Annals of neurology
-
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.
-
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.
-
In childhood, the risk for seizures is greatest in the neonatal period. Currently used therapies have limited efficacy. Although the treatment of neonatal seizures has not significantly changed in the past several decades, there has been substantial progress in understanding developmental mechanisms that influence seizure generation and responsiveness to anticonvulsants. This review includes an overview of current approaches to the diagnosis and treatment of neonatal seizures, identifies some of the critical factors that have limited progress, and highlights recent insights about the pathophysiology of neonatal seizures that may provide the foundation for better treatment.
-
Annals of neurology · Aug 2007
Selective early cardiolipin peroxidation after traumatic brain injury: an oxidative lipidomics analysis.
Enhanced lipid peroxidation is well established in traumatic brain injury. However, its molecular targets, identity of peroxidized phospholipid species, and their signaling role have not been deciphered. ⋯ The temporal sequence combined with the recently demonstrated role of CL hydroperoxides (CL-OOH) in in vitro models of apoptosis suggest that CL-OOH may be both a key in vivo trigger of apoptotic cell death and a therapeutic target in experimental traumatic brain injury.
-
A recent study using surface-enhanced laser desorption/ionization time-of-flight analysis of cerebrospinal fluid identified a 12.5 kDa truncated isoform of cystatin C (CysC) as a specific biomarker for multiple sclerosis (MS). ⋯ The 12.5 kDa CysC isoform is a storage-related artifact and is not useful as a diagnostic marker for MS.