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1.
Objective/backgroundCore body temperature (CBT) is considered a valuable marker for circadian rhythm. This study aimed to investigate the changes in CBT that are associated with the symptoms of circadian rhythm sleep–wake disorder (CRSWD) post-treatment in children.Patients/methodsTwenty-eight school-age children [10 boys and 18 girls; mean age (±standard deviation), 13.68 ± 0.93 years] who were admitted to our hospital with CRSWD underwent treatment for 6–8 weeks according to the following protocol: lights-out for sleep at 21:00; phototherapy for waking at 6:00 or 7:00; light exercise everyday (eg, a 20- to 30-min walk). CBT was continuously measured for 24 h on the first day of admission and on the first day after treatment.ResultsThe mean time of sleep onset/offset (±standard deviation; in hours:minutes) 1 week before admission and 1 week after treatment were 23:53 ± 2:26/9:58 ± 2:15 and 21:17 ± 0:19/6:46 ± 0:32, respectively. The mean times of sleep onset and offset measured post-treatment were significantly earlier than those measured pre-treatment (p < 0.001). The mean CBT and mean minimum CBT during sleep were significantly lower on the first day post-treatment than on the first day of admission (p = 0.011 and p < 0.001, respectively).ConclusionsSymptom improvements in patients with CRSWD were associated with a decrease in CBT during sleep, suggesting that CBT may be a biomarker for improvements in CRSWD. These results help elucidate the cause of this sleep disorder.  相似文献   

2.
《Brain stimulation》2019,12(6):1490-1499
BackgroundCortical oscillatory activities play a role in regulating several brain functions in humans. However, whether motor resonant oscillations (i.e. β and γ) modulate long-term depression (LTD)-like plasticity of the primary motor cortex (M1) is still unclear.ObjectiveTo address this issue, we combined transcranial alternating current stimulation (tACS), a technique able to entrain cortical oscillations, with continuous theta burst stimulation (cTBS), a transcranial magnetic stimulation (TMS) protocol commonly used to induce LTD-like plasticity in M1.MethodsMotor evoked potentials (MEPs) elicited by single-pulse TMS, short-interval intracortical inhibition (SICI) and intracortical facilitation (ICF) were evaluated before and 5, 15 and 30 min after cTBS alone or cTBS delivered during β-tACS (cTBS-β) or γ-tACS (cTBS-γ). Moreover, we tested the effects of β-tACS (alone) on short-latency afferent inhibition (SAI) and γ-tACS on SICI in order to verify whether tACS-related interneuronal modulation contributes to the effects of tACS-cTBS co-stimulation.ResultscTBS-γ turned the expected after-effects of cTBS from inhibition to facilitation. By contrast, responses to cTBS-β were similar to those induced by cTBS alone. β- and γ-tACS did not change MEPs evoked by single-pulse TMS. β-tACS reduced SAI and γ-tACS reduced SICI. However, the degree of γ-tACS-induced modulation of SICI did not correlate with the effects of cTBS-γ.Conclusionγ-tACS reverses cTBS-induced plasticity of the human M1. γ-oscillations may therefore regulate LTD-like plasticity mechanisms.  相似文献   

3.
    
《Brain stimulation》2021,14(4):807-821
BackgroundDeep brain stimulation is an established therapy for several neurological disorders; however, its effects on neuronal activity vary across brain regions and depend on stimulation settings. Understanding these variable responses can aid in the development of physiologically-informed stimulation paradigms in existing or prospective indications.ObjectiveProvide experimental and computational insights into the brain-region-specific and frequency-dependent effects of extracellular stimulation on neuronal activity.MethodsIn patients with movement disorders, single-neuron recordings were acquired from the subthalamic nucleus, substantia nigra pars reticulata, ventral intermediate nucleus, or reticular thalamus during microstimulation across various frequencies (1–100 Hz) to assess single-pulse and frequency-response functions. Moreover, a biophysically-realistic computational framework was developed which generated postsynaptic responses under the assumption that electrical stimuli simultaneously activated all convergent presynaptic inputs to stimulation target neurons. The framework took into consideration the relative distributions of excitatory/inhibitory afferent inputs to model site-specific responses, which were in turn embedded within a model of short-term synaptic plasticity to account for stimulation frequency-dependence.ResultsWe demonstrated microstimulation-evoked excitatory neuronal responses in thalamic structures (which have predominantly excitatory inputs) and inhibitory responses in basal ganglia structures (predominantly inhibitory inputs); however, higher stimulation frequencies led to a loss of site-specificity and convergence towards neuronal suppression. The model confirmed that site-specific responses could be simulated by accounting for local neuroanatomical/microcircuit properties, while suppression of neuronal activity during high-frequency stimulation was mediated by short-term synaptic depression.ConclusionsBrain-region-specific and frequency-dependant neuronal responses could be simulated by considering neuroanatomical (local microcircuitry) and neurophysiological (short-term plasticity) properties.  相似文献   

4.
    
