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Metachromatic leukodystrophy, adult-onset, with normal arylsulfatase A

MedGen UID:
331879
•Concept ID:
C1835007
•
Disease or Syndrome
Synonym: Metachromatic Leukodystrophy, Adult-Onset, with Normal Arylsulfatase A
 
OMIM®: 156310

Professional guidelines

PubMed

Metachromatic leukodystrophy: subtype genotype/phenotype correlations and identification of novel missense mutations (P148L and P191T) causing the juvenile-onset disease.
Qu Y, Shapira E, Desnick RJ
Mol Genet Metab 1999 Jul;67(3):206-12. doi: 10.1006/mgme.1999.2865. PMID: 10381328

Recent clinical studies

Diagnosis

Late-Onset Metachromatic Leukodystrophy with Early Onset Dementia Associated with a Novel Missense Mutation in the Arylsulfatase A Gene.
Stoeck K, Psychogios MN, Ohlenbusch A, Steinfeld R, Schmidt J
J Alzheimers Dis 2016;51(3):683-7. doi: 10.3233/JAD-150819. PMID: 26890752
Pseudodeficiencies of arylsulfatase A and galactocerebrosidase activities.
Wenger DA, Louie E
Dev Neurosci 1991;13(4-5):216-21. doi: 10.1159/000112163. PMID: 1687777

Clinical prediction guides

Metachromatic leukodystrophy: subtype genotype/phenotype correlations and identification of novel missense mutations (P148L and P191T) causing the juvenile-onset disease.
Qu Y, Shapira E, Desnick RJ
Mol Genet Metab 1999 Jul;67(3):206-12. doi: 10.1006/mgme.1999.2865. PMID: 10381328

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