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Year Number of Results
2001 2
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Page 1
Leukodystrophies.
Perlman SJ, Mar S. Perlman SJ, et al. Adv Exp Med Biol. 2012;724:154-71. doi: 10.1007/978-1-4614-0653-2_13. Adv Exp Med Biol. 2012. PMID: 22411242 Review.
Though the ultimate diagnosis is not found in many patients with leukodystrophies, distinctive features unique to them aid in diagnosis, treatment and prognostication. The clinical characteristics, etiologies, diagnostic testing and treatment options are reviewed in detail …
Though the ultimate diagnosis is not found in many patients with leukodystrophies, distinctive features unique to them aid in diagnosis, tre …
Megalencephalic leukoencephalopathy with subcortical cysts: the importance of early diagnosis.
Bravo-Oro A, Reyes-Vaca JG, Noriega-Reyes MF, Esmer C. Bravo-Oro A, et al. Bol Med Hosp Infant Mex. 2022;79(2):129-134. doi: 10.24875/BMHIM.21000069. Bol Med Hosp Infant Mex. 2022. PMID: 35468122 Free article. English.
Clinical, radiological, and molecular findings allow diagnostic certainty, the appropriate direction of interventions, and adjustment to the prognosis of each entity. The c.255T>G mutation was previously described in a South American patients, suggesting that it is a sp …
Clinical, radiological, and molecular findings allow diagnostic certainty, the appropriate direction of interventions, and adjustment to the …
Bipolar disorder in megalencephalic leukoencephalopathy with subcortical cysts: a case report.
Ishikawa M, Omachi Y, Sato N, Nakagawa E. Ishikawa M, et al. BMC Psychiatry. 2020 Jul 3;20(1):349. doi: 10.1186/s12888-020-02750-6. BMC Psychiatry. 2020. PMID: 32620087 Free PMC article.
CONCLUSIONS: This case is the first report of bipolar disorder during the clinical course of MLC. This case indicate the possibility that MLC influences the development of bipolar disorder in MLC, however, further studies involving more patients are required to clarify thi …
CONCLUSIONS: This case is the first report of bipolar disorder during the clinical course of MLC. This case indicate the possibility …
Prevalent MLC1 mutation causing autosomal recessive megalencephalic leukoencephalopathy in consanguineous Palestinian families.
Khalaf-Nazzal R, Dweikat I, Maree M, Alawneh M, Barahmeh M, Doulani RT, Qrareya M, Qadi M, Dudin A. Khalaf-Nazzal R, et al. Brain Dev. 2022 Aug;44(7):454-461. doi: 10.1016/j.braindev.2022.03.009. Epub 2022 Apr 16. Brain Dev. 2022. PMID: 35440380
BACKGROUND: Recessive forms of megalencephalic leukoencephalopathy with subcortical cysts (MLC, OMIM 604004) is a rare early-onset leukodystrophy that presents with macrocephaly, seizures, slowly progressive gross motor deterioration, and MRI evidence of diffuse symmetric white m …
BACKGROUND: Recessive forms of megalencephalic leukoencephalopathy with subcortical cysts (MLC, OMIM 604004) is a rare early-onset leukodyst …
Megalencephalic leukoencephalopathy with cysts without MLC1 defect.
van der Knaap MS, Lai V, Köhler W, Salih MA, Fonseca MJ, Benke TA, Wilson C, Jayakar P, Aine MR, Dom L, Lynch B, Kálmánchey R, Pietsch P, Errami A, Scheper GC. van der Knaap MS, et al. Ann Neurol. 2010 Jun;67(6):834-7. doi: 10.1002/ana.21980. Ann Neurol. 2010. PMID: 20517947
Megalencephalic leukoencephalopathy with cysts in twelve Egyptian patients: novel mutations in MLC1 and HEPACAM and a founder effect.
