2008
DOI: 10.1159/000159928
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A Novel Mutation in the Arylsulfatase A Gene Associated with Adult-Onset Metachromatic Leukodystrophy without Clinical Evidence of Neuropathy

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Cited by 4 publications
(7 citation statements)
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“…MLD‐causing mutations of the ARSA gene result in decreased enzyme activity 5,6 . When considering the genotype–phenotype correlation, it has been suggested that MLD mutations are functionally divided into two different types: mutations encoding ARSA with extremely low enzymatic activity (0 alleles) and mutations with residual activity (R alleles) 2,3,7 . Homozygosity for 0 alleles is generally associated with the severe late infantile type of the disease.…”
Section: Discussionmentioning
confidence: 99%
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“…MLD‐causing mutations of the ARSA gene result in decreased enzyme activity 5,6 . When considering the genotype–phenotype correlation, it has been suggested that MLD mutations are functionally divided into two different types: mutations encoding ARSA with extremely low enzymatic activity (0 alleles) and mutations with residual activity (R alleles) 2,3,7 . Homozygosity for 0 alleles is generally associated with the severe late infantile type of the disease.…”
Section: Discussionmentioning
confidence: 99%
“…Homozygosity for 0 alleles is generally associated with the severe late infantile type of the disease. On the other hand, combinations of 0/R or R/R genotypes tend to be associated with juvenile or adult forms 2 . It is considered that the clinical subtype of an MLD patient should be assessed not only by examining their medical history but also by investigating the genotype–phenotype correlation 8 .…”
Section: Discussionmentioning
confidence: 99%
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