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…
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…
Objectives All categories included in the AT(N) classification can now be measured in plasma. However, their agreement with cerebrospinal fluid (CSF) markers is not fully…
Objective We aimed to investigate the influence of environmental risk factors for multiple sclerosis (MS) in different genetic contexts, and study if interactions between environmental…
English
العربية
简体中文
Nederlands
Français
Deutsch
Italiano
Português
Русский
Español
Responses