Case Report: Novel Arylsulfatase A (ARSA) Gene Mutations in a Patient With Adult-Onset Metachromatic Leukodystrophy Misdiagnosed as Multiple Sclerosis

Case Report: Novel Arylsulfatase A (ARSA) Gene Mutations in a Patient With Adult-Onset Metachromatic Leukodystrophy Misdiagnosed as Multiple Sclerosis

Metachromatic leukodystrophy (MLD) is an autosomal recessive hereditary disorder characterized by the accumulation of sulfatide in the central and peripheral nervous systems. Herein, we present the case of an adult patient with MLD who had mild cognitive and psychiatric dysfunctions and severe visio...

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Bibliographic Details
Main Authors: Lulu Xu, Meixiang Zhong, Yajuan Wang, Zhihong Wang, Jie Song, Jing Zhao, Hongyun Yu, Zhencui Yang, Wenjing Yan, Xueping Zheng
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-01-01
Series:Frontiers in Neurology
Subjects:
visual dysfunction
deletion mutation
arylsulphatase A
adult onset
metachromatic leukodystrophy
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2020.576881/full

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https://www.frontiersin.org/articles/10.3389/fneur.2020.576881/full

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