TY - JOUR
T1 - Genetic disorders with central nervous system white matter abnormalities
T2 - An update
AU - Shukla, Anju
AU - Kaur, Parneet
AU - Narayanan, Dhanya Lakshmi
AU - do Rosario, Michelle C.
AU - Kadavigere, Rajagopal
AU - Girisha, Katta Mohan
N1 - Funding Information:
We thank Department of Health Research, Ministry of Health and Family Welfare, Government of India for funding the project titled “Clinical and Molecular Characterization of Leukodystrophies in Indian Children” (V.25011/379/2015‐GIA/HR) which led to our understanding of disorders with CNS WMAs and assisted in this review.
Publisher Copyright:
© 2020 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd
PY - 2021/1/1
Y1 - 2021/1/1
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85092731367&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85092731367&partnerID=8YFLogxK
U2 - 10.1111/cge.13863
DO - 10.1111/cge.13863
M3 - Review article
AN - SCOPUS:85092731367
SN - 0009-9163
VL - 99
SP - 119
EP - 132
JO - Clinical Genetics
JF - Clinical Genetics
IS - 1
ER -