Asymptomatic cores and paracrystalline mitochondrial inclusions in CADASIL
- 27 August 2002
- journal article
- case report
- Published by Wolters Kluwer Health in Neurology
- Vol. 59 (4) , 617-620
- https://doi.org/10.1212/wnl.59.4.617
Abstract
Three siblings with genetically assessed cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) with core-like lesions and mitochondrial abnormalities in muscles are described. Involvement of the Ryanodine receptor 1 gene was excluded. In the current cases, the relation between molecular genetic lesion and muscle fiber abnormalities remains to be determined, but the Notch3 gene may influence mitochondrial metabolism.Keywords
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