Current opinion in neurology
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Developments in imaging following traumatic brain injury are outlined. Numerous techniques have evolved over the past several years giving us more information about the injury and prognosis for recovery. Some of these techniques are in clinical use while others are used primarily in research but have the potential to become clinically useful. ⋯ CT and MRI are now the imaging techniques for acute and subacute brain injury, respectively. Diffusion tensor imaging is being developed to provide more information on structural damage in brain injury. There are several research techniques available for brain injury, particularly relating to cerebral blood flow and metabolism.
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Here we discuss recent advances regarding the molecular genetic basis of dominantly inherited ataxias. ⋯ The dominant ataxias, also known as spinocerebellar ataxias, continue to grow in number. Here we review the major categories of spinocerebellar ataxias: expanded polyglutamine ataxias; noncoding repeat ataxias; and ataxias caused by conventional mutations. After discussing features shared by these disorders, we present recent evidence supporting a toxic protein mechanism for the polyglutamine spinocerebellar ataxias and the recognition that both protein misfolding and perturbations in nuclear events represent key events in pathogenesis. Less is known about pathogenic mechanisms in spinocerebellar ataxias due to noncoding repeats, though a toxic RNA effect remains possible. Newly discovered, conventional mutations in spinocerebellar ataxias suggest a wide range of biological pathways can be disrupted to cause progressive ataxia. Finally, we discuss how new mechanistic insights can drive the push toward preventive treatment.