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Article

Spectrum of ARSA variations in Asian Indian patients with Arylsulfatase A deficient metachromatic leukodystrophy.

Journal of human genetics - 1 Apr 2019

Narayanan Dhanya Lakshmi, Matta Divya, Gupta Neerja, Kabra Madhulika, Ranganath Prajnya, Aggarwal Shagun, Phadke Shubha R, Datar Chaitanya, Gowrishankar Kalpana, Kamate Mahesh, Jain Jamal Mohammed Nurul, Dalal Ashwin

Abstract excerpt

Metachromatic leukodystrophy due to Arylsulfatase A enzyme deficiency is an autosomal recessive disorder caused by biallelic variations in ARSA gene. Till date 186 variations have been reported in ARSA gene worldwide, but the variation spectrum in India is not known. The aim of this study was to identify the variation profile in Indian patients presenting with features of Arylsulfatase A deficient metachromatic...

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PMID: 30674982
DOI: 10.1038/s10038-019-0560-1

Genes

ARSA

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