Annals of neurology
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Annals of neurology · May 2015
Observational StudyNeuroanatomical predictors of awakening in acutely comatose patients.
Lateral brain displacement has been associated with loss of consciousness and poor outcome in a range of acute neurologic disorders. We studied the association between lateral brain displacement and awakening from acute coma. ⋯ Reversal and/or limitation of lateral brain displacement are associated with acute awakening in comatose patients. These findings suggest objective parameters to guide prognosis and treatment in patients with acute onset of coma.
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Annals of neurology · Apr 2015
Randomized Controlled Trial Multicenter Study Comparative StudyDifferential effects of deep brain stimulation target on motor subtypes in Parkinson's disease.
The Veterans Administration Cooperative Studies Program #468, a multicenter study that randomized Parkinson's disease (PD) patients to either subthalamic nucleus (STN) or globus pallidus internus (GPi) deep brain stimulation (DBS), found that stimulation at either target provided similar overall motoric benefits. We conducted an additional analysis of this data set to evaluate whether PD motor subtypes responded differently to the 2 stimulation targets. ⋯ Our results suggest that responsiveness to both GPi and STN DBS is similar among different PD motor subtypes, although the TD motor subtype may have a greater response to GPi DBS with respect to gait. PIGD patients obtained less overall benefit from stimulation.
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Annals of neurology · Apr 2015
Genetic modifiers of ambulation in the Cooperative International Neuromuscular Research Group Duchenne Natural History Study.
We studied the effects of LTBP4 and SPP1 polymorphisms on age at loss of ambulation (LoA) in a multiethnic Duchenne muscular dystrophy (DMD) cohort. ⋯ SPP1 rs28357094 acts as a pharmacodynamic biomarker of GC response, and LTBP4 haplotype modifies age at LoA in the CINRG-DNHS cohort. Adjustment for GC treatment and population stratification appears crucial in assessing genetic modifiers in DMD.
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Annals of neurology · Apr 2015
Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia.
Focal malformations of cortical development, including focal cortical dysplasia (FCD) and hemimegalencephaly (HME), are important causes of intractable childhood epilepsy. Using targeted and exome sequencing on DNA from resected brain samples and nonbrain samples from 53 patients with FCD or HME, we identified pathogenic germline and mosaic mutations in multiple PI3K/AKT pathway genes in 9 patients, and a likely pathogenic variant in 1 additional patient. Our data confirm the association of DEPDC5 with sporadic FCD but also implicate this gene for the first time in HME. Our findings suggest that modulation of the mammalian target of rapamycin pathway may hold promise for malformation-associated epilepsy.
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Annals of neurology · Mar 2015
Multicenter Study Clinical Trial Observational StudyMechanical recanalization in basilar artery occlusion: the ENDOSTROKE study.
A study was undertaken to evaluate clinical and procedural factors associated with outcome and recanalization in endovascular stroke treatment (EVT) of basilar artery (BA) occlusion. ⋯ Beside initial stroke severity, the collateral status predicts clinical outcome and recanalization in BA occlusion. Our data suggest that the use of a stent retriever is associated with high recanalization rates, but recanalization on its own does not predict outcome. The role of other modifiable factors, including the choice of pretreatment imaging modality and time issues, warrants further investigation.