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.

Automated summary

Metachromatic leukodystrophy is a neurodegenerative disorder caused by mutations in the ARSA gene, leading to deficiency of the ARSA enzyme. Common clinical features include abnormal gait and neurological symptoms. Studying novel ARSA gene mutations can provide further insights into the pathogenesis of Metachromatic leukodystrophy.