Literature DB >> 28117190

Childhood leukodystrophies: A literature review of updates on new definitions, classification, diagnostic approach and management.

Mahmoud Reza Ashrafi1, Ali Reza Tavasoli2.   

Abstract

Childhood leukodystrophies are a growing category of neurological disorders in pediatric neurology practice. With the help of new advanced genetic studies such as whole exome sequencing (WES) and whole genome sequencing (WGS), the list of childhood heritable white matter disorders has been increased to more than one hundred disorders. During the last three decades, the basic concepts and definitions, classification, diagnostic approach and medical management of these disorders much have changed. Pattern recognition based on brain magnetic resonance imaging (MRI), has played an important role in this process. We reviewed the last Global Leukodystrophy Initiative (GLIA) expert opinions in definition, new classification, diagnostic approach and medical management including emerging treatments for pediatric leukodystrophies.
Copyright © 2017 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

Entities:  

Keywords:  Approach; Childhood leukodystrophy; Classification; Management

Mesh:

Year:  2017        PMID: 28117190     DOI: 10.1016/j.braindev.2017.01.001

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


  11 in total

1.  Treacher Collins syndrome mutations in Saccharomyces cerevisiae destabilize RNA polymerase I and III complex integrity.

Authors:  Nancy Walker-Kopp; Ashleigh J Jackobel; Gianno N Pannafino; Paola A Morocho; Xia Xu; Bruce A Knutson
Journal:  Hum Mol Genet       Date:  2017-11-01       Impact factor: 6.150

Review 2.  [Research advances in the clinical genetics of leukodystrophy in children].

Authors:  Zhe-Lan Huang; Wen-Hao Zhou
Journal:  Zhongguo Dang Dai Er Ke Za Zhi       Date:  2022-06-15

3.  Expanded Phenotypic Definition Identifies Hundreds of Potential Causative Genes for Leukodystrophies and Leukoencephalopathies.

Authors:  Veronica M Urbik; Marilyn Schmiedel; Haille Soderholm; Joshua L Bonkowsky
Journal:  Child Neurol Open       Date:  2020-07-08

4.  Affected astrocytes in the spinal cord of the leukodystrophy vanishing white matter.

Authors:  Prisca S Leferink; Nicole Breeuwsma; Marianna Bugiani; Marjo S van der Knaap; Vivi M Heine
Journal:  Glia       Date:  2017-12-29       Impact factor: 7.452

5.  Non-multiple-Sclerosis-Related Typical and Atypical White Matter Disorders: Our Experience in the Last 2 Years in Both Children and Adults From a Tertiary Care Center in India.

Authors:  Sadanandavalli Retnaswami Chandra; Chakravarthula Nitin Ramanujam; Kishore Kalya Vyasaraj; Rita Christopher; Hansashree Padmanabha; Annapureddy Jagadish; Faheem Arshad; Abhishek Gohel
Journal:  J Pediatr Neurosci       Date:  2019 Jan-Mar

6.  Histone Acetylation Defects in Brain Precursor Cells: A Potential Pathogenic Mechanism Causing Proliferation and Differentiation Dysfunctions in Mitochondrial Aspartate-Glutamate Carrier Isoform 1 Deficiency.

Authors:  Eleonora Poeta; Sabrina Petralla; Giorgia Babini; Brunaldo Renzi; Luigi Celauro; Maria Chiara Magnifico; Simona Nicole Barile; Martina Masotti; Francesca De Chirico; Francesca Massenzio; Luigi Viggiano; Luigi Palmieri; Marco Virgili; Francesco Massimo Lasorsa; Barbara Monti
Journal:  Front Cell Neurosci       Date:  2022-01-12       Impact factor: 5.505

7.  Pelizaeus-Merzbacher-Like Disease 1 Caused by a Novel Mutation in GJC2 Gene: A Case Report.

Authors:  Sepehr Javadikooshesh; Hooshang Zaimkohan; Parisa Pourghorban; Fatemeh Bahramim; Nader Ebadi
Journal:  Iran J Med Sci       Date:  2021-11

8.  Independent occurrence of de novo HSPD1 and HIP1 variants in brothers with different neurological disorders - leukodystrophy and autism.

Authors:  Toshiyuki Yamamoto; Keiko Yamamoto-Shimojima; Yuki Ueda; Katsumi Imai; Yukitoshi Takahashi; Eri Imagawa; Noriko Miyake; Naomichi Matsumoto
Journal:  Hum Genome Var       Date:  2018-07-19

9.  Variants in LSM7 impair LSM complexes assembly, neurodevelopment in zebrafish and may be associated with an ultra-rare neurological disease.

Authors:  Alexa Derksen; Hung-Yu Shih; Diane Forget; Lama Darbelli; Luan T Tran; Christian Poitras; Kether Guerrero; Sundaresan Tharun; Fowzan S Alkuraya; Wesam I Kurdi; Cam-Tu Emilie Nguyen; Anne-Marie Laberge; Yue Si; Marie-Soleil Gauthier; Joshua L Bonkowsky; Benoit Coulombe; Geneviève Bernard
Journal:  HGG Adv       Date:  2021-05-05

10.  ACER3-related leukoencephalopathy: expanding the clinical and imaging findings spectrum due to novel variants.

Authors:  Ali Zare Dehnavi; Erfan Heidari; Maryam Rasulinezhad; Morteza Heidari; Mahmoud Reza Ashrafi; Mohammad Mahdi Hosseini; Fatemeh Sadeghzadeh; Mohammad-Sadegh Fallah; Noushin Rostampour; Amir Bahraini; Masoud Garshasbi; Ali Reza Tavasoli
Journal:  Hum Genomics       Date:  2021-07-19       Impact factor: 4.639

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