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The latest on leukodystrophies.
Schiffmann R, van der Knaap MS. Schiffmann R, et al. Curr Opin Neurol. 2004 Apr;17(2):187-92. doi: 10.1097/00019052-200404000-00017. Curr Opin Neurol. 2004. PMID: 15021247 Review.
New clinico-imaging syndromes such as hypomyelination with atrophy of the basal ganglia and cerebellum and leukoencephalopathy with brain-stem and spinal cord involvement and elevated white-matter lactate are described. ...SUMMARY: This review focuses on advances in the un …
New clinico-imaging syndromes such as hypomyelination with atrophy of the basal ganglia and cerebellum and leukoencephalopathy with b …
Genotypic and phenotypic characteristics of juvenile/adult onset vanishing white matter: a series of 14 Chinese patients.
Ren Y, Yu X, Chen B, Tang H, Niu S, Wang X, Pan H, Zhang Z. Ren Y, et al. Neurol Sci. 2022 Aug;43(8):4961-4977. doi: 10.1007/s10072-022-06011-0. Epub 2022 Apr 7. Neurol Sci. 2022. PMID: 35389136 Review.
BACKGROUND: Vanishing white matter (VWM) is one of the most prevalent leukoencephalopathies and is caused by recessive mutations in gene eIF2B1-5. ...Diffuse abnormal signals characterized by T1-weighted hypointensity and T2-weighted hyperintensity were observed in the sup …
BACKGROUND: Vanishing white matter (VWM) is one of the most prevalent leukoencephalopathies and is caused by recessive mutations in g …