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

Shukla, Anju and Kaur, Parneet and Narayanan, Dhanya L and Rosario, Michelle C do and Rajagopal, KV and Girisha, KM (2021) Genetic disorders with central nervous system white matter abnormalities: An update. Clinical Genetics, 99 (1). pp. 119-132. ISSN 0009-9163

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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.

Item Type: Article
Uncontrolled Keywords: Demyelination; genetic leukoencephalopathies; hypomyeliantion; inherited white matter disorders; leukodystrophies; leukoencephalopathy; myelination; delayed myelination.
Subjects: Medicine > KMC Manipal > Medical Genetics
Medicine > KMC Manipal > Radiology
Depositing User: KMC Library
Date Deposited: 01 Jun 2021 08:57
Last Modified: 12 May 2022 04:53

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