Journal of neurology, neurosurgery, and psychiatry
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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
Increased functional connectivity common to symptomatic amyotrophic lateral sclerosis and those at genetic risk.
To discern presymptomatic changes in brain structure or function using advanced MRI in carriers of mutations predisposing to amyotrophic lateral sclerosis (ALS). ⋯ Rather than structural brain changes, increased FC may be among the earliest detectable brain abnormalities in asymptomatic carriers of ALS-causing gene mutations. With replication and significant refinement, this technique has potential in the future assessment of neuroprotective strategies.
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J. Neurol. Neurosurg. Psychiatr. · Jun 2016
Parkinson's disease without nigral degeneration: a pathological correlate of scans without evidence of dopaminergic deficit (SWEDD)?
To describe 5 cases of Parkinson's disease lacking any detectable histopathology. ⋯ Striatal dopamine deficiency without nigral cell loss is the most likely explanation for the clinical findings; other possible explanations include slowness due to comorbidities misinterpreted as bradykinesia, a tardive syndrome related to undisclosed previous neuroleptic exposure, or 'soft age-related' parkinsonian signs. These cases emphasise the need to regularly review the diagnosis in cases of suspected Parkinson's disease and highlight the need for precision in the neurological examination particularly of elderly patients. These cases may represent a distinct entity of diagnostic exclusion and may be considered one explanation for the radiological phenomenon of SWEDD (scans without evidence of dopaminergic deficit).
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J. Neurol. Neurosurg. Psychiatr. · Jun 2016
Management of spontaneous intracranial hypotension - Transorbital ultrasound as discriminator.
Spontaneous intracranial hypotension (SIH) is most commonly caused by cerebrospinal fluid (CSF) leakage. Therefore, we hypothesised that patients with orthostatic headache (OH) would show decreased optic nerve sheath diameter (ONSD) during changes from supine to upright position. ⋯ Symptomatic patients with SIH showed a significant decrease of ONSD, as assessed by ultrasound, when changing from the supine to the upright position. Ultrasound assessment of the ONSD in two positions may be a novel, non-invasive tool for the diagnosis and follow-up of SIH and for elucidating the pathophysiology of SIH.
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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.