Journal of neurology, neurosurgery, and psychiatry
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J. Neurol. Neurosurg. Psychiatr. · Jun 2016
Multicenter StudyA large-scale multicentre cerebral diffusion tensor imaging study in amyotrophic lateral sclerosis.
Damage to the cerebral tissue structural connectivity associated with amyotrophic lateral sclerosis (ALS), which extends beyond the motor pathways, can be visualised by diffusion tensor imaging (DTI). The effective translation of DTI metrics as biomarker requires its application across multiple MRI scanners and patient cohorts. A multicentre study was undertaken to assess structural connectivity in ALS within a large sample size. ⋯ This large-scale study overcomes the challenges associated with processing and analysis of multiplatform, multicentre DTI data, and effectively demonstrates the anatomical fingerprint patterns of changes in a DTI metric that reflect distinct ALS disease stages. This success paves the way for the use of DTI-based metrics as read-out in natural history, prognostic stratification and multisite disease-modifying studies in ALS.
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J. Neurol. Neurosurg. Psychiatr. · Jun 2016
Observational StudyPredictive value of transcranial evoked potentials during mechanical endovascular therapy for acute ischaemic stroke: a feasibility study.
Mechanical endovascular therapy (MET) is a promising adjuvant or stand-alone therapy for acute ischaemic stroke caused by occlusion of a large vessel. Real-time monitoring of recanalisation success with regard to functional outcome is usually not possible because these procedures are mainly performed under general anaesthesia. We present a novel application for evoked potential monitoring for real-time evaluation of reperfusion success with respect to functional outcome during MET for acute ischaemic stroke. ⋯ MEPs and SSEPs are safe and feasible methods of real-time monitoring of reperfusion success with respect to functional outcome during MET for acute ischaemic stroke.
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J. Neurol. Neurosurg. Psychiatr. · Jun 2016
A homozygous mutation of VWA3B causes cerebellar ataxia with intellectual disability.
Hereditary cerebellar ataxia constitutes a heterogeneous group of neurodegenerative disorders, occasionally accompanied by other neurological features. Genetic defects remain to be elucidated in approximately 40% of hereditary cerebellar ataxia cases in Japan. We attempted to identify the gene responsible for autosomal recessive cerebellar ataxia with intellectual disability. ⋯ Mutated VWA3B was found to be likely associated with cerebellar degeneration with intellectual disability. Although a rare cause of cerebellar degeneration, these findings indicate a critical role for VWA3B in the apoptosis pathway in neuronal tissues.