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Page 1
[Progressive cavitating leukoencephalopathy: four cases and literatures review].
Ren CH, Fang F, Cheng H, Ding CH, Chen CH, Zhang YJ, Shen DM. Ren CH, et al. Zhonghua Er Ke Za Zhi. 2017 Apr 2;55(4):283-287. doi: 10.3760/cma.j.issn.0578-1310.2017.04.010. Zhonghua Er Ke Za Zhi. 2017. PMID: 28441825 Review. Chinese.
Objective: To analyze the clinical and genetic features of progressive cavitating leukoencephalopathy (PCL). Method: The data of clinical and genetic features of 4 PCL patients diagnosed by Beijing Children's Hospital between January 2015 and January 2016 wer …
Objective: To analyze the clinical and genetic features of progressive cavitating leukoencephalopathy (PCL). Method: Th …
Novel IBA57 mutations in two chinese patients and literature review of multiple mitochondrial dysfunction syndrome.
Zhan F, Liu X, Ni R, Liu T, Cao Y, Wu J, Tian W, Luan X, Cao L. Zhan F, et al. Metab Brain Dis. 2022 Feb;37(2):311-317. doi: 10.1007/s11011-021-00856-8. Epub 2021 Oct 28. Metab Brain Dis. 2022. PMID: 34709542 Review.
Herein, detailed clinical investigation of 2 Chinese patients from two unrelated families were described, both of them showed mildly delay in developmental milestone before disease onset, the initial symptoms were all presented with acute motor and mental retrogression, an …
Herein, detailed clinical investigation of 2 Chinese patients from two unrelated families were described, both of them showed mildly delay i …
The large spectrum of eIF2B-related diseases.
Fogli A, Boespflug-Tanguy O. Fogli A, et al. Biochem Soc Trans. 2006 Feb;34(Pt 1):22-9. doi: 10.1042/BST20060022. Biochem Soc Trans. 2006. PMID: 16246171 Review.
The syndrome is characterized by episodes of rapid deterioration during febrile illnesses or following head trauma and symmetrical demyelination of the brain white matter with cavitation aspects, leading to a progressive vanishing of the white matter replaced by CSF …
The syndrome is characterized by episodes of rapid deterioration during febrile illnesses or following head trauma and symmetrical demyelina …
Notch Pathway and Inherited Diseases: Challenge and Promise.
Reichrath J, Reichrath S. Reichrath J, et al. Adv Exp Med Biol. 2020;1218:159-187. doi: 10.1007/978-3-030-34436-8_9. Adv Exp Med Biol. 2020. PMID: 32060876 Review.
Consequently, a broad variety of independent inherited diseases linked to defective Notch signaling has now been identified, including Alagille, Adams-Oliver, and Hajdu-Cheney syndromes, CADASIL (cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencep …
Consequently, a broad variety of independent inherited diseases linked to defective Notch signaling has now been identified, including Alagi …
[CACH/VWM syndrome and leucodystrophies related to EIF2B mutations].
Labauge P, Fogli A, Niel F, Rodriguez D, Boespflug-Tanguy O. Labauge P, et al. Rev Neurol (Paris). 2007 Sep;163(8-9):793-9. doi: 10.1016/s0035-3787(07)91461-7. Rev Neurol (Paris). 2007. PMID: 17878805 Review. French.
Classically, this disease is characterized by (1) an onset between 2 and 5 years of age, with a cerebello-spastic syndrome exacerbated by episodes of fever or head trauma leading to death after 5 to 10 years of disease evolution, (2) a diffuse involvement of the whi …
Classically, this disease is characterized by (1) an onset between 2 and 5 years of age, with a cerebello-spastic syndrome exacerbate …