ObjectivesAlthough revascularization surgery is recommended for adult patients with moyamoya disease (MMD) who present with ischemic symptoms due to hemodynamic compromise, the clinical course of such patients who are treated with medical management alone remains unclear. Here, we report outcomes of adult patients with cerebral misery perfusion due to ischemic MMD who received medical management alone.Materials and MethodsWe prospectively followed up patients who showed misery perfusion in the symptomatic cerebral hemisphere on 15O gas positron emission tomography (PET) and received strict medical management alone after refusing revascularization surgery.ResultsOf 57 patients who showed symptomatic misery perfusion on 15O gas PET, three (5%) were included into the present study. Two of these patients suffered further ischemic events at 7 and 8 months after inclusion, after which, their modified Rankin disability scale scores deteriorated. In the remaining patient, fatal intracerebral hemorrhage developed at 10 months after inclusion.ConclusionsThese findings suggest that receiving medical management alone is associated with considerably poor outcomes for adult patients with cerebral misery perfusion due to ischemic MMD.  相似文献   

5.
    
Background and purposeWeb shape modification (WSM) has previously been associated with aneurysm recurrence. We report here our five-year experience of WEB device use with a quantitative approach of the WSM phenomenon.MethodsFrom July 2012 to July 2017, 50 patients with 51 unruptured aneurysms treated with the WEB device have been prospectively enrolled in our data base and retrospectively analyzed. An independent “core lab” evaluated anatomical results and potential WSM in DSA follow-up. We defined the WSM ratio (WSMr) as a relative index between the height and the width of the device in working projections which gave an evaluation of the device deformation over the time.ResultsDuring the total follow-up period, WSM was observed in 35/48 aneurysms (72.9%). Adequate occlusion rates were 87.0% and 92.6% with and without WSM respectively (P = 0.65). 30 out the 35 (85.7%) shape modifications were already noticed at short-term follow-up (6-month DSA). 33 patients had 2 DSA controls and WSMr measurements were available in 24 patients: 18 (75%) with WSM and 6 (25%) without WSM. In the group with WSM, WSMr values were 0.80 in post-embolization, 0.52 at the first DSA angiogram and 0.42 at the second DSA angiogram.ConclusionWEB shape modification was observed in more than half of cases but with no influence regarding adequate occlusion rate. This quantitative approach of WSM highlights that this phenomenon appears to be early and progressive over time. This supports the hypothesis that WSM could be more probably related to aneurysm healing rather than external compression.  相似文献   

6.
    
《Brain stimulation》2023,16(1):28-39
BackgroundPrevious studies have shown that interpersonal neural synchronization (INS) is a ubiquitous phenomenon between individuals, and recent studies have further demonstrated close associations between INS and shared external sensorimotor input and/or internal mental processes within a dyad. However, most previous studies have employed an observational approach to describe the behavior-INS correlation, leading to difficulties in causally disentangling the relationship among INS, external sensorimotor input and the internal mental process.Objective/hypothesisThe present study aimed to directly change the level of INS through anodal transcranial direct current stimulation (tDCS) to test whether the change in INS would directly impact the internal mental process (Hypothesis 1) or indirectly through external sensorimotor input; the interaction behaviors were also changed (Hypothesis 2) or not (Hypothesis 3).MethodsThirty pairs of romantically involved heterosexual couples were recruited for a within-subjects design. Three conditions were assessed: a true stimulation condition with 20-min anodal high-definition tDCS to the right anterior temporal lobe (rATL) of women before they communicated with their partners, a sham stimulation condition and a control brain region stimulation condition. The comparison between the true and sham or control brain region conditions allows us to detect the true effect of brain stimulation on INS. Functional near-infrared spectroscopy (fNIRS) hyperscanning was used to simultaneously collect dyadic participants' hemodynamic signals during communication. INS, empathy, and interaction behaviors were examined and compared among different stimulation conditions.ResultsTrue brain stimulation significantly decreased INS between the rATL of the women and sensorimotor cortex (SMC) of the men compared to the sham stimulation condition (t(27.8) = ?2.821, P = 0.009, d = 0.714) and control brain region stimulation condition (t(27.2) = ?2.606, P = 0.015, d = 0.664) during communication. It also significantly decreased the level of emotional empathy (F(2,145) = 6.893, P = 0.001) but did not change sensorimotor processes, such as verbal or nonverbal interaction behaviors. However, nonverbal behaviors mediated the relationship between the changes in INS and emotional empathy (lower limit confidence interval = 0.01, upper limit confidence interval = 2.66).Conclusion(s)These findings support the third hypothesis, suggesting that INS is associated with the shared internal mental process indirectly via the sensorimotor process, but the sensorimotor process itself does not covary with the INS and the associated internal mental process. These results provide new insight into the hierarchical architecture of dual-brain function from a bottom-up perspective.  相似文献   

