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Published on: April 4, 2018
Adult-type metachromatic leukodystrophy with compound heterozygous ARSA mutations: a case report and phenotypic
Takehiro Hayashi1, Masayuki Nakamura, Mio Ichiba
1Department of Psychiatry, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan.
Abstract:
Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease caused by a deficiency of arylsulfatase A. MLD is a heterogeneous disease with variable age at onset and variable clinical features. We evaluated a 33-year-old female patient who developed manifestations of disinhibitory behavior. She was diagnosed with MLD by genetic analysis, which revealed compound heterozygous ARSA missense mutations (p.G99D and p.T409I). The same combination of mutations was previously reported in a Japanese patient with similar symptoms. We performed additional, detailed neuropsychological tests with functional imaging on the current patient that demonstrated frontal lobe dysfunction. These results indicate that the mutations have important implications for genotype-phenotype correlation in MLD.
Insights
Metachromatic leukodystrophy (MLD), a rare genetic disorder, can present with behavioral changes due to arylsulfatase A deficiency. This case highlights specific ARSA mutations linked to frontal lobe dysfunction and MLD.
Area of Science:
- Neuroscience
- Genetics
- Biochemistry
Background:
- Metachromatic leukodystrophy (MLD) is an inherited lysosomal storage disorder.
- It results from arylsulfatase A deficiency, impacting the nervous system.
- MLD exhibits significant clinical heterogeneity in onset and presentation.
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