Asymptomatic cores and paracrystalline mitochondrial inclusions in CADASIL.
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
A
Istituto Scienze Neurologiche, Università di Siena, Italy. malandrini@unisi.it
Albani
F
F
Palmeri
S
S
Fattapposta
F
F
Gambelli
S
S
Berti
G
G
Bracco
A
A
Tammaro
A
A
Calzavara
S
S
Villanova
M
M
Ferrari
M
M
Rossi
A
A
Carrera
P
P
D001706:Biopsy; D003402:Creatine Kinase / Q000097:blood; D004252:DNA Mutational Analysis; D015161:Dementia, Multi-Infarct / Q000097:blood / Q000235:genetics / Q000473:pathology*; D005260:Female; D005799:Genes, Dominant; D005819:Genetic Markers; D005838:Genotype; D006801:Humans; D002479:Inclusion Bodies / Q000473:pathology* / Q000648:ultrastructure; D008297:Male; D008875:Middle Aged; D008931:Mitochondria, Muscle / Q000473:pathology* / Q000648:ultrastructure; D018482:Muscle, Skeletal / Q000473:pathology* / Q000648:ultrastructure; D020125:Mutation, Missense; D010375:Pedigree; D011518:Proto-Oncogene Proteins / Q000235:genetics; D000071656:Receptor, Notch3; D011956:Receptors, Cell Surface; D051880:Receptors, Notch; D019837:Ryanodine Receptor Calcium Release Channel / Q000235:genetics
D005819:Genetic Markers; C499374:NOTCH3 protein, human; D011518:Proto-Oncogene Proteins; D000071656:Receptor, Notch3; D011956:Receptors, Cell Surface; D051880:Receptors, Notch; D019837:Ryanodine Receptor Calcium Release Channel; D003402:Creatine Kinase