2024
DOI: 10.1159/000540925
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Clinical and Radiological Profile of Nine Patients with Metachromatic Leukodystrophy

Çiğdem Seher Kasapkara,
Burcu Civelek Ürey,
Berrak Bilginer Gürbüz
et al.

Abstract: Introduction: Metachromatic leukodystrophy (MLD) is a rare, demyelinating, autosomal recessive lysosomal storage disease caused by a deficiency in the arylsulfatase A enzyme (ASA), which is encoded by ARSA gene. A lack of ASA activity results in an accumulation of sulfatides in the myelin sheaths of both the central and peripheral nervous systems, leading to developmental and neurocognitive progressive deterioration that can be observed in all age groups. Methods: We present a total of 9 patients with MLD with… Show more

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