A case of megalencephalic leukoencephalopathy with subcortical cysts (van der Knaap disease): molecular genetic study
| Autor: | Harumi Nakayama, Takanori Ezoe, Naohide Shiroma, Yoshito Hirayama, Masataka Arima, Naomi Kanazawa, Katsuhito Araki, Hisaharu Suzuki, Sui Sone, Harumi Saijo, Hiroshi Hamaguchi, Seiichi Tsujino |
|---|---|
| Rok vydání: | 2003 |
| Předmět: |
Adult
Male Pathology medicine.medical_specialty Megalencephalic leukoencephalopathy with subcortical cysts Ataxia DNA Mutational Analysis macromolecular substances Developmental Neuroscience Leucine Serine medicine Humans Missense mutation Spasticity Central Nervous System Cysts Molecular Biology Gene Cerebral atrophy Brain Diseases Reverse Transcriptase Polymerase Chain Reaction business.industry Dementia Vascular Macrocephaly Membrane Proteins Sequence Analysis DNA General Medicine medicine.disease Magnetic Resonance Imaging Cerebrovascular Disorders Mutation Pediatrics Perinatology and Child Health Mutation (genetic algorithm) Heredodegenerative Disorders Nervous System Neurology (clinical) medicine.symptom business |
| Zdroj: | Brain and Development. 25:362-366 |
| ISSN: | 0387-7604 |
| DOI: | 10.1016/s0387-7604(03)00006-8 |
| Popis: | Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is an autosomal recessive disorder characterized by macrocephaly, deterioration of motor function with ataxia, spasticity and mental decline. It has been revealed that the mutations in the gene, KIAA0027, were responsible for MLC and the gene was renamed subsequently 'MLC1'. A 41-year-old Japanese male with MLC, in whom a homozygous missense mutation, TCG to TTG at codon 93 resulting in S93L, was detected in the MLC1 gene, was described. MRI revealed marked cerebral atrophy and enlargement of the ventricular system. The subject's motor function had severely deteriorated, while his cognitive function had maintained at the level of a 2-year-old for the past 10 years. The mutation in the MLC1 gene of the patient is considered to be a common mutation responsible for MLC in Japanese patients because the same mutation had been detected in two other Japanese patients with MLC. |
| Databáze: | OpenAIRE |
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