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Article

Identification of a Novel ARSA Gene Mutation Through High-Throughput Molecular Diagnosis Method in Two Girls with Late Infantile Metachromatic Leukodystrophy.

Neuromolecular medicine - 1 Dec 2023

Yari Abolfazl, Vafaeie Farzane, Karam Zahra Miri, Hosseini Mahya, Hashemzade Hassan, Rahimi Maryam Sadat, Ehsanbakhsh Alireza, Miri-Moghaddam Ebrahim

Abstract excerpt

Metachromatic leukodystrophy (MLD) is a rare leukoencephalopathy caused by pathogenic mutations in the ARSA gene. It manifests as severe motor symptoms, mental problems, and sometimes, seizures. We aimed to investigate the phenotypic manifestations and genetic causes of MLD in an Iranian family. We present the case of a 3-year-old girl who presented with hypotonia, muscular atrophy, and seizures. Neurological and...

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Source

Identifiers

PMID: 37682448
DOI: 10.1007/s12017-023-08757-y

Genes

ARSA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Identification of a Novel ARSA Gene Mutation Through High-Throughput Molecular Diagnosis Method in Two Girls with Late Infantile Metachromatic Leukodystrophy.PMID 37682448Read ↗

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