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Article

Metachromatic Leukodystrophy (MLD): a Pakistani Family with Novel ARSA Gene Mutation.

Journal of molecular neuroscience : MN - 1 Sept 2017

Shahzad Muhammad Aiman, Khaliq Saba, Amar Ali, Mahmood Saqib

Abstract excerpt

A deficiency of the enzyme arylsulfatase A (ARSA) causes a progressive neurodegenerative lysosomal storage disease known as metachromatic leukodystrophy (MLD). Diagnosis is based on the onset of neurological symptoms, presence of gait abnormalities, spasticity, decreased muscle stretch reflexes and neuro-radiological evidence of demyelination. The purpose of the present study was to identify any mutation in the...

Topics

Adult
Cells, Cultured
Cerebroside-Sulfatase
Child
Female
Humans
Infant
Leukocytes
Leukodystrophy, Metachromatic
Male
Mutation
Pakistan

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Pedigree

Protein Domains

Source

Identifiers

PMID: 28799099
DOI: 10.1007/s12031-017-0959-0

Genes

ARSA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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Metachromatic Leukodystrophy (MLD): a Pakistani Family with Novel ARSA Gene Mutation.PMID 28799099Read ↗

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