Journal of neurology
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Journal of neurology · Apr 2019
Clinical and neuroimaging investigations of language disturbance in frontotemporal dementia-motor neuron disease patients.
This study systematically investigated the neuropsychological profile of language disturbance in frontotemporal dementia-motor neuron disease (FTD-MND) using a data-driven approach. Neuroanatomical correlates of language profiles were also examined. Patients with FTD-MND (N = 26), pure motor neuron disease (N = 34), progressive non-fluent aphasia (N = 30), semantic dementia (N = 17), and controls (N = 31) underwent comprehensive language assessments. ⋯ In conclusion, language disturbances in FTD-MND are heterogeneous and more mixed than seen in FTD language phenotypes. Atrophy of the caudate and putamen was correlated with disproportionate impairment of syntactic comprehension. A pure semantic dementia like syndrome appears to be rare in FTD-MND.
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Journal of neurology · Apr 2019
Transient seizure onset network for localization of epileptogenic zone: effective connectivity and graph theory-based analyses of ECoG data in temporal lobe epilepsy.
Abnormal and dynamic epileptogenic networks cause difficulties for clinical epileptologists in the localization of the seizure onset zone (SOZ) and the epileptogenic zone (EZ) in preoperative assessments of patients with refractory epilepsy. The aim of this study is to investigate the characteristics of time-varying effective connectivity networks in various non-seizure and seizure periods, and to propose a quantitative approach for accurate localization of SOZ and EZ. ⋯ The high temporal resolution ffADTF effective connectivity analysis combined with the graph theoretical analysis helps us to understand how epileptic activity is generated and propagated during the seizure period. The newly discovered seizure-specific transient seizure onset network could be an important biomarker and a promising tool for more precise localization of the SOZ and EZ in preoperative evaluations.
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Journal of neurology · Apr 2019
Multicenter StudyThe histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations.
The histopathological features of malignant hyperthermia (MH) and non-anaesthetic (mostly exertional) rhabdomyolysis (RM) due to RYR1 mutations have only been reported in a few cases. ⋯ Patients with RYR1-related MH and RM exhibit a similar histopathological spectrum, ranging from mild myopathic changes to cores and other features typical of RYR1-related congenital myopathies. Suggestive histopathological features may support RYR1 involvement, also in cases where the in vitro contracture test is not informative.