Progressive leukoencephalopathy

Definition:

Progressive leukoencephalopathy a group of inherited disorders of cerebral white matter, characterized by neurologic deterioration consisting of ataxia, spasticity, and cognitive decline. It includes Leukoencephalopathy with vanishing white matter [DS:H00869], Megaloencephalic leukoencephalopathy with subcortical cysts [DS:H00875], and progressive leukoencephalopathy with ovarian failure [DS:H02200].

References:

[1]. Cristina Dallabona, et al. Novel (ovario) leukodystrophy related to AARS2 mutations. Neurology. 2014 Jun 10;82(23):2063-71. [Content Brief]

[2]. Gilles Lyon, et al. Leukodystrophies: clinical and genetic aspects. Top Magn Reson Imaging. 2006 Aug;17(4):219-42. [Content Brief]

[3]. Marianna Bugiani, et al. Leukoencephalopathy with vanishing white matter: a review. J Neuropathol Exp Neurol. 2010 Oct;69(10):987-96. [Content Brief]

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