7.
    
The objective of this study was to elucidate the clinical features, surgical treatment, and outcome of intracranial aneurysms associated with moyamoya disease. We retrospectively reviewed a consecutive cohort of 79 moyamoya disease patients with 98 intracranial aneurysms at Beijing Tiantan Hospital. Clinical features, radiological findings, and outcomes were analyzed. Prevalence of intracranial aneurysms in patients with moyamoya disease was 3.9%. The mean age at diagnosis was 39.0 ± 12.4 years, with 1 peak distribution in patients from 40 to 50 years of age. The ratio of women to men was 1.00:1.03. Familial occurrence was 2.5%. The initial symptom was hemorrhage or ischemia in 56 (70.9%) and 23 patients (30.4%), respectively. Most patients presented with Suzuki stage 3 or 4. Seventy-nine cases had 98 aneurysms. Of the 98 aneurysms, sixteen aneurysms (16.3%) were treated by microsurgery and 7 by endovascular procedures, 13 aneurysms were conservatively managed, the remaining 62 were treated with revascularization alone. After a median nine-month angiographic follow-up, 18 aneurysms received clipped or embolized were completed occlusion, 18 aneurysms received conservative treated or coating were remained stable. Of the remaining 63 aneurysms that were treated with revascularization alone, 59 of 63 aneurysms remained stable, and 2 were obliterated, whereas 1 aneurysm ruptured during the follow-up. Hemorrhage was the most common symptom in intracranial aneurysms associated with moyamoya disease. Revascularization surgery may improve cerebral circulation, decreases hemodynamic stress and prevent the rupture of intracranial aneurysms.  相似文献   

8.
    
《Brain stimulation》2021,14(2):330-334
BackgroundAlcohol use disorder (AUD) affects nearly 5% of the world’s adult population. Despite treatment, AUD often manifests with relapse to binge drinking, which has been associated with corticostriatal hypersynchrony involving the nucleus accumbens (NAc).MethodsA modified “Drinking in the Dark” protocol was used to provoke binge-like alcohol drinking. We implemented Coordinated Reset Stimulation (CRS), a computationally designed, spatio-temporal stimulation algorithm, to desynchronize abnormal neuronal activity via a deep brain stimulation (DBS) electrode in the NAc of mice exhibiting binge-like alcohol drinking. Integral CRS charge injected would be 2.5% of that of conventional high-frequency DBS.ResultsNAc CRS delivery during only the initial phase of exposure to alcohol and prior to the exposure (but not during) significantly reduced binge-like drinking without interfering with social behavior or locomotor activity.ConclusionsNAc CRS ameliorates binge-like alcohol drinking and preliminarily exhibits sustained aftereffects that are suggestive of an unlearning of hypersynchrony.  相似文献   

9.
    
