A case of megalencephalic leukoencephalopathy with subcortical cysts (van der Knaap disease): molecular genetic study
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 t...
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Published in | Brain & development (Tokyo. 1979) Vol. 25; no. 5; pp. 362 - 366 |
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Main Authors | , , , , , , , , , , , |
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Elsevier B.V
01.08.2003
Elsevier Science |
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Abstract | 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, T
CG to T
TG 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. |
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AbstractList | 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. 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, T CG to T TG 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. |
Author | Suzuki, Hisaharu Hamaguchi, Hiroshi Hirayama, Yoshito Arima, Masataka Nakayama, Harumi Sone, Sui Kanazawa, Naomi Saijo, Harumi Ezoe, Takanori Tsujino, Seiichi Shiroma, Naohide Araki, Katsuhito |
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Keywords | MLC1 gene Mutation Leukoencephalopathy Megalencephalic leukoencephalopathy with subcortical cysts Cerebral cortex Homozygosity Codon Missense mutation Cyst Ataxia Benign neoplasm Neurological disorder Human Nervous system diseases Spasticity Muscle tonus alteration Nuclear magnetic resonance imaging Japanese Cerebral disorder Genetic disease Striated muscle disease Deterioration Central nervous system disease Medical imagery Subcortex Macrocephaly |
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References | van der Knaap, Barth, Stroink, van Nieuwenhuizen, Arts, Hoogenraad (BIB1) 1995; 37 Barkovich, Kjos, Jackson, Norman (BIB5) 1988; 166 Takanashi, Sugita, Kohno (BIB9) 1999; 165 Topcu, Saatci, Topcuoglu, Kose, Kunak (BIB3) 1998; 20 Hamaguchi, Nihei, Nakamoto, Ezoe, Naito, Hara (BIB7) 1993; 15 Koeda, Kenzo (BIB8) 1998; 20 Leegwater, Yuan, van der Steen, Mulders, Könst, Boor (BIB2) 2001; 68 Ben-Zeev, Gross, Kushnir, Shalev, Hoffman, Shinar (BIB4) 2001; 16 van der Knaap, Naidu, Breiter, Blaser, Stroink, Springer (BIB6) 2001 van der Knaap, Barth, Vrensen, Valk (BIB10) 1996; 92 Topcu (10.1016/S0387-7604(03)00006-8_BIB3) 1998; 20 van der Knaap (10.1016/S0387-7604(03)00006-8_BIB6) 2001 Koeda (10.1016/S0387-7604(03)00006-8_BIB8) 1998; 20 van der Knaap (10.1016/S0387-7604(03)00006-8_BIB10) 1996; 92 Ben-Zeev (10.1016/S0387-7604(03)00006-8_BIB4) 2001; 16 Hamaguchi (10.1016/S0387-7604(03)00006-8_BIB7) 1993; 15 Takanashi (10.1016/S0387-7604(03)00006-8_BIB9) 1999; 165 Leegwater (10.1016/S0387-7604(03)00006-8_BIB2) 2001; 68 Barkovich (10.1016/S0387-7604(03)00006-8_BIB5) 1988; 166 van der Knaap (10.1016/S0387-7604(03)00006-8_BIB1) 1995; 37 |
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SubjectTerms | Adult Biological and medical sciences Brain Diseases - genetics Central Nervous System Cysts - genetics Central Nervous System Cysts - pathology Cerebrovascular Disorders - genetics Cerebrovascular Disorders - pathology Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Dementia, Vascular - genetics DNA Mutational Analysis Heredodegenerative Disorders, Nervous System - genetics Heredodegenerative Disorders, Nervous System - pathology Humans Leucine - genetics Leukoencephalopathy Magnetic Resonance Imaging Male Medical sciences Megalencephalic leukoencephalopathy with subcortical cysts Membrane Proteins - genetics MLC1 gene Molecular Biology - methods Mutation Neurology Reverse Transcriptase Polymerase Chain Reaction - methods Sequence Analysis, DNA Serine - genetics Tumors of the nervous system. Phacomatoses |
Title | A case of megalencephalic leukoencephalopathy with subcortical cysts (van der Knaap disease): molecular genetic study |
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