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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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.

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