Literature DB >> 25577286

Consensus statement on preventive and symptomatic care of leukodystrophy patients.

Keith Van Haren1, Joshua L Bonkowsky2, Genevieve Bernard3, Jennifer L Murphy4, Amy Pizzino4, Guy Helman4, Dean Suhr5, Jacque Waggoner6, Don Hobson7, Adeline Vanderver8, Marc C Patterson9.   

Abstract

Leukodystrophies are inherited disorders whose primary pathophysiology consists of abnormal deposition or progressive disruption of brain myelin. Leukodystrophy patients manifest many of the same symptoms and medical complications despite the wide spectrum of genetic origins. Although no definitive cures exist, all of these conditions are treatable. This report provides the first expert consensus on the recognition and treatment of medical and psychosocial complications associated with leukodystrophies. We include a discussion of serious and potentially preventable medical complications and propose several preventive care strategies. We also outline the need for future research to prioritize clinical needs and subsequently develop, validate, and optimize specific care strategies.
Copyright © 2014 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  Care; Consensus; Leukodystrophy; Outcomes; Prevention; Therapy

Mesh:

Year:  2014        PMID: 25577286     DOI: 10.1016/j.ymgme.2014.12.433

Source DB:  PubMed          Journal:  Mol Genet Metab        ISSN: 1096-7192            Impact factor:   4.797


  11 in total

1.  Magnetic resonance imaging in the diagnosis of white matter signal abnormalities.

Authors:  Ravi Datar; Asuri Narayan Prasad; Keng Yeow Tay; Charles Anthony Rupar; Pavlo Ohorodnyk; Michael Miller; Chitra Prasad
Journal:  Neuroradiol J       Date:  2018-03-08

2.  Disease specific therapies in leukodystrophies and leukoencephalopathies.

Authors:  Guy Helman; Keith Van Haren; Joshua L Bonkowsky; Genevieve Bernard; Amy Pizzino; Nancy Braverman; Dean Suhr; Marc C Patterson; S Ali Fatemi; Jeff Leonard; Marjo S van der Knaap; Stephen A Back; Stephen Damiani; Steven A Goldman; Asako Takanohashi; Magdalena Petryniak; David Rowitch; Albee Messing; Lawrence Wrabetz; Raphael Schiffmann; Florian Eichler; Maria L Escolar; Adeline Vanderver
Journal:  Mol Genet Metab       Date:  2015-02-07       Impact factor: 4.797

3.  Modeling the Mutational and Phenotypic Landscapes of Pelizaeus-Merzbacher Disease with Human iPSC-Derived Oligodendrocytes.

Authors:  Zachary S Nevin; Daniel C Factor; Robert T Karl; Panagiotis Douvaras; Jeremy Laukka; Martha S Windrem; Steven A Goldman; Valentina Fossati; Grace M Hobson; Paul J Tesar
Journal:  Am J Hum Genet       Date:  2017-03-30       Impact factor: 11.025

4.  Novel and known morbidities of leukodystrophies identified using a phenome-wide association study.

Authors:  Joshua L Bonkowsky; Jacob Wilkes; Jian Ying; Wei-Qi Wei
Journal:  Neurol Clin Pract       Date:  2020-10

Review 5.  Genotypic and phenotypic characteristics of juvenile/adult onset vanishing white matter: a series of 14 Chinese patients.

Authors:  Yuting Ren; Xueying Yu; Bin Chen; Hefei Tang; Songtao Niu; Xingao Wang; Hua Pan; Zaiqiang Zhang
Journal:  Neurol Sci       Date:  2022-04-07       Impact factor: 3.830

6.  Reliability of the Telemedicine Application of the Gross Motor Function Measure-88 in Patients With Leukodystrophy.

Authors:  Francesco Gavazzi; Laura Adang; Amy Waldman; Amanda K Jan; Geraldine Liu; Scott A Lorch; Sara B DeMauro; Justine Shults; Samuel R Pierce; Elizabeth Ballance; Tracy Kornafel; Ann Harrington; Allan M Glanzman; Adeline Vanderver
Journal:  Pediatr Neurol       Date:  2021-09-24       Impact factor: 4.210

7.  Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies.

Authors:  Laura A Adang; Omar Sherbini; Laura Ball; Miriam Bloom; Anil Darbari; Hernan Amartino; Donna DiVito; Florian Eichler; Maria Escolar; Sarah H Evans; Ali Fatemi; Jamie Fraser; Leslie Hollowell; Nicole Jaffe; Christopher Joseph; Mary Karpinski; Stephanie Keller; Ryan Maddock; Edna Mancilla; Bruce McClary; Jana Mertz; Kiley Morgart; Thomas Langan; Richard Leventer; Sumit Parikh; Amy Pizzino; Erin Prange; Deborah L Renaud; William Rizzo; Jay Shapiro; Dean Suhr; Teryn Suhr; Davide Tonduti; Jacque Waggoner; Amy Waldman; Nicole I Wolf; Ayelet Zerem; Joshua L Bonkowsky; Genevieve Bernard; Keith van Haren; Adeline Vanderver
Journal:  Mol Genet Metab       Date:  2017-08-20       Impact factor: 4.797

8.  Experience of Parents of Children with Genetically Determined Leukoencephalopathies Regarding the Adapted Health Care Services During the COVID-19 Pandemic.

Authors:  Pouneh Amir Yazdani; Marie-Lou St-Jean; Sara Matovic; Aaron Spahr; Luan T Tran; Renée-Myriam Boucher; Chantal Poulin; Bradley Osterman; Myriam Srour; Bernard Rosenblatt; Sébastien Chenier; Jean-Francois Soucy; Anne-Marie Laberge; Nancy Braverman; Maria Daniela D'Agostino; Cam-Tu Emilie Nguyen; Maxime Morsa; Geneviève Bernard
Journal:  J Child Neurol       Date:  2022-01-05       Impact factor: 2.363

9.  Natural History of Vanishing White Matter.

Authors:  Eline M C Hamilton; Hannemieke D W van der Lei; Gerre Vermeulen; Jan A M Gerver; Charles M Lourenço; Sakkubai Naidu; Hanna Mierzewska; Reinoud J B J Gemke; Henrica C W de Vet; Bernard M J Uitdehaag; Birgit I Lissenberg-Witte; Marjo S van der Knaap
Journal:  Ann Neurol       Date:  2018-09-06       Impact factor: 11.274

10.  Genetic and phenotypic characterization of NKX6-2-related spastic ataxia and hypomyelination.

Authors:  V Chelban; M Alsagob; K Kloth; A Chirita-Emandi; J Vandrovcova; R Maroofian; I Davagnanam; S Bakhtiari; M D AlSayed; Z Rahbeeni; H AlZaidan; N T Malintan; J Johannsen; S Efthymiou; E Ghayoor Karimiani; K Mankad; S A Al-Shahrani; M Beiraghi Toosi; M AlShammari; S Groppa; N A Haridy; L AlQuait; A Qari; R Huma; M A Salih; R Almass; F B Almutairi; M H Hamad; I A Alorainy; K Ramzan; F Imtiaz; M Puiu; M C Kruer; T Bierhals; N W Wood; D Colak; H Houlden; N Kaya
Journal:  Eur J Neurol       Date:  2019-10-17       Impact factor: 6.089

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