Literature DB >> 32943585

Mutation in RNF170 causes sensory ataxic neuropathy with vestibular areflexia: a CANVAS mimic.

Andrea Cortese1,2, Ilaria Callegari3,4, Riccardo Currò3,4, Elisa Vegezzi3,4, Silvia Colnaghi4, Maurizio Versino5, Enrico Alfonsi4, Giuseppe Cosentino3,4, Enzamaria Valente3,4, Simone Gana4, Cristina Tassorelli3,4, Anna Pichiecchio3,4, Alexander M Rossor2, Enrico Bugiardini2, Antonio Biroli6, Daniela Di Capua7, Henry Houlden2, Mary M Reilly2.   

Abstract

Entities:  

Keywords:  cerebellar ataxia; neurogenetics; neuropathy

Mesh：

Substances：

Year:  2020        PMID： 32943585      PMCID： PMC8311668          DOI： 10.1136/jnnp-2020-323719

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


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  10 in total

1.  A novel neurodegenerative disease characterised by posterior column ataxia and pyramidal tract involvement maps to chromosome 8p12-8q12.1.

Authors:  P N Valdmanis; A A Simões Lopes; F Gros-Louis; J D Stewart; G A Rouleau; N Dupré
Journal:  J Med Genet       Date:  2004-08       Impact factor: 6.318

2.  A founder haplotype for autosomal dominant sensory ataxia in Eastern Canada.

Authors:  P N Valdmanis; D Brunet; J St-Onge; L Weston; G A Rouleau; N Dupré
Journal:  Neurology       Date:  2006-12-26       Impact factor: 9.910

3.  Age-dependent gait abnormalities in mice lacking the Rnf170 gene linked to human autosomal-dominant sensory ataxia.

Authors:  Youngsoo Kim; Seong Hun Kim; Kook Hwan Kim; Sujin Chae; Chanki Kim; Jeongjin Kim; Hee-Sup Shin; Myung-Shik Lee; Daesoo Kim
Journal:  Hum Mol Genet       Date:  2015-10-03       Impact factor: 6.150

Review 4.  Sensory neuronopathies.

Authors:  Kelly Graham Gwathmey
Journal:  Muscle Nerve       Date:  2015-11-23       Impact factor: 3.217

Review 5.  Sensory neuron diseases.

Authors:  Angelo Sghirlanzoni; Davide Pareyson; Giuseppe Lauria
Journal:  Lancet Neurol       Date:  2005-06       Impact factor: 44.182

6.  A mutation in the RNF170 gene causes autosomal dominant sensory ataxia.

Authors:  Paul N Valdmanis; Nicolas Dupré; Mathieu Lachance; Shawn J Stochmanski; Veronique V Belzil; Patrick A Dion; Isabelle Thiffault; Bernard Brais; Lyle Weston; Louis Saint-Amant; Mark E Samuels; Guy A Rouleau
Journal:  Brain       Date:  2010-11-28       Impact factor: 13.501

7.  A Point Mutation in the Ubiquitin Ligase RNF170 That Causes Autosomal Dominant Sensory Ataxia Destabilizes the Protein and Impairs Inositol 1,4,5-Trisphosphate Receptor-mediated Ca2+ Signaling.

Authors:  Forrest A Wright; Justine P Lu; Danielle A Sliter; Nicolas Dupré; Guy A Rouleau; Richard J H Wojcikiewicz
Journal:  J Biol Chem       Date:  2015-04-16       Impact factor: 5.157

8.  Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia.

Authors:  Roisin Sullivan; Jana Vandrovcova; Mary M Reilly; Andrea Cortese; Roberto Simone; Huma Tariq; Wai Yan Yau; Jack Humphrey; Zane Jaunmuktane; Prasanth Sivakumar; James Polke; Muhammad Ilyas; Eloise Tribollet; Pedro J Tomaselli; Grazia Devigili; Ilaria Callegari; Maurizio Versino; Vincenzo Salpietro; Stephanie Efthymiou; Diego Kaski; Nick W Wood; Nadja S Andrade; Elena Buglo; Adriana Rebelo; Alexander M Rossor; Adolfo Bronstein; Pietro Fratta; Wilson J Marques; Stephan Züchner; Henry Houlden
Journal:  Nat Genet       Date:  2019-03-29       Impact factor: 38.330

9.  Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia.

