Literature DB >> 15851747

Leukoencephalopathy with ataxia, hypodontia, and hypomyelination.

N I Wolf1, I Harting, E Boltshauser, G Wiegand, M J Koch, T Schmitt-Mechelke, E Martin, J Zschocke, B Uhlenberg, G F Hoffmann, L Weber, F Ebinger, D Rating.   

Abstract

The authors describe four unrelated girls with a distinctive neurologic disorder with early-onset progressive ataxia and hypodontia with a characteristic pattern of delayed dentition. Cerebral MRI shows hypomyelinated white matter and cerebellar atrophy; 1H-MRS of white matter reveals a marked elevation of myo-inositol.

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Year:  2005        PMID： 15851747     DOI： 10.1212/01.WNL.0000158615.56071.E3

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


  21 in total

1.  4H syndrome: a rare cause of leukodystrophy.

Authors:  Olivier Outteryck; David Devos; Patrice Jissendi; Odile Boespflug-Tanguy; Lucie Hopes; Dimitri Renard; Joël Ferri; Patrick Vermersch; Pierre Labauge
Journal:  J Neurol       Date:  2010-05-30       Impact factor: 4.849

2.  A whole-genome scan in a large family with leukodystrophy and oligodontia reveals linkage to 10q22.

Authors:  Eliane Chouery; Valérie Delague; Nadine Jalkh; Nabiha Salem; Jessy Kfoury; Diana Rodriguez; Brigitte Chabrol; Odile Boespflug-Tanguy; Nicolas Lévy; Jean Louis Serre; André Mégarbané
Journal:  Neurogenetics       Date:  2010-08-19       Impact factor: 2.660

3.  Tremor-ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3-10q23.31.

Authors:  Geneviève Bernard; Isabelle Thiffault; Martine Tetreault; Maria Lisa Putorti; Isabelle Bouchard; Michel Sylvain; Serge Melançon; Rachel Laframboise; Pierre Langevin; Jean-Pierre Bouchard; Michel Vanasse; Adeline Vanderver; Guillaume Sébire; Bernard Brais
Journal:  Neurogenetics       Date:  2010-07-17       Impact factor: 2.660

4.  Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.

Authors:  Nicole I Wolf; Adeline Vanderver; Rosalina M L van Spaendonk; Raphael Schiffmann; Bernard Brais; Marianna Bugiani; Erik Sistermans; Coriene Catsman-Berrevoets; Johan M Kros; Pedro Soares Pinto; Daniela Pohl; Sandya Tirupathi; Petter Strømme; Ton de Grauw; Sébastien Fribourg; Michelle Demos; Amy Pizzino; Sakkubai Naidu; Kether Guerrero; Marjo S van der Knaap; Geneviève Bernard
Journal:  Neurology       Date:  2014-10-22       Impact factor: 9.910

Review 5.  Hypogonadism and neurological diseases.

Authors:  Abdulaziz Alsemari
Journal:  Neurol Sci       Date:  2013-01-05       Impact factor: 3.307

6.  Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy.

Authors:  Martine Tétreault; Karine Choquet; Simona Orcesi; Davide Tonduti; Umberto Balottin; Martin Teichmann; Sébastien Fribourg; Raphael Schiffmann; Bernard Brais; Adeline Vanderver; Geneviève Bernard
Journal:  Am J Hum Genet       Date:  2011-10-27       Impact factor: 11.025

7.  Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy.

Authors:  Hirotomo Saitsu; Hitoshi Osaka; Masayuki Sasaki; Jun-Ichi Takanashi; Keisuke Hamada; Akio Yamashita; Hidehiro Shibayama; Masaaki Shiina; Yukiko Kondo; Kiyomi Nishiyama; Yoshinori Tsurusaki; Noriko Miyake; Hiroshi Doi; Kazuhiro Ogata; Ken Inoue; Naomichi Matsumoto
Journal:  Am J Hum Genet       Date:  2011-10-27       Impact factor: 11.025

8.  POLR3A variants in hereditary spastic paraplegia and ataxia.

Authors:  Laurence Gauquelin; Martine Tétreault; Isabelle Thiffault; Emily Farrow; Neil Miller; Byunggil Yoo; Eric Bareke; Grace Yoon; Oksana Suchowersky; Nicolas Dupré; Mark Tarnopolsky; Bernard Brais; Nicole I Wolf; Jacek Majewski; Guy A Rouleau; Ziv Gan-Or; Geneviève Bernard
Journal:  Brain       Date:  2018-01-01       Impact factor: 13.501

9.  Invited article: an MRI-based approach to the diagnosis of white matter disorders.

Authors:  Raphael Schiffmann; Marjo S van der Knaap
Journal:  Neurology       Date:  2009-02-24       Impact factor: 9.910

10.  Diffuse hypomyelination is not obligate for POLR3-related disorders.

Authors:  Roberta La Piana; Ferdy K Cayami; Luan T Tran; Kether Guerrero; Rosalina van Spaendonk; Katrin Õunap; Sander Pajusalu; Tobias Haack; Evangeline Wassmer; Dagmar Timmann; Hanna Mierzewska; Bwee T Poll-Thé; Chirag Patel; Helen Cox; Tahir Atik; Huseyin Onay; Ferda Ozkınay; Adeline Vanderver; Marjo S van der Knaap; Nicole I Wolf; Geneviève Bernard
Journal:  Neurology       Date:  2016-03-30       Impact factor: 9.910
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