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

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.

journal_name

Brain Dev

journal_title

Brain & development

authors

Ashrafi MR,Tavasoli AR

doi

10.1016/j.braindev.2017.01.001

subject

Has Abstract

pub_date

2017-05-01 00:00:00

pages

369-385

issue

5

eissn

0387-7604

issn

1872-7131

pii

S0387-7604(17)30001-3

journal_volume

39

pub_type

杂志文章,评审

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