hamaguchi; Nobuo Sanjo; Tadashi Tsukamoto; Hidehiro Mizusawa; Steven J Collins; Roberto Chiesa; Ignazio Roiter; Jesús de Pedro-Cuesta; Miguel Calero; Michael D Geschwind; Masahito Yamada; Yosikazu Nakamura; Simon Mead
Journal:  Neurology       Date:  2019-06-06       Impact factor: 9.910

Review 7.  The expanding universe of prion diseases.

Authors:  Joel C Watts; Aru Balachandran; David Westaway
Journal:  PLoS Pathog       Date:  2006-03       Impact factor: 6.823

8.  Identification of Prion Disease-Related Somatic Mutations in the Prion Protein Gene (PRNP) in Cancer Patients.

Authors:  Yong-Chan Kim; Sae-Young Won; Byung-Hoon Jeong
Journal:  Cells       Date:  2020-06-17       Impact factor: 6.600

9.  Two different clinical phenotypes of Creutzfeldt-Jakob disease with a M232R substitution.

Authors:  Yusei Shiga; Katsuya Satoh; Tetsuyuki Kitamoto; Sigenori Kanno; Ichiro Nakashima; Shigeru Sato; Kazuo Fujihara; Hiroshi Takata; Keigo Nobukuni; Shigetoshi Kuroda; Hiroki Takano; Yoshitaka Umeda; Hidehiko Konno; Kunihiko Nagasato; Akira Satoh; Yoshito Matsuda; Mitsuru Hidaka; Hirokatsu Takahashi; Yasuteru Sano; Kang Kim; Takashi Konishi; Katsumi Doh-ura; Takeshi Sato; Kensuke Sasaki; Yoshikazu Nakamura; Masahito Yamada; Hidehiro Mizusawa; Yasuo Itoyama
Journal:  J Neurol       Date:  2007-11-02       Impact factor: 6.682

10.  Phenotypic heterogeneity and genetic modification of P102L inherited prion disease in an international series.

Authors:  T E F Webb; M Poulter; J Beck; J Uphill; G Adamson; T Campbell; J Linehan; C Powell; S Brandner; S Pal; D Siddique; J D Wadsworth; S Joiner; K Alner; C Petersen; S Hampson; C Rhymes; C Treacy; E Storey; M D Geschwind; A H Nemeth; S Wroe; J Collinge; S Mead
Journal:  Brain       Date:  2008-08-30       Impact factor: 13.501
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