Annals of neurology
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Annals of neurology · Nov 2014
Spreading depression in continuous electroencephalography of brain trauma.
Cortical spreading depolarizations are a pathophysiological mechanism and candidate target for advanced monitoring in acute brain injury. Here we investigated manifestations of spreading depolarization in continuous electroencephalography (EEG) as a broadly applicable, noninvasive method for neuromonitoring. ⋯ Leão's spreading depression can be observed in clinically standard, continuous scalp EEG, and underlying depolarizations can spread widely across the injured cerebral hemisphere. These results open the possibility of monitoring noninvasively a neuronal pathophysiological mechanism in a wide range of disorders including ischemic stroke, subarachnoid hemorrhage, and brain trauma, and suggest a novel application for continuous EEG.
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Annals of neurology · Oct 2014
Spinal cord gray matter atrophy correlates with multiple sclerosis disability.
In multiple sclerosis (MS), cerebral gray matter (GM) atrophy correlates more strongly than white matter (WM) atrophy with disability. The corresponding relationships in the spinal cord (SC) are unknown due to technical limitations in assessing SC GM atrophy. Using phase-sensitive inversion recovery (PSIR) magnetic resonance imaging, we determined the association of the SC GM and SC WM areas with MS disability and disease type. ⋯ SC GM atrophy is detectable in vivo in the absence of WM atrophy in RMS. It is more pronounced in progressive MS than RMS and contributes more to patient disability than SC WM or brain GM atrophy.
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Annals of neurology · Oct 2014
Genetic and phenotypic diversity of NHE6 mutations in Christianson syndrome.
Recently, Christianson syndrome (CS) has been determined to be caused by mutations in the X-linked Na(+) /H(+) exchanger 6 (NHE6). We aimed to determine the diagnostic criteria and mutational spectrum for CS. ⋯ This is the largest cohort of independent CS pedigrees reported. We propose diagnostic criteria for CS. CS represents a novel neurogenetic disorder with general relevance to autism, intellectual disability, Angelman syndrome, epilepsy, and regression.
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Annals of neurology · Sep 2014
Comparative StudyIn vivo imaging of spinal cord atrophy in neuroinflammatory diseases.
Spinal cord atrophy is prominent in chronic progressive neurologic diseases such as human T-cell lymphotropic virus type 1 (HTLV-1)-associated myelopathy/tropical spastic paraparesis (HAM/TSP) and multiple sclerosis (MS). Here we compared the spinal cord cross-sectional area (SCCSA) in HAM/TSP and MS patients to that of healthy volunteers (HVs). ⋯ These results are in accordance with the findings that whereas over half of all lesions in an MS cord are seen in the upper cervical cord, most of the pathology in HAM/TSP is seen in the thoracolumbar cord, which in turn may be responsible for the more extensive cord atrophy seen in HAM/TSP. An imaging marker such as SCCSA might serve as a surrogate endpoint in clinical trials, especially to assess the neuroprotective impact of various therapies.