Tumefactive Inflammatory Lesions in Juvenile Metachromatic Leukodystrophy
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Editors' Note: Association of Age at Onset and First Symptoms With Disease Progression in Patients With Metachromatic Leukodystrophy
Metachromatic leukodystrophy is a neurodegenerative condition with a variable rate of progression that warrants more systematic investigation. In their natural history study of 98 patients…
Tumefactive inflammatory lesions in juvenile metachromatic leukodystrophy
Juvenile metachromatic leukodystrophy (MLD) is caused by autosomal recessive defects in the ARSA gene coding for arylsulfatase A. Clinically, it is characterized by slowly progressive…
The First Korean Siblings With Adult-Onset 4H Leukodystrophy Related to Nonsynonymous POLR3B Mutations
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POLR1C variants dysregulate splicing and cause hypomyelinating leukodystrophy
Objective To further clarify the molecular pathogenesis of RNA polymerase III (Pol III)-related leukodystrophy caused by biallelic POLR1C variants at a cellular level and potential…
Reader Response: Association of Age at Onset and First Symptoms With Disease Progression in Patients With Metachromatic Leukodystrophy
Kehrer et al.1 categorized different onset forms of metachromatic leukodystrophies based on first symptoms at onset and disease progression. The genotypes associated with each of…
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