Authors:  Matias Wagner; Daniel P S Osborn; Ina Gehweiler; Maike Nagel; Ulrike Ulmer; Somayeh Bakhtiari; Rim Amouri; Reza Boostani; Faycal Hentati; Maryam M Hockley; Benedikt Hölbling; Thomas Schwarzmayr; Ehsan Ghayoor Karimiani; Christoph Kernstock; Reza Maroofian; Wolfgang Müller-Felber; Ege Ozkan; Sergio Padilla-Lopez; Selina Reich; Jennifer Reichbauer; Hossein Darvish; Neda Shahmohammadibeni; Abbas Tafakhori; Katharina Vill; Stephan Zuchner; Michael C Kruer; Juliane Winkelmann; Yalda Jamshidi; Rebecca Schüle
Journal:  Nat Commun       Date:  2019-10-21       Impact factor: 14.919

10.  Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion.

Authors:  Andrea Cortese; Stefano Tozza; Wai Yan Yau; Salvatore Rossi; Sarah J Beecroft; Zane Jaunmuktane; Zoe Dyer; Gianina Ravenscroft; Phillipa J Lamont; Stuart Mossman; Andrew Chancellor; Thierry Maisonobe; Yann Pereon; Cecile Cauquil; Silvia Colnaghi; Giulia Mallucci; Riccardo Curro; Pedro J Tomaselli; Gilbert Thomas-Black; Roisin Sullivan; Stephanie Efthymiou; Alexander M Rossor; Matilde Laurá; Menelaos Pipis; Alejandro Horga; James Polke; Diego Kaski; Rita Horvath; Patrick F Chinnery; Wilson Marques; Cristina Tassorelli; Grazia Devigili; Lea Leonardis; Nick W Wood; Adolfo Bronstein; Paola Giunti; Stephan Züchner; Tanya Stojkovic; Nigel Laing; Richard H Roxburgh; Henry Houlden; Mary M Reilly
Journal:  Brain       Date:  2020-02-01       Impact factor: 15.255
  10 in total
  3 in total

1.  RNF170 mutation causes autosomal dominant sensory ataxia with variable pyramidal involvement.

Authors:  Sien H Van Daele; Matthieu Moisse; Valérie Race; Amélie Van Eesbeeck; Liesbeth Keldermans; Sascha Vermeer; Hilde Van Esch; Kristl G Claeys; Philip Van Damme
Journal:  Eur J Neurol       Date:  2021-09-17       Impact factor: 6.288

Review 2.  Challenges and Controversies in the Genetic Diagnosis of Hereditary Spastic Paraplegia.

Authors:  Lydia Saputra; Kishore Raj Kumar
Journal:  Curr Neurol Neurosci Rep       Date:  2021-02-28       Impact factor: 5.081

3.  Genetic Workup for Charcot-Marie-Tooth Neuropathy: A Retrospective Single-Site Experience Covering 15 Years.

Authors:  Chiara Gemelli; Alessandro Geroldi; Sara Massucco; Lucia Trevisan; Ilaria Callegari; Lucio Marinelli; Giulia Ursino; Mehrnaz Hamedani; Giulia Mennella; Silvia Stara; Giovanni Maggi; Laura Mori; Cristina Schenone; Fabio Gotta; Serena Patrone; Alessia Mammi; Paola Origone; Valeria Prada; Lucilla Nobbio; Paola Mandich; Angelo Schenone; Emilia Bellone; Marina Grandis
Journal:  Life (Basel)       Date:  2022-03-10
  3 in total

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