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.
Malandrini, A., Albani, F., Palmeri, S., Fattapposta, F., Gambelli, S., Berti, G., et al. (2002). Asymptomatic cores and paracrystalline mitochondrial inclusions in CADASIL. NEUROLOGY, 59(4), 617-620 [10.1212/WNL.59.4.617].
Asymptomatic cores and paracrystalline mitochondrial inclusions in CADASIL.
MALANDRINI, ALESSANDRO;PALMERI, SILVIA;ROSSI, ALESSANDRO;
2002-01-01
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.
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https://hdl.handle.net/11365/19229