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Chinese Cases of Metachromatic Leukodystrophy with the Novel Missense Mutations in ARSA Gene


Metachromatic leukodystrophy(MLD) is an autosomal recessive hereditary neurodegenerative lysosomal storage disorder caused by the mutations in arylsulfatase A gene (ARSA), which results in the deficiency of ARSA enzyme. The common clinical characteristics of MLD are abnormal gait, and then gradually appears ataxia, spastic quadriplegia, optic atrophy, cortical blindness, and dementia. We describe two patients in China who were diagnosed with MLD and find that the four ARSA gene mutations (c.1115G>A, c.302G>T, c.893 G> T, and c.302G>T) are associated with MLD, in which c.893 G>T and c.302G>T are novel mutations by gene sequence and clinical manifestations, to further understand the relationship between MLD and ARSA gene.

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We thank the patients and their parents for their cooperation.


This study was supported by the National Nature Science Foundation of China (grant number 81871246). Kangso Medical Inspection (Beijing, China) supports our study.

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Correspondence to Zongbo Chen.

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The study protocol was approved by the Ethical Committee of the Affiliated Hospital of Qingdao University (Qingdao, China). Informed consent was obtained from all individual participants included in this study.

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Wu, S., Hou, M., Zhang, Y. et al. Chinese Cases of Metachromatic Leukodystrophy with the Novel Missense Mutations in ARSA Gene. J Mol Neurosci 71, 245–251 (2021).

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