ObjectivesCerebral microbleeds (CMBs), which can be detected by gradient-echo T2*-weighted magnetic resonance imaging (MRI), represent small chronic brain hemorrhages caused by structural abnormalities in cerebral small vessels. CMBs are known to be a potential predictor of future stroke, and are associated with age, various cardiovascular risk factors, cognitive impairment, and the use of antithrombotic drugs. Patients with coronary artery disease (CAD) are at potentially high risk of CMBs due to the presence of coexistent conditions. However, little is known about CMBs in patients with CAD. We aimed to identify the factors associated with the presence of CMBs among patients with CAD.MethodsWe evaluated 356 consecutive patients [mean age, 72 ± 10 years; men = 276 (78%)] with angiographically proven CAD who underwent T2*-weighted brain MRI. The brain MRI was assessed by researchers blinded to the patients’ clinical details.ResultsCMBs were found in 128 (36%) patients. Among 356 patients, 119 (33%) had previously undergone percutaneous coronary intervention (PCI), and 26 (7%) coronary artery bypass grafting (CABG). There was no significant relationship between CMBs and sex, hypertension, dyslipidemia, diabetes mellitus, anticoagulation therapy, antiplatelet therapy, or prior PCI. CMBs were significantly associated with advanced age, previous CABG, eGFR, non-HDL cholesterol, carotid artery disease, long-term antiplatelet therapy, and long-term dual antiplatelet therapy (DAPT) using univariate logistic regression analysis. The multivariate logistic regression analysis showed that long-term antiplatelet therapy (odds ratio, 1.73; 95% CI, 1.06 – 2.84; P = 0.03) or long-term DAPT (odds ratio, 2.92; 95% CI, 1.39 – 6.17; P = 0.004) was significantly associated with CMBs after adjustment for confounding variables.ConclusionsCMBs were frequently observed in patients with CAD and were significantly associated with long-term antiplatelet therapy, especially long-term DAPT.  相似文献   

10.
    
《Clinical neurophysiology》2021,132(9):2046-2053
ObjectivesParietal lobe seizures (PLS) are characterized by multiple clinical manifestations including motor signs. The mechanisms underlying the occurrence of motor signs are poorly understood. The main objective of this work was to estimate the functional coupling of brain regions associated with this clinical presentation.MethodsWe retrospectively selected patients affected by drug-resistant epilepsy who underwent Stereoelectroencephalography (SEEG) for pre-surgical evaluation and in whom the seizure onset zone (SOZ) was located in the parietal cortex. The SOZ was defined visually and quantitatively by the epileptogenicity index (EI) method. Two groups of seizures were defined according to the presence (“motor seizures”) or the absence (“non-motor seizures”) of motor signs. Functional connectivity (FC) estimation was based on pairwise nonlinear regression analysis (h2 coefficient). To study FC changes between parietal, frontal and temporal regions, for each patient, z-score values of 16 cortico-cortical interactions were obtained comparing h2 coefficients of pre-ictal, seizure onset and seizure propagation periods.ResultsWe included 22 patients, 13 with “motor seizures” and 9 with “non-motor seizures”. Resective surgery was performed in 14 patients, 8 patients had a positive surgical outcome (Engel’s class I and II). During seizure onset period, a decrease of FC was observed and was significantly more important (in comparison with background period) in “motor” seizures. This was particularly observed between parietal operculum/post-central gyrus (OP/PoCg) and mesial temporal areas. During seizure propagation, a FC increase was significantly more important (in comparison with seizure onset) in “motor seizures”, in particular between lateral pre-motor (pmL) area and precuneus, pmL and superior parietal lobule (SPL) and between inferior parietal lobule (IPL) and supplementary motor area (SMA).ConclusionsOur study shows that motor semiology in PLS is accompanied by an increase of FC between parietal and premotor cortices, significantly different than what is observed in PLS without motor semiology.SignificanceOur results indicate that preferential routes of coupling between parietal and premotor cortices are responsible for the prominent motor presentation during PLS.  相似文献   

11.
    
ObjectiveTo compare corticospinal excitability and transcallosal inhibition between contralesional primary motor cortex (M1) and ipsilesional M1. We also investigated the correlation between transcallosal inhibition and upper extremity motor behavior.Materials and methods19 individuals with unilateral ischemic subacute stroke who had severe upper extremity impairment participated in this study. Corticospinal excitability was assessed by measuring the resting motor threshold, active motor threshold and motor evoked potential amplitude. Transcallosal inhibition was investigated by measuring the duration and depth of the ipsilateral silent period (ISP). The data from the two hemispheres were compared and the relationships of transcallosal inhibition with upper extremity motor impairment, grip strength and pinch strength were analyzed.ResultsResting motor threshold (p = 0.001) and active motor threshold (p = 0.001) were lower and motor evoked potential amplitude was higher (p = 0.001) in the contralesional M1 compared to the ipsilesional M1. However, there were no differences between the two M1s in ISP duration (p = 0.297) or ISP depth (p =0. 229). Transcallosal inhibition from the contralesional M1 was positively associated with motor impairment (ISP duration, p = 0.003; ISP depth, p = 0.017) and grip strength (ISP duration, p = 0.016; ISP depth, p = 0.045).ConclusionsSymmetric transcallosal inhibition between hemispheres and positive association of transcallosal inhibition from contralesional M1 with upper extremity motor behavior indicate that recruitment of contralesional M1 may be necessary for recovery in patients with severe upper extremity impairment after subacute ischemic stroke.  相似文献   

12.
    
