Megaloencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare leukodystrophy characterized by macrocephaly and a slowly progressive clinical course marked by spasticity and cognitive decline. Magnetic resonance imaging (MRI) shows bilateral extensive white-matter changes with cysts in the temporal regions. Based on the clinical and MRI features, MLC can be distinguished from other conditions (ie, Alexander disease [DS:H00065], Canavan disease [DS:H00074], glutaric acidemia type I [DS:H00178]) that present in infancy with megalencephaly. An autosomal recessive mutations in the MLC1 gene have been shown to cause this condition. Recently, mutations in HEPACAM gene are reported to be associated with MLC.
Leegwater PA, Yuan BQ, van der Steen J, Mulders J, Konst AA, Boor PK, Mejaski-Bosnjak V, van der Maarel SM, Frants RR, Oudejans CB, Schutgens RB, Pronk JC, van der Knaap MS
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Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts.
Lopez-Hernandez T, Ridder MC, Montolio M, Capdevila-Nortes X, Polder E, Sirisi S, Duarri A, Schulte U, Fakler B, Nunes V, Scheper GC, Martinez A, Estevez R, van der Knaap MS
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Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism.
Passchier EMJ, Kerst S, Brouwers E, Hamilton EMC, Bisseling Q, Bugiani M, Waisfisz Q, Kitchen P, Unger L, Breur M, Hoogterp L, de Vries SI, Abbink TEM, Kole MHP, Leurs R, Vischer HF, Brignone MS, Ambrosini E, Feillet F, Born AP, Epstein LG, Mansvelder HD, Min R, van der Knaap MS
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Aquaporin-4 and GPRC5B: old and new players in controlling brain oedema.
