Asymptomatic cores and paracrystalline mitochondrial inclusions in CADASIL.
Neurology
; 59(4): 617-20, 2002 Aug 27.
Article
in En
| MEDLINE
| ID: mdl-12196662
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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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Dementia, Multi-Infarct
/
Inclusion Bodies
/
Receptors, Cell Surface
/
Muscle, Skeletal
/
Mitochondria, Muscle
Limits:
Female
/
Humans
/
Male
/
Middle aged
Language:
En
Journal:
Neurology
Year:
2002
Type:
Article
Affiliation country:
Italy