Literature DB >> 17190954

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

P N Valdmanis1, D Brunet, J St-Onge, L Weston, G A Rouleau, N Dupré.   

Abstract

We present phenotypic and genotypic data for an additional family with autosomal dominant sensory ataxia, a disease characterized by gait difficulties associated with diminished sensation in the limbs and areflexia. The same disease haplotype spanning the entire SNAX1 locus is observed in affected members of this second family, enabling the locus to be reduced to a 7.3-cM interval.

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Year:  2006        PMID： 17190954     DOI： 10.1212/01.wnl.0000249314.96183.48

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  4 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

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

Authors:  Andrea Cortese; Ilaria Callegari; Riccardo Currò; Elisa Vegezzi; Silvia Colnaghi; Maurizio Versino; Enrico Alfonsi; Giuseppe Cosentino; Enzamaria Valente; Simone Gana; Cristina Tassorelli; Anna Pichiecchio; Alexander M Rossor; Enrico Bugiardini; Antonio Biroli; Daniela Di Capua; Henry Houlden; Mary M Reilly
Journal:  J Neurol Neurosurg Psychiatry       Date:  2020-09-17       Impact factor: 10.154

3.  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

4.  Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway.

Authors:  Gregory M Enns; Vandana Shashi; Matthew Bainbridge; Michael J Gambello; Farah R Zahir; Thomas Bast; Rebecca Crimian; Kelly Schoch; Julia Platt; Rachel Cox; Jonathan A Bernstein; Mena Scavina; Rhonda S Walter; Audrey Bibb; Melanie Jones; Madhuri Hegde; Brett H Graham; Anna C Need; Angelica Oviedo; Christian P Schaaf; Sean Boyle; Atul J Butte; Rui Chen; Rong Chen; Michael J Clark; Rajini Haraksingh; Tina M Cowan; Ping He; Sylvie Langlois; Huda Y Zoghbi; Michael Snyder; Richard A Gibbs; Hudson H Freeze; David B Goldstein
Journal:  Genet Med       Date:  2014-03-20       Impact factor: 8.822
  4 in total

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