Megalencephalic Leukoencephalopathy with Cysts without MLC1 Defect Two Phenotypes

M.S. van der Knaap; V. Lai; W. Kohler; M.A. Salih; M.J. Fonseca; T.A. Benke; C. Wilson; P. Jayakar; M.R. Aine; L. Dom; B. Lynch; R. Kalmanchey; P. Pietsch; A. Errami; G.C. Scheper; Wolfgang Köhler

doi:https://doi.org/10.1002/ana.21980

Megalencephalic Leukoencephalopathy with Cysts without MLC1 Defect Two Phenotypes

M.S. van der Knaap, V. Lai, W. Kohler, M.A. Salih, M.J. Fonseca, T.A. Benke, C. Wilson, P. Jayakar, M.R. Aine, L. Dom, B. Lynch, R. Kalmanchey, P. Pietsch, A. Errami, G.C. Scheper, Wolfgang Köhler

Pediatric surgery (VUmc)

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Abstract

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is an autosomal recessive disease characterized by early infantile macrocephaly and delayed motor and cognitive deterioration. Magnetic resonance imaging (MRI) shows diffusely abnormal and swollen cerebral white matter and subcortical cysts. On follow-up, atrophy ensues. Approximately 80% of MLC patients have mutations in MLC1. We report 16 MLC patients without MLC1 mutations. Eight retained the classical clinical and MRI phenotype. The other 8 showed major MRI improvement. They lacked motor decline. Five had normal intelligence; 3 displayed cognitive deficiency. In conclusion, 2 phenotypes can be distinguished among the non-MLC1 mutated MLC patients: a classical and a benign phenotype

Original language	English
Pages (from-to)	834-837
Journal	Annals of neurology
Volume	67
Issue number	6
DOIs	https://doi.org/10.1002/ana.21980
Publication status	Published - 2010

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van der Knaap, M. S., Lai, V., Kohler, W., Salih, M. A., Fonseca, M. J., Benke, T. A., Wilson, C., Jayakar, P., Aine, M. R., Dom, L., Lynch, B., Kalmanchey, R., Pietsch, P., Errami, A., Scheper, G. C., & Köhler, W. (2010). Megalencephalic Leukoencephalopathy with Cysts without MLC1 Defect Two Phenotypes. Annals of neurology, 67(6), 834-837. https://doi.org/10.1002/ana.21980

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abstract = "Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is an autosomal recessive disease characterized by early infantile macrocephaly and delayed motor and cognitive deterioration. Magnetic resonance imaging (MRI) shows diffusely abnormal and swollen cerebral white matter and subcortical cysts. On follow-up, atrophy ensues. Approximately 80% of MLC patients have mutations in MLC1. We report 16 MLC patients without MLC1 mutations. Eight retained the classical clinical and MRI phenotype. The other 8 showed major MRI improvement. They lacked motor decline. Five had normal intelligence; 3 displayed cognitive deficiency. In conclusion, 2 phenotypes can be distinguished among the non-MLC1 mutated MLC patients: a classical and a benign phenotype",

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T1 - Megalencephalic Leukoencephalopathy with Cysts without MLC1 Defect Two Phenotypes

AU - van der Knaap, M.S.

AU - Lai, V.

AU - Kohler, W.

AU - Salih, M.A.

AU - Fonseca, M.J.

AU - Benke, T.A.

AU - Wilson, C.

AU - Jayakar, P.

AU - Aine, M.R.

AU - Dom, L.

AU - Lynch, B.

AU - Kalmanchey, R.

AU - Pietsch, P.

AU - Errami, A.

AU - Scheper, G.C.

AU - Köhler, Wolfgang

PY - 2010

Y1 - 2010

N2 - Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is an autosomal recessive disease characterized by early infantile macrocephaly and delayed motor and cognitive deterioration. Magnetic resonance imaging (MRI) shows diffusely abnormal and swollen cerebral white matter and subcortical cysts. On follow-up, atrophy ensues. Approximately 80% of MLC patients have mutations in MLC1. We report 16 MLC patients without MLC1 mutations. Eight retained the classical clinical and MRI phenotype. The other 8 showed major MRI improvement. They lacked motor decline. Five had normal intelligence; 3 displayed cognitive deficiency. In conclusion, 2 phenotypes can be distinguished among the non-MLC1 mutated MLC patients: a classical and a benign phenotype

AB - Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is an autosomal recessive disease characterized by early infantile macrocephaly and delayed motor and cognitive deterioration. Magnetic resonance imaging (MRI) shows diffusely abnormal and swollen cerebral white matter and subcortical cysts. On follow-up, atrophy ensues. Approximately 80% of MLC patients have mutations in MLC1. We report 16 MLC patients without MLC1 mutations. Eight retained the classical clinical and MRI phenotype. The other 8 showed major MRI improvement. They lacked motor decline. Five had normal intelligence; 3 displayed cognitive deficiency. In conclusion, 2 phenotypes can be distinguished among the non-MLC1 mutated MLC patients: a classical and a benign phenotype

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