ObjectivesWe contrasted the relative risks (RR) of short [<7 h] and long [>8 h] sleep experienced by middle-aged (45–64 years) and older (≥65 years) adults, compared with young adults (20–44 years).MethodsWe utilized NHANES data (2005–2016), capturing sociodemographic, socioeconomic, and health-related data among US adults.ResultsThe Relative Risk (RR) of short sleep between young and middle-aged adults did not differ [RR = 1.02, NS]. However, the RR of short sleep was significantly reduced among older participants [RR = 0.81, p < 0.01]. Middle-aged adults had significantly lower RR of long sleep [RR = 0.80, p < 0.01], whereas older adults had significantly greater RR of long sleep [RR = 1.41, p < 0.01]. Compared with young adults, older adults with or without increased disease burden had significantly lower RR of short sleep [RR = 0.81, p < 0.01 and RR = 0.80, p < 0.01], respectively. However, for middle-aged adults, the RR of short sleep did not differ whether they reported a greater disease burden. Relative to young adults, older adults with or without disease burden had higher RRs of long sleep [RR = 1.39, p < 0.01] and [RR = 1.45, p < 0.01], respectively. For middle-aged adults without disease burden, the RR of long sleep was lower than among young adults [RR = 0.72, p < 0.01].ConclusionsCompared with young adults, older adults were not at increased risk for short sleep. Rather, they reported longer sleep time regardless of the presence of disease burden. Future studies should investigate longitudinal effects of aging on objective sleep time, with or without common diseases.  相似文献   

13.
    
BackgroundSevere putamen dopamine depletion characterizes Parkinson's disease (PD) and multiple system atrophy (MSA). The extent of the depletion is greater than can be accounted for by loss of nigrostriatal dopaminergic terminals alone. We used putamen tissue levels and ratios of cysteinyl and parent catechols to explore possible denervation-independent abnormalities of dopamine synthesis and fate in PD and MSA. 5-S-Cysteinyldopa (Cys-DOPA) is produced from spontaneous oxidation of DOPA and 5-S-cysteinyldopamine (Cys-DA) from spontaneous oxidation of DA.MethodsPost-mortem putamen tissue samples from 17 PD and 25 MSA patients and 30 controls were assayed for endogenous catechols including DA, its cytoplasmic metabolites (Cys-DA, 3,4-dihydroxyphenylacetic acid, 3,4-dihydroxyphenylethanol, and 3,4-dihydroxyphenylacetaldehyde), and tyrosine hydroxylation products proximal to DA (DOPA and Cys-DOPA).ResultsThe PD and MSA groups did not differ in mean values of parent or cysteinyl catechols, and the data for the two groups were lumped. In the patients an index of vesicular storage of DA (the ratio of DA to the sum of its cytoplasmic metabolites) averaged 54% of control (p = 0.001), and an index of L-aromatic-amino-acid decarboxylase (LAAAD) activity (the ratio of DA and the sum of its cytoplasmic metabolites to the sum of DOPA + Cys-DOPA) averaged 21% of control (p < 0.0001). An index of innervation (the sum of DOPA + Cys-DOPA) averaged 63% of control (p = 0.01).InterpretationBased on patterns of parent and cysteinyl catechols in putamen, PD and MSA involve decreased vesicular uptake and decreased LAAAD activity in the residual dopaminergic terminals. The combination seems to contribute importantly to dopamine depletion in these diseases.  相似文献   

14.
    
