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Genetic disorders with central nervous system white matter abnormalities: An update.

ABSTRACT: Several genetic disorders have variable degree of central nervous system white matter abnormalities. We retrieved and reviewed 422 genetic conditions with prominent and consistent involvement of white matter from the literature. We herein describe the current definitions, classification systems, clinical spectrum, neuroimaging findings, genomics, and molecular mechanisms of these conditions. Though diagnosis for most of these disorders relies mainly on genomic tests, specifically exome sequencing, we collate several clinical and neuroimaging findings still relevant in diagnosis of clinically recognizable disorders. We also review the current understanding of pathophysiology and therapeutics of these disorders.

SUBMITTER: Shukla A

PROVIDER: S-EPMC9951823 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature

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Genetic disorders with central nervous system white matter abnormalities: An update.

Shukla Anju A Kaur Parneet P Narayanan Dhanya Lakshmi DL do Rosario Michelle C MC Kadavigere Rajagopal R Girisha Katta Mohan KM

Clinical genetics 20201020 1

Several genetic disorders have variable degree of central nervous system white matter abnormalities. We retrieved and reviewed 422 genetic conditions with prominent and consistent involvement of white matter from the literature. We herein describe the current definitions, classification systems, clinical spectrum, neuroimaging findings, genomics, and molecular mechanisms of these conditions. Though diagnosis for most of these disorders relies mainly on genomic tests, specifically exome sequencin ...[more]

PMID: 33047326

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