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Journal of Neurology - STUB1 has been first associated with autosomal recessive (SCAR16, MIM# 615768) and later with dominant forms of ataxia (SCA48, MIM# 618093). Pathogenic variations in STUB1...  相似文献   
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Epileptic seizures are due to abnormal synchronized neuronal discharges. Techniques measuring electrical changes are commonly used to analyze seizures. Neuronal activity can be also defined by concomitant hemodynamic and metabolic changes. Simultaneous electroencephalogram (EEG)‐functional MRI (fMRI) measures noninvasively with a high‐spatial resolution BOLD changes during seizures in the whole brain. Until now, only a static image representing the whole seizure was provided. We report in 10 focal epilepsy patients a new approach to dynamic imaging of seizures including the BOLD time course of seizures and the identification of brain structures involved in seizure onset and discharge propagation. The first activation was observed in agreement with the expected location of the focus based on clinical and EEG data (three intracranial recordings), thus providing validity to this approach. The BOLD signal preceded ictal EEG changes in two cases. EEG‐fMRI may detect changes in smaller and deeper structures than scalp EEG, which can only record activity form superficial cortical areas. This method allowed us to demonstrate that seizure onset zone was limited to one structure, thus supporting the concept of epileptic focus, but that a complex neuronal network was involved during propagation. Deactivations were also found during seizures, usually appearing after the first activation in areas close or distant to the activated regions. Deactivations may correspond to actively inhibited regions or to functional disconnection from normally active regions. This new noninvasive approach should open the study of seizure generation and propagation mechanisms in the whole brain to groups of patients with focal epilepsies. Hum Brain Mapp, 2009. © 2009 Wiley‐Liss, Inc.  相似文献   
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Aims. To delineate common epilepsy features associated with the presence of glutamic acid decarboxylase autoantibodies (GAD65‐Ab). Methods. Three consecutive cases of GAD65‐Ab encephalitis patients, followed in our neurological department, were investigated with regards to clinical semiology and EEG. Results. These patients presented new‐onset subtle ictal clinical features. Patients 1 and 2 described prolonged and transitory feelings of “déjà vudéjà vécu” and a “dreamy state”. Patient 3 was admitted for subsequent transient aphasia events followed by paroxysmal behavioural disturbances. Epileptic origin of the symptoms was confirmed using either a standard EEG (observation of temporal status epilepticus in one case) or a prolonged EEG (focal epileptiform activity during an asymptomatic period for two patients). All patients suffered from clinical focal status epilepticus. Patients 1 and 2 presented with temporo‐mesial seizures in agreement with the definition for limbic encephalitis, whereas Patient 3 presented with neocortical (lateral temporal and frontal lobe) seizures arguing for a non‐limbic encephalitis. A high level of GAD65‐Ab was found in cerebral spinal fluid, confirming a diagnosis of epilepsy associated with GAD65‐Ab encephalitis. Conclusion. Encephalitis seems to be a frequent neurological syndrome associated with GAD65‐Ab disorders. Epilepsy may be more frequent and severe than currently suggested, as ictal semiology may be subtle for these outpatients in whom standard EEG is commonly falsely reassuring. Subtle focal status epilepticus is a particular semiology of the GAD65‐Ab encephalitis spectrum.  相似文献   
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The present study describes extraction of high-resolution structural connectome (HRSC) in 99 healthy subjects, acquired and made available by the Human Connectome Project. Single subject connectomes were then registered to the common surface space to allow assessment of inter-individual reproducibility of this novel technique using a leave-one-out approach. The anatomic relevance of the surface-based connectome was examined via a clustering algorithm, which identified anatomic subdivisions within the striatum. The connectivity of these striatal subdivisions were then mapped on the cortical and other subcortical surfaces. Findings demonstrate that HRSC analysis is robust across individuals and accurately models the actual underlying brain networks related to the striatum. This suggests that this method has the potential to model and characterize the healthy whole-brain structural network at high anatomic resolution.  相似文献   
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OBJECTIVE: To examine the effects of a 30 min, 1 Hz subthreshold rTMS in a case of cortical tremor which is caused by hyperexcitability of sensorimotor cortex. METHODS: Stimulation was applied over primary and, in a second time, over premotor cortex (M1 and PMC, respectively). Tremor was monitored by accelerometers placed on the index fingers of hands outstretched, before and several times after rTMS. Each rTMS session consisted of 1800 pulses delivered at 1 Hz with an intensity of 90% of resting motor threshold. RESULTS: PMC but not M1 stimulation led to a decrease of the postural tremor (90% decrease of acceleration total spectral power). This functional benefit was associated to normalization of electrophysiologic parameters (short-interval intracortical inhibition and cortical silent period duration). Moreover, when stimulating PMC during two daily sessions, improvement of the tremor was longer than one day stimulation and this benefit was associated with functional improvement. CONCLUSIONS: This study shows that 1 Hz rTMS over premotor cortex can improve cortical tremor. SIGNIFICANCE: These results raise the interest of the motor cortical stimulation as a possible therapeutic target for treatment of action tremor.  相似文献   
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BACKGROUND: Carcinomatous encephalitis or milary cerebral metastases characterized by signs of diffuse encephalopathy is a rare form of brain metastases. Tiny tumor nodules are seen throughout the cortical and subcortical gray matter. OBSERVATION: We report the case of a patient with a history of non-Hodgkin lymphoma who developed carcinomatous encephalitis probably secondary to small-cell lung cancer. This case is discussed in light of findings of 16 cases of carcinomatous encephalitis reported in the literature. We discuss clinical, radiological, histological, pathophysiological characteristics and the survival of this form. CONCLUSION: The frequency of carcinomatous encephalitis is underestimated because clinical expression is non specific. Brain magnetic resonance imaging must be performed in all patients presenting encephalopathy without an obvious cause.  相似文献   
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