eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | megalencephalic leukoencephalopathy with subcortical cysts |
| Comorbidity | C0270612|leukoencephalopathy |
| Sentences | 11 |
| PubMedID- 21977097 | Though alexander disease, canavan disease, and glutaric aciduria have been considered as differential diagnosis of megalencephalic leukoencephalopathy with subcortical cysts,[7] these conditions are quite unlikely to have such a mild clinical course. |
| PubMedID- 22737209 | This last group of vacuolating ld involves mainly genes expressed in astrocytes such as gfap (glial fibrillary acidic protein) and mlc1 (megalencephalic leukoencephalopathy with subcortical cysts 1) or genes ubiquitously expressed as the five eif2b1-5 genes encoding the general translation eukaryotic initiation factor 2b (eif2b). |
| PubMedID- 24152733 | 3) neither the stability (figure 2d) nor the cellular or cell surface expression of other pm proteins (cftr, sharma et al., 2004; megalencephalic leukoencephalopathy with subcortical cysts 1 [mlc1], duarri et al., 2008; vasopressin 2 receptor [v2r] and dopamine d4 receptor [drd4], apaja et al., 2010) was influenced by ouabain (figure 2d and supplemental figure s1, b and c). |
| PubMedID- 24886907 | Finally, in humans, a loss of clc-2 function and dominant mutations of the gene encoding mlc1, a protein that is also highly abundant in the astrocytic endfeet, cause megalencephalic leukoencephalopathy with subcortical cysts, a disease characterized by chronic brain wm oedema in vacuoles predominantly located within myelin sheaths [34, 35]. |
| PubMedID- 25883547 | The rare leukodystrophy megalencephalic leukoencephalopathy with subcortical cysts (mlc) has recently emerged as a potential brain channelopathy associated to astrocyte dysfunction (van der knaap et al., 2012; lanciotti et al., 2013). |
| PubMedID- 19793339 | Downregulated genes included amyloid beta precursor protein-binding, family a member 2 (apba2); glycoprotein m6a (gpm6a); megalencephalic leukoencephalopathy with subcortical cysts 1 (mlc1); ankyrin repeat and btb domain containing 2 (abtb2); and ring finger protein 43 (rnf43). |
| PubMedID- 20444278 | Five transcripts were present two times; glial fibrillary acidic protein (gfap), the homeobox gene meis1, megalencephalic leukoencephalopathy with subcortical cysts gene 1 (mlc1), non-smc element 1 homolog (nse1), and proteolipid protein 1 (plp) and one transcript was present three times; dead-box protein 17 (dbx17). |
| PubMedID- 21339493 | Teaching neuroimages: megaloencephalic leukoencephalopathy with subcortical cysts (van der knaap disease). |
| PubMedID- 22405205 | megalencephalic leukoencephalopathy with subcortical cysts (mlc) is a rare type of leukodystrophy (van der knaap et al., 1995a) characterized by macrocephaly that appears in the first years of life. |
| PubMedID- 24891910 | An example would be the presence of macrocephaly, which is typically seen in alexander, canavan, and megalencephalic leukoencephalopathy with subcortical cysts (mlc). |
| PubMedID- 22416245 | megalencephalic leukoencephalopathy with subcortical cysts (mlc, omim 604004) is a rare congenital vacuolating leukodystrophy characterized by early-onset macrocephaly at birth or during the first year of life. |
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