Carotid Endarterectomy within Seven Days after the Neurological Index Event is Safe and Effective in Stroke Prevention

AbstractBackgroundTiming of surgery remains a controversial subject with some concerns persisting that the benefit of early carotid endarterectomy (CEA) offsets the perioperative risks. We investigated the neurological outcome of patients with symptomatic internal carotid artery (ICA) stenosis after surgery in relation to the timing of treatment.MethodsFrom January 2005 to June 2010, 468 patients (n = 349 male, 74.6%, median age 71 years) underwent CEA for symptomatic stenosis. Perioperative morbidity and mortality rates were assessed in the 30 days’ follow-up.ResultsThe median time interval between index event and CEA was 7 days; the overall stroke and death rate reached 3.4%. There was no difference in the 30 days’ rate of stroke /death rate, depending on the timing of surgery (n = 5/241, 2.1% in patients treated within 1 week vs. n = 10/215, 4.7% in patients treated thereafter, p = 0.12). Patients with a postoperative neurological deterioration had more often an ischaemic infarction on preoperative cerebral computed tomography (CCT) compared with those without deterioration (n = 6/15, 40.0% vs. n = 39/441, 9.0%, p = 0.003). Logistic regression analysis showed that patients with preoperative infarction on CCT had the highest risk for postoperative neurological deterioration.ConclusionAn infarction on the preoperative CCT leads to an increased risk for a postoperative deterioration after CEA. Patients should be treated at an early point in time with bland CCTs

Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

Hereditary spastic paraplegias (HSPs) are neurodegenerative motor neuron diseases characterized by progressive age-dependent loss of corticospinal motor tract function. Although the genetic basis is partly understood, only a fraction of cases can receive a genetic diagnosis, and a global view of HSP is lacking. By using whole-exome sequencing in combination with network analysis, we identified 18 previously unknown putative HSP genes and validated nearly all of these genes functionally or genetically. The pathways highlighted by these mutations link HSP to cellular transport, nucleotide metabolism, and synapse and axon development. Network analysis revealed a host of further candidate genes, of which three were mutated in our cohort. Our analysis links HSP to other neurodegenerative disorders and can facilitate gene discovery and mechanistic understanding of disease