Leukoencephalopathy with calcification and cysts: A cerebral microangiopathy caused by mutations in SNORD118

Published:October 24, 2016DOI:
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        • Wang M.
        • Zhang M.
        • Wu L.
        • et al.
        Leukoencephalopathy with cerebral calcification and cysts: cases report and literature review.
        J. Neurol. Sci. 2016; 370: 173-179
        • Labrune P.
        • Lacroix C.
        • Goutieres F.
        • et al.
        Extensive brain calcifications, leukodystrophy, and formation of parenchymal cysts: a new progressive disorder due to diffuse cerebral microangiopathy.
        Neurology. 1996; 46: 1297-1301
        • Livingston J.H.
        • Mayer J.
        • Jenkinson E.
        • et al.
        Leukoencephalopathy with calcifications and cysts: a purely neurological disorder distinct from coats plus.
        Neuropediatrics. 2014; 45: 175-182
        • Anderson B.H.
        • Kasher P.R.
        • Mayer J.
        • et al.
        Mutations in CTC1, encoding conserved telomere maintenance component 1, cause coats plus.
        Nat. Genet. 2012; 44: 338-342
        • Jenkinson E.M.
        • Rodero M.P.
        • Kasher P.R.
        • et al.
        Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.
        Nat. Genet. 2016; 48: 1185-1192