《Clinical neurophysiology》2019,130(8):1299-1310
ObjectiveTo study using magnetoencephalography (MEG) the spatio-temporal dynamics of neocortical responses involved in sensory processing and early change detection in Friedreich ataxia (FRDA).MethodsTactile (TERs) and auditory (AERs) evoked responses, and early neocortical change detection responses indexed by the mismatch negativity (MMN) were recorded using tactile and auditory oddballs in sixteen FRDA patients and matched healthy subjects. Correlations between the maximal amplitude of each response, genotype and clinical parameters were investigated.ResultsEvoked responses were detectable in all FRDA patients but one. In patients, TERs were delayed and reduced in amplitude, while AERs were only delayed. Only tactile MMN responses at the contralateral secondary somatosensory cortex were altered in FRDA patients. Maximal amplitudes of TERs, AERs and tactile MMN correlated with genotype, but did not correlate with clinical parameters.ConclusionsIn FRDA, the amplitude of tactile MMN responses at SII cortex are reduced and correlate with the genotype, while auditory MMN responses are not altered.SignificanceSomatosensory pathways and tactile early change detection are selectively impaired in FRDA.  相似文献   

15.
    
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16.
    
《Brain stimulation》2020,13(1):20-34
BackgroundPotentiation of synaptic activity in spinal networks is reflected in the magnitude of modulation of motor responses evoked by spinal and cortical input. After spinal cord injury, motor evoked responses can be facilitated by pairing cortical and peripheral nerve stimuli.ObjectiveTo facilitate synaptic potentiation of cortico-spinal input with epidural electrical stimulation, we designed a novel neuromodulation method called dynamic stimulation (DS), using patterns derived from hind limb EMG signal during stepping.MethodsDS was applied dorsally to the lumbar enlargement through a high-density epidural array composed of independent platinum-based micro-electrodes.ResultsIn fully anesthetized intact adult rats, at the interface array/spinal cord, the temporal and spatial features of DS neuromodulation affected the entire lumbosacral network, particularly the most rostral and caudal segments covered by the array. DS induced a transient (at least 1 min) increase in spinal cord excitability and, compared to tonic stimulation, generated a more robust potentiation of the motor output evoked by single pulses applied to the spinal cord. When sub-threshold pulses were selectively applied to a cortical motor area, EMG responses from the contralateral leg were facilitated by the delivery of DS to the lumbosacral cord. Finally, based on motor-evoked responses, DS was linked to a greater amplitude of motor output shortly after a calibrated spinal cord contusion.ConclusionCompared to traditional tonic waveforms, DS amplifies both spinal and cortico-spinal input aimed at spinal networks, thus significantly increasing the potential and accelerating the rate of functional recovery after a severe spinal lesion.  相似文献   

17.
    
《Clinical neurophysiology》2019,130(12):2231-2237
ObjectiveThe clinical and neurophysiological characteristics of myoclonus in Angelman syndrome (AS) have been evaluated in single case or small cohorts, with contrasting results. We evaluated the features of myoclonus in a wide cohort of AS patients.MethodsWe performed polygraphic EEG-EMG recording in 24 patients with genetically confirmed AS and myoclonus. Neurophysiological investigations included jerk-locked back-averaging (JLBA), cortico-muscular coherence (CMC) and generalised partial directed coherence (GPDC). CMC and GPDC analyses were compared to those obtained from 10 healthy controls (HC).ResultsTwenty-four patients (aged 3–35 years, median 20) were evaluated. Sequences of quasi-continuous rhythmic jerks mostly occurred at alpha frequency or just below (mean 8.4 ± 1.4 Hz), without EEG correlate. JLBA did not show any clear transient preceding the jerks. CMC showed bilateral over-threshold CMC in alpha band that was prominent on the contralateral hemisphere in the patient group as compared to HC group. GPDC showed a significantly higher alpha outflow from both hemispheres toward activated muscles in the patient group, and a significantly higher beta outflow from contralateral hemisphere in the HC group.ConclusionsThese neurophysiological findings suggest a subcortical generator of myoclonus in AS.SignificanceMyoclonus in AS has not a cortical origin as previously hypothesised.  相似文献   

18.
    
