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 these categories seem to indicate that earlier symptom onset is associated with more severe arylsulfatase A (ARSA) deficiency.
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…
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…
Objectives 4H leukodystrophy is a rare autosomal recessive hypomyelinating disorder characterized by several combinations of motor dysfunction, abnormal dentition, and ophthalmic and endocrine abnormalities. To…
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…
POLR3-related disorders are rare hypomyelinating leukodystrophies associated with hypodontia. We present a female patient, who was referred to pediatric neurology at 2 years of age…
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