Annals of neurology
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Annals of neurology · Sep 2007
Prevalence, segregation, and phenotype of the mitochondrial DNA 3243A>G mutation in children.
We studied the prevalence, segregation, and phenotype of the mitochondrial DNA 3243A>G mutation in children in a defined population in Northern Ostrobothnia, Finland. ⋯ The prevalence of 3243A>G is relatively high in the pediatric population, but the morbidity in children is relatively low. The random genetic drift model may be inappropriate for the transmission of the 3243A>G mutation.
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Annals of neurology · Sep 2007
Imaging correlates of axonal swelling in chronic multiple sclerosis brains.
T2-weighted magnetic resonance imaging is a sensitive tool for monitoring progression of multiple sclerosis, but it does not provide information on the severity of the underlying tissue damage. Measurement of T1 hypointensities and magnetization transfer ratio (MTR) can potentially distinguish lesions with more severe tissue damage. The objective of this study was to use image-guided pathology to determine histological differences between lesions that are abnormal only on T2-weighted images versus lesions that are abnormal on T2-weighted, T1-weighted, and MTR images. ⋯ Axonal swelling and axonal loss were major pathological features that distinguish T2T1MTR regions from T2-only regions.