Abdel-Salam GM, Abdel-Hamid MS, Ismail SI, Hosny H, Omar T, Effat L, Aglan MS, Temtamy SA, Zaki MS. Abdel-Salam GM, et al. Metab Brain Dis. 2016 Oct;31(5):1171-9. doi: 10.1007/s11011-016-9861-7. Epub 2016 Jul 7. Metab Brain Dis. 2016. PMID: 27389245
The core phenotype of macrocephaly, subcortical cysts and white matter appeared homogeneous although the patients differed in the onset, clinical course, disease severity and brain imaging findings. Our study expands the spectrum of mutations in MLC1 and HEPACAM and suppor …
The core phenotype of macrocephaly, subcortical cysts and white matter appeared homogeneous although the patients differed in the onset, cli …
Identification in Chinese patients with GLIALCAM mutations of megalencephalic leukoencephalopathy with subcortical cysts and brain pathological study on Glialcam knock-in mouse models.
Shi Z, Yan HF, Cao BB, Guo MM, Xie H, Gao K, Xiao JX, Yang YL, Xiong H, Gu Q, Li M, Wu Y, Jiang YW, Wang JM. Shi Z, et al. World J Pediatr. 2019 Oct;15(5):454-464. doi: 10.1007/s12519-019-00284-w. Epub 2019 Aug 1. World J Pediatr. 2019. PMID: 31372844 Free PMC article.
This study aimed to reveal the clinical and genetic features of MLC patients with GLIALCAM mutations and to explore the brain pathological characteristics and prognosis of mouse models with different modes of inheritance. METHODS: Clinical information and peripheral venous …
This study aimed to reveal the clinical and genetic features of MLC patients with GLIALCAM mutations and to explore the brain pathological c …
Megalencephalic leukoencephalopathy with subcortical cysts in two siblings owing to two novel mutations: case reports and review of the literature.
Riel-Romero RM, Smith CD, Pettigrew AL. Riel-Romero RM, et al. J Child Neurol. 2005 Mar;20(3):230-4. doi: 10.1177/088307380502000301. J Child Neurol. 2005. PMID: 15832614 Review.
Megalencephalic leukoencephalopathy with subcortical cysts is a rare leukodystrophy characterized by macrocephaly and a slowly progressive clinical course marked by spasticity and cognitive decline. We report two full siblings with neuroimaging studies and clinical cour …
Megalencephalic leukoencephalopathy with subcortical cysts is a rare leukodystrophy characterized by macrocephaly and a slowly progressive c …
Molecular genetic studies in Indian patients with megalencephalic leukoencephalopathy.
Shukla P, Gupta N, Ghosh M, Vasisht S, Gulati S, Balakrishnan P, Sharma R, Gupta AK, Kamate M, Kalra V, Kabra M. Shukla P, et al. Pediatr Neurol. 2011 Jun;44(6):450-8. doi: 10.1016/j.pediatrneurol.2011.01.003. Pediatr Neurol. 2011. PMID: 21555057
The mutation c.959C>A was evident in four patients, and appears to be the second commonest mutation. Genotype could not predict phenotype. We recommend screening for the commonest mutation (c.135_136insC), followed by the next commonest mutation (c.959C>A), and then …
The mutation c.959C>A was evident in four patients, and appears to be the second commonest mutation. Genotype could not predict ph …
Indian Agarwal megalencephalic leukodystrophy with cysts is caused by a common MLC1 mutation.
Gorospe JR, Singhal BS, Kainu T, Wu F, Stephan D, Trent J, Hoffman EP, Naidu S. Gorospe JR, et al. Neurology. 2004 Mar 23;62(6):878-82. doi: 10.1212/01.wnl.0000115106.88813.5b. Neurology. 2004. PMID: 15037685
Members of the Agarwal ethnic group affected with the disorder present with a mildly progressive course and show a common mutation (320insC) in the MLC1 gene, suggesting a founder effect....
Members of the Agarwal ethnic group affected with the disorder present with a mildly progressive course and show a common mutation (3 …
29 results