Journal of neurology, neurosurgery, and psychiatry
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J. Neurol. Neurosurg. Psychiatr. · Aug 2010
Case ReportsA wide spectrum of clinical, neurophysiological and neuroradiological abnormalities in a family with a novel CACNA1A mutation.
Mutations in the calcium channel voltage dependent P/Q-type alpha-1A subunit (CACNA1A) can cause different neurological disorders which share a wide range of symptoms, including episodic ataxia type 2 (EA2), familial hemiplegic migraine (FHM1) and progressive spinocerebellar ataxia (SCA6). ⋯ This novel CACNA1A mutation adds to the number of mutations associated with a heterogeneous clinical picture in family members. This mutation might affect the interaction between the intracellular loops and the beta subunit, leading to a relatively rapid cell death. In order to explain the wide phenotypic variability observed in this family, it is hypothesised that additional genetic and environmental (hormonal) factors play a role in the pathophysiology of the disease.
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J. Neurol. Neurosurg. Psychiatr. · Aug 2010
Predictors and long-term outcome of seizures after bacterial brain abscess.
Seizures are one of the most important neurological complications of bacterial brain abscesses. A better understanding of the risk factors of seizures following bacterial brain abscesses is needed to predict those who will require treatment. ⋯ Cox's proportional hazards model demonstrated that valvular heart diseases as the underlying diseases and the presence of a fronto-parietal distribution of bacterial brain abscess were independently predictive of seizures, and the presence of late seizures was predictive of developing epilepsy. Most first seizures occurred within 3 y after bacterial brain abscesses.
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J. Neurol. Neurosurg. Psychiatr. · Aug 2010
Molecular imaging in the diagnosis of Alzheimer's disease: visual assessment of [11C]PIB and [18F]FDDNP PET images.
To evaluate visual assessment of [(11)C]PIB and [(18)F]FDDNP PET images as potential supportive diagnostic markers for Alzheimer's disease (AD). ⋯ Visual assessment of [(11)C]PIB images was straightforward and accurate, showing promise as a supportive diagnostic marker for AD. Moreover, [(11)C]PIB showed the best combination of sensitivity and specificity. Visual assessment of [(18)F]FDDNP images was insufficient. The quantitative analysis of [(18)F]FDDNP data showed a considerably higher diagnostic value than the visual analysis.
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J. Neurol. Neurosurg. Psychiatr. · Aug 2010
Cortex-sparing infarctions in patients with occlusion of the middle cerebral artery.
In patients with a middle cerebral artery (MCA) occlusion, the involvement of the cortex may be affected by the presence of leptomeningeal anastomoses between the cerebral arteries. ⋯ This study suggests that pre-existing arteriolar connections, which may cover almost entire cortical surfaces of the MCA territory, exist in many patients. The findings also suggest that the extent of cortical involvement is different between stroke subtypes, and is critically affected by the status of upstream collateral arteries.
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J. Neurol. Neurosurg. Psychiatr. · Aug 2010
EEG correlated functional MRI and postoperative outcome in focal epilepsy.
The main challenge in assessing patients with epilepsy for resective surgery is localising seizure onset. Frequently, identification of the irritative and seizure onset zones requires invasive EEG. EEG correlated functional MRI (EEG-fMRI) is a novel imaging technique which may provide localising information with regard to these regions. In patients with focal epilepsy, interictal epileptiform discharge (IED) correlated blood oxygen dependent level (BOLD) signal changes were observed in approximately 50% of patients in whom IEDs are recorded. In 70%, these are concordant with expected seizure onset defined by non-invasive electroclinical information. Assessment of clinical validity requires post-surgical outcome studies which have, to date, been limited to case reports of correlation with intracranial EEG. The value of EEG-fMRI was assessed in patients with focal epilepsy who subsequently underwent epilepsy surgery, and IED correlated fMRI signal changes were related to the resection area and clinical outcome. ⋯ These results show the potential value of EEG-fMRI in presurgical evaluation.