Literature DB >> 17159124

Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontia.

M Timmons1, M Tsokos, M Abu Asab, S B Seminara, G C Zirzow, C R Kaneski, J D Heiss, M S van der Knaap, M T Vanier, R Schiffmann, K Wong.   

Abstract

We identified four unrelated patients (three female, one male) aged 20 to 30 years with hypomyelination, pituitary hypogonadotropic hypogonadism, and hypodontia. Electron microscopy and myelin protein immunohistochemistry of sural nerves showed granular debris-lined clefts, expanded abaxonal space, outpocketing with vacuolar disruption, and loss of normal myelin periodicity. Reduced galactocerebroside, sphingomyelin, and GM1-N-acetylglucosamine and increased esterified cholesterol were found. This is a clinically homogeneous progressive hypomyelinating disorder. The term 4H syndrome is suggested.

Entities:  

Mesh：

Year:  2006        PMID： 17159124      PMCID： PMC1950601          DOI： 10.1212/01.wnl.0000247666.28904.35

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


  10 in total

1.  Endocrine defects in mice carrying a null mutation for the progesterone receptor gene.

Authors:  P E Chappell; J P Lydon; O M Conneely; B W O'Malley; J E Levine
Journal:  Endocrinology       Date:  1997-10       Impact factor: 4.736

2.  Expression of steroidogenic acute regulatory protein in cultured Schwann cells and its regulation by cAMP.

Authors:  Y Benmessahel; R Guennoun; F Cadepond; E E Baulieu; M Schumacher; G Groyer
Journal:  Ann N Y Acad Sci       Date:  2002-11       Impact factor: 5.691

3.  Formation of intranuclear crystalloids and proliferation of the smooth endoplasmic reticulum in schwann cells induced by tellurium treatment: association with overexpression of HMG CoA reductase and HMG CoA synthase mRNA.

Authors:  M T Berciano; R Fernandez; E Pena; E Calle; N T Villagra; J C Rodriguez-Rey; M Lafarga
Journal:  Glia       Date:  2000-02-01       Impact factor: 7.452

4.  Structure of the major glucosamine-containing ganglioside of human tissues.

Authors:  Y T Li; J E Månsson; M T Vanier; L Svennerholm
Journal:  J Biol Chem       Date:  1973-04-10       Impact factor: 5.157

Review 5.  Glycoproteins of myelin sheaths.

Authors:  R H Quarles
Journal:  J Mol Neurosci       Date:  1997-02       Impact factor: 3.444

6.  Leukoencephalopathy with ataxia, hypodontia, and hypomyelination.

Authors:  N I Wolf; 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
Journal:  Neurology       Date:  2005-04-26       Impact factor: 9.910

7.  Hypogonadotropic hypogonadism and cerebellar ataxia: detailed phenotypic characterization of a large, extended kindred.

Authors:  Stephanie B Seminara; James S Acierno; Najim A Abdulwahid; William F Crowley; David H Margolin
Journal:  J Clin Endocrinol Metab       Date:  2002-04       Impact factor: 5.958

8.  Schwannian crystalline-like inclusions bodies (Fardeau-Engel bodies) revisited in peripheral neuropathies.

Authors:  Claude Vital; Sandrine Bouillot; Marie-Hélène Canron; Anne Vital
Journal:  Ultrastruct Pathol       Date:  2002 Jan-Feb       Impact factor: 1.094

Review 9.  Genetic control of pituitary development and hypopituitarism.

Authors:  Xiaoyan Zhu; Chijen R Lin; Gratien G Prefontaine; Jessica Tollkuhn; Michael G Rosenfeld
Journal:  Curr Opin Genet Dev       Date:  2005-06       Impact factor: 5.578

Review 10.  Hypogonadotropic hypogonadism.

Authors:  Leticia F G Silveira; Gavin S MacColl; Pierre M G Bouloux
Journal:  Semin Reprod Med       Date:  2002-11       Impact factor: 1.303
  10 in total
  35 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

5.  Phospholipase A2-activating protein is associated with a novel form of leukoencephalopathy.

Authors:  Tzipora C Falik Zaccai; David Savitzki; Yifat Zivony-Elboum; Thierry Vilboux; Eric C Fitts; Yishay Shoval; Limor Kalfon; Nadra Samra; Zohar Keren; Bella Gross; Natalia Chasnyk; Rachel Straussberg; James C Mullikin; Jamie K Teer; Dan Geiger; Daniel Kornitzer; Ora Bitterman-Deutsch; Abraham O Samson; Maki Wakamiya; Johnny W Peterson; Michelle L Kirtley; Iryna V Pinchuk; Wallace B Baze; William A Gahl; Robert Kleta; Yair Anikster; Ashok K Chopra
Journal:  Brain       Date:  2016-12-21       Impact factor: 13.501

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.  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
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.