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.
Istituto Scienze Neurologiche, Università di Siena, Italy. malandrini@unisi.it
A
A
Malandrini
F
F
Albani
S
S
Palmeri
F
F
Fattapposta
S
S
Gambelli
G
G
Berti
A
A
Bracco
A
A
Tammaro
S
S
Calzavara
M
M
Villanova
M
M
Ferrari
A
A
Rossi
P
P
Carrera
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