ATP1A3 related disease is a clinically heterogeneous condition currently classified as alternating hemiplegia of childhood, rapid-onset dystonia-parkinsonism and cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss. Recently, it has become apparent that a remarkably large subgroup is suffering from often difficult-to-treat epilepsy. The aim of the present study was to assess the prevalence and efficacy of commonly used anti-epileptic-drugs (AEDs) in patients with ATP1A3 related seizures. Therefore, we performed a retrospective study of patients in combination with a systematic literature-based review. Inclusion criteria were: verified ATP1A3 mutation, seizures and information about AED treatment. The literature review yielded records for 188 epileptic ATP1A3 patients. For 14/188 cases, information about anti-epileptic treatment was available. Combined with seven unpublished records of ATP1A3 patients, a sample size of 21 patients was reached. Most used AED were levetiracetam (n = 9), phenobarbital (n = 8), valproic acid (n = 7), and topiramate (n = 5). Seizure reduction was reported for 57% of patients (n = 12). No individual AEDs used (either alone or combined) had a success rate over 50%. There was no significant difference in the response rate between various AEDs. Ketogenic diet was effective in 2/4 patients. 43% of patients (n = 9) did not show any seizure relief. Even though Epilepsy is a significant clinical issue in ATP1A3 patients, only a minority of publications provide any information about patients’ anti-epileptic treatment. The findings of treatment effectiveness in only 57% (or lower) of patients, and the non-existence of a clear first-line AED in ATP1A3 related epilepsy stresses the need for further research.  相似文献   

19.
    
ObjectiveTo explore the effects of different doses of dopamine receptor agonist pramipexole on neurobehaviors and changes of mitochondrial membrane potential in rats with global cerebral ischemia-reperfusion injury.MethodsA total of 75 SPF Sprague-Dawley male rats were randomly divided into sham group (n=20), model group (n=20), pramipexole administration group (n=35). The rat model of global cerebral ischemia-reperfusion injury was prepared by the modified Pulsinelli's four-vessel occlusion method. Pramipexole administration group was administered intraperitoneally in rats with global cerebral ischemia-reperfusion injury at different doses of pramipexole 0.25 mg/kg, 0.5 mg/kg, 1 mg/kg, 2 mg/kg, once a day for 14 consecutive days. Based on the results of modified neurological severity scores, open field test and morphology by Nissl's staining to determine the optimal dose of pramipexole. Mitochondrial membrane potential in the optimal dose of pramipexole administration group were measured by the JC-1 fluorescent probe staining method.Results1. Different doses of pramipexole 0.25 mg/kg, 0.5 mg/kg, 1 mg/kg, and 2 mg/kg, were used as drug administration in rats with global cerebral ischemia-reperfusion injury for 14 consecutive days, and we found that all four doses of pramipexole could improve the modified neurological severity scores of rats with global cerebral ischemia-reperfusion injury to varying degrees, but only 0.5 mg/kg pramipexole at 1, 3, 7 and 14 days consistently reduced modified neurological severity scores and improved neurological function in rats with global cerebral ischemia-reperfusion injury. In the open-field test, only 0.5 mg/kg pramipexole increased the number of entries into the central zone, duration spent in the central zone, total distance travelled in the open field and average velocity, which improved the spontaneous activities and reduced anxiety and depression of rats with global cerebral ischemia-reperfusion injury. 2. Different doses of pramipexole 0.25 mg/kg, 0.5 mg/kg, 1 mg/kg, and 2 mg/kg for 14 consecutive days significantly increased the number of surviving neurons in the hippocampal CA1 subfield in rats with global cerebral ischemia-reperfusion injury to varying degrees. Based on these results, we tentatively found that 0.5 mg/kg pramipexole may be the optimal dose in all of the above. 3. We found that 0.5 mg/kg pramipexole significantly increased the mitochondrial membrane potential in rats after global cerebral ischemia-reperfusion injury.ConclusionDifferent doses of dopamine receptor agonist pramipexole improved neurological function of rats with global cerebral ischemia-reperfusion injury to varying degrees, and 0.5 mg/kg pramipexole may be the optimal dose in all of the above. Pramipexole may produce neuroprotective effects by protecting neurons in the hippocampus and improving the mitochondrial membrane potential after global cerebral ischemia-reperfusion injury.  相似文献   

20.
    
《Clinical neurophysiology》2021,132(12):2965-2978
Objective To evaluate the accuracy of automated interictal low-density electrical source imaging (LD-ESI) to define the insular irritative zone (IZ) by comparing the simultaneous interictal ESI localization with the SEEG interictal activity.Methods Long-term simultaneous scalp electroencephalography (EEG) and stereo-EEG (SEEG) with at least one depth electrode exploring the operculo-insular region(s) were analyzed. Automated interictal ESI was performed on the scalp EEG using standardized low-resolution brain electromagnetic tomography (sLORETA) and individual head models. A two-step analysis was performed: i) sublobar concordance between cluster-based ESI localization and SEEG-based IZ; ii) time-locked ESI-/SEEG analysis. Diagnostic accuracy values were calculated using