Literature DB >> 19700253

Hypomyelination, hypogonadotropic hypogonadism, hypodontia - First Polish patient.

Monika Bekiesinska-Figatowska1, Hanna Mierzewska, Arleta Kuczynska-Zardzewialy, Elzbieta Szczepanik, Ewa Obersztyn.   

Abstract

The term 4H was suggested for the rare, novel entity with hypomyelination, hypogonadotropic hypogonadism and hypodontia. A combination of clinical findings with ataxia and endocrinological abnormalities, brain MRI and dentition history are crucial for the diagnosis. We present the first Polish patient with this disease with repeated brain MRI, MRI of the pituitary gland and orthopantomogram. Copyright 2009 Elsevier B.V. All rights reserved.

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Year:  2009        PMID: 19700253     DOI: 10.1016/j.braindev.2009.07.008

Source DB:  PubMed          Journal:  Brain Dev        ISSN: 0387-7604            Impact factor:   1.961


  9 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.  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

3.  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

4.  Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy.

Authors:  Geneviève Bernard; Eliane Chouery; Maria Lisa Putorti; Martine Tétreault; Asako Takanohashi; Giovanni Carosso; Isabelle Clément; Odile Boespflug-Tanguy; Diana Rodriguez; Valérie Delague; Joelle Abou Ghoch; Nadine Jalkh; Imen Dorboz; Sebastien Fribourg; Martin Teichmann; André Megarbane; Raphael Schiffmann; Adeline Vanderver; Bernard Brais
Journal:  Am J Hum Genet       Date:  2011-09-09       Impact factor: 11.025

5.  More than hypomyelination in Pol-III disorder.

Authors:  Adeline Vanderver; Davide Tonduti; Genevieve Bernard; Jinping Lai; Christopher Rossi; Giovanni Carosso; Martha Quezado; Kondi Wong; Raphael Schiffmann
Journal:  J Neuropathol Exp Neurol       Date:  2013-01       Impact factor: 3.685

6.  Endocrine Aspects of 4H Leukodystrophy: A Case Report and Review of the Literature.

Authors:  Emma Billington; Geneviève Bernard; William Gibson; Bernard Corenblum
Journal:  Case Rep Endocrinol       Date:  2015-05-31

7.  Longitudinal follow up of a boy affected by Pol III-related leukodystrophy: a detailed phenotype description.

Authors:  Roberta Battini; Silvano Bertelloni; Guja Astrea; Manuela Casarano; Lorena Travaglini; Giampiero Baroncelli; Rosa Pasquariello; Enrico Bertini; Giovanni Cioni
Journal:  BMC Med Genet       Date:  2015-07-25       Impact factor: 2.103

8.  Novel mutations of the POLR3A gene caused POLR3-related leukodystrophy in a Chinese family: a case report.

Authors:  Shuiyan Wu; Zhenjiang Bai; Xingqiang Dong; Daoping Yang; Hongmei Chen; Jun Hua; Libing Zhou; Haitao Lv
Journal:  BMC Pediatr       Date:  2019-08-22       Impact factor: 2.125

9.  Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients.

Authors:  Haoran Ji; Dongxiao Li; Ye Wu; Quanli Zhang; Qiang Gu; Han Xie; Taoyun Ji; Huifang Wang; Lu Zhao; Haijuan Zhao; Yanling Yang; Hongchun Feng; Hui Xiong; Jinhua Ji; Zhixian Yang; Liping Kou; Ming Li; Xinhua Bao; Xingzhi Chang; Yuehua Zhang; Li Li; Huijuan Li; Zhengping Niu; Xiru Wu; Jiangxi Xiao; Yuwu Jiang; Jingmin Wang
Journal:  PLoS One       Date:  2018-02-16       Impact factor: 3.240

  9 in total

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