Adult-type metachromatic leukodystrophy with compound heterozygous ARSA mutations: A case report and phenotypic comparison with a previously reported case
| Autor: | Nari Shiokawa, Yoko Tomiyasu, Masayuki Nakamura, Mieko Matsuda, Fujio Umehara, Takehiro Hayashi, Kimiyoshi Arimura, Satsuki Mori, Takanori Ishizuka, Mio Ichiba, Yukie Inamori, Akira Sano, Yuji Okamoto, Yoshiaki Nakabeppu, Akiyuki Tomiyasu, Maiko Kato, Hirochika Shimo |
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| Rok vydání: | 2011 |
| Předmět: |
medicine.medical_specialty
Mutation Pathology General Neuroscience General Medicine medicine.disease Compound heterozygosity medicine.disease_cause complex mixtures Genetic determinism Metachromatic leukodystrophy Psychiatry and Mental health Endocrinology Degenerative disease Neurology Internal medicine Genotype medicine Lysosomal storage disease Missense mutation Neurology (clinical) Psychology |
| Zdroj: | Psychiatry and Clinical Neurosciences. 65:105-108 |
| ISSN: | 1323-1316 |
| DOI: | 10.1111/j.1440-1819.2010.02169.x |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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