Literature DB >> 21353777

Infantile-onset spinal muscular atrophy with respiratory distress-1 diagnosed in a 20-year-old man.

Tyler Mark Pierson1, Gary Tart, David Adams, Camilo Toro, Gretchen Golas, Cynthia Tifft, William Gahl.   

Abstract

Spinal muscular atrophy with respiratory distress (SMARD1) presents within the first 13months of age with low birth weight, progressive length dependent motor neuropathy, and respiratory failure from diaphragmatic paralysis. SMARD1 is caused by mutations in IGHMBP2, encoding the immunoglobulin μ-binding protein 2. Because of the severity of the disorder, many infantile-onset SMARD1 patients do not live past the first decade of life. This report documents the clinical course of a 20-year-old man diagnosed with SMARD1. Published by Elsevier B.V.

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Year:  2011        PMID： 21353777      PMCID： PMC3085694          DOI： 10.1016/j.nmd.2011.02.005

Source DB:  PubMed          Journal:  Neuromuscul Disord        ISSN： 0960-8966            Impact factor:   4.296


  16 in total

1.  Respiratory distress as the initial manifestation of Werdnig-Hoffmann disease.

Authors:  R B Mellins; A P Hays; A P Gold; W E Berdon; J D Bowdler
Journal:  Pediatrics       Date:  1974-01       Impact factor: 7.124

2.  Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1.

Authors:  K Grohmann; M Schuelke; A Diers; K Hoffmann; B Lucke; C Adams; E Bertini; H Leonhardt-Horti; F Muntoni; R Ouvrier; A Pfeufer; R Rossi; L Van Maldergem; J M Wilmshurst; T F Wienker; M Sendtner; S Rudnik-Schöneborn; K Zerres; C Hübner
Journal:  Nat Genet       Date:  2001-09       Impact factor: 38.330

3.  Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).

Authors:  Katja Grohmann; Raymonda Varon; Piroschka Stolz; Markus Schuelke; Catrin Janetzki; Enrico Bertini; Kate Bushby; Francesco Muntoni; Robert Ouvrier; Lionel Van Maldergem; Nathalie M L A Goemans; Hanns Lochmüller; Stephan Eichholz; Coleen Adams; Friedrich Bosch; Padraic Grattan-Smith; Carmen Navarro; Heidemarie Neitzel; Tilman Polster; Haluk Topaloğlu; Christina Steglich; Ulf P Guenther; Klaus Zerres; Sabine Rudnik-Schöneborn; Christoph Hübner
Journal:  Ann Neurol       Date:  2003-12       Impact factor: 10.422

4.  Long-term observations of patients with infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).

Authors:  S Rudnik-Schöneborn; P Stolz; R Varon; K Grohmann; M Schächtele; U-P Ketelsen; D Stavrou; H Kurz; C Hübner; K Zerres
Journal:  Neuropediatrics       Date:  2004-06       Impact factor: 1.947

5.  Allelic heterogeneity of SMARD1 at the IGHMBP2 locus.

Authors:  I Maystadt; M Zarhrate; P Landrieu; O Boespflug-Tanguy; S Sukno; P Collignon; J Melki; C Verellen-Dumoulin; A Munnich; L Viollet
Journal:  Hum Mutat       Date:  2004-05       Impact factor: 4.878

6.  Identification of the mouse neuromuscular degeneration gene and mapping of a second site suppressor allele.

Authors:  G A Cox; C L Mahaffey; W N Frankel
Journal:  Neuron       Date:  1998-12       Impact factor: 17.173

7.  Characterization of Ighmbp2 in motor neurons and implications for the pathomechanism in a mouse model of human spinal muscular atrophy with respiratory distress type 1 (SMARD1).

Authors:  Katja Grohmann; Wilfried Rossoll; Igor Kobsar; Bettina Holtmann; Sibylle Jablonka; Carsten Wessig; Gisela Stoltenburg-Didinger; Utz Fischer; Christoph Hübner; Rudolf Martini; Michael Sendtner
Journal:  Hum Mol Genet       Date:  2004-07-21       Impact factor: 6.150

8.  'Congenital peripheral neuropathy presenting as apnoea and respiratory insufficiency: spinal muscular atrophy with respiratory distress type 1 (SMARD1)'.

