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

被引：4

作者：

Xu, Lulu ^{[1
]}

Zhong, Meixiang ^{[1
]}

Wang, Yajuan ^{[2
]}

Wang, Zhihong ^{[1
]}

Song, Jie ^{[1
]}

Zhao, Jing ^{[1
]}

Yu, Hongyun ^{[1
]}

Yang, Zhencui ^{[3
]}

Yan, Wenjing ^{[4
]}

Zheng, Xueping ^{[1
]}

机构：

[1] Qingdao Univ, Affiliated Hosp, Dept Geriatr Med, Qingdao, Peoples R China

[2] Qingdao Eighth Peoples Hosp, Dept Geriatr Med, Qingdao, Peoples R China

[3] Qingdao Univ, Affiliated Hosp, Dept Clin Lab, Qingdao, Peoples R China

[4] Qingdao Univ, Affiliated Hosp, Dept Neurol, Qingdao, Peoples R China

来源：

FRONTIERS IN NEUROLOGY | 2021年 / 11卷

基金：

中国国家自然科学基金;

关键词：

visual dysfunction; deletion mutation; arylsulphatase A; adult onset; metachromatic leukodystrophy; PHENOTYPE; SYMPTOMS;

D O I：

10.3389/fneur.2020.576881

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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 vision disturbance, who was initially misdiagnosed as multiple sclerosis. Through genetic screening, this patient was later identified to have a full deletion of exon 4 and the novel p.P220L mutation in the arylsulfatase A (ARSA) gene. These mutations are reported for the first time in MLD. These data will help to update the mutation profiles of patients with MLD.

引用

页数：8

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