Authors:  Richard E Appleton; Christoph Hübner; Katja Grohmann; Raymonda Varon
Journal:  Dev Med Child Neurol       Date:  2004-08       Impact factor: 5.449

9.  Transgenic rescue of neurogenic atrophy in the nmd mouse reveals a role for Ighmbp2 in dilated cardiomyopathy.

Authors:  Terry P Maddatu; Sean M Garvey; David G Schroeder; Thomas G Hampton; Gregory A Cox
Journal:  Hum Mol Genet       Date:  2004-04-06       Impact factor: 6.150

10.  Interfamilial phenotypic heterogeneity in SMARD1.

Authors:  S Joseph; S A Robb; S Mohammed; S Lillis; A Simonds; A Y Manzur; S Walter; E Wraige
Journal:  Neuromuscul Disord       Date:  2009-01-20       Impact factor: 4.296
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  9 in total

1.  Distal Spinal Muscular Atrophy: An Overlooked Etiology of Weaning Failure in Children with Respiratory Insufficiency.

Authors:  Mojdeh Habibi Zoham; Asgar Eghbalkhah; Kamyar Kamrani; Nahid Khosroshahi; Hossein Yousefimanesh; Zahra Eskandarizadeh
Journal:  J Pediatr Intensive Care       Date:  2018-01-04

2.  Clinical diversity caused by novel IGHMBP2 variants.

Authors:  Jun-Hui Yuan; Akihiro Hashiguchi; Akiko Yoshimura; Hiroshi Yaguchi; Koji Tsuzaki; Azusa Ikeda; Kenji Wada-Isoe; Masahiro Ando; Tomonori Nakamura; Yujiro Higuchi; Yu Hiramatsu; Yuji Okamoto; Hiroshi Takashima
Journal:  J Hum Genet       Date:  2017-03-09       Impact factor: 3.172

3.  The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine.

Authors:  William A Gahl; John J Mulvihill; Camilo Toro; Thomas C Markello; Anastasia L Wise; Rachel B Ramoni; David R Adams; Cynthia J Tifft
Journal:  Mol Genet Metab       Date:  2016-01-22       Impact factor: 4.797

4.  The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases.

Authors:  William A Gahl; Thomas C Markello; Camilo Toro; Karin Fuentes Fajardo; Murat Sincan; Fred Gill; Hannah Carlson-Donohoe; Andrea Gropman; Tyler Mark Pierson; Gretchen Golas; Lynne Wolfe; Catherine Groden; Rena Godfrey; Michele Nehrebecky; Colleen Wahl; Dennis M D Landis; Sandra Yang; Anne Madeo; James C Mullikin; Cornelius F Boerkoel; Cynthia J Tifft; David Adams
Journal:  Genet Med       Date:  2011-09-26       Impact factor: 8.822

Review 5.  Clinical and molecular features and therapeutic perspectives of spinal muscular atrophy with respiratory distress type 1.

Authors:  Fiammetta Vanoli; Paola Rinchetti; Francesca Porro; Valeria Parente; Stefania Corti
Journal:  J Cell Mol Med       Date:  2015-06-20       Impact factor: 5.310

6.  Validation of the Pathogenic Effect of IGHMBP2 Gene Mutations Based on Yeast S. cerevisiae Model.

Authors:  Weronika Rzepnikowska; Joanna Kaminska; Andrzej Kochański
Journal:  Int J Mol Sci       Date:  2022-08-31       Impact factor: 6.208

7.  Heterogeneity in spinal muscular atrophy with respiratory distress type 1.

Authors:  Aziz Majid; Khan Talat; Lumsden Colin; Ross Caroline; Kingston Helen; De Goede Christian
Journal:  J Pediatr Neurosci       Date:  2012-09

8.  The Ighmbp2 helicase structure reveals the molecular basis for disease-causing mutations in DMSA1.

Authors:  Siew Choo Lim; Matthew W Bowler; Ting Feng Lai; Haiwei Song
Journal:  Nucleic Acids Res       Date:  2012-09-10       Impact factor: 16.971

9.  Spinal muscular atrophy with respiratory distress type 1 (SMARD1) Report of a Spanish case with extended clinicopathological follow-up.

Authors:  Beatriz San Millan; Jose M Fernandez; Carmen Navarro; Alfredo Reparaz; Susana Teijeira
Journal:  Clin Neuropathol       Date:  2016 Mar-Apr       Impact factor: 1.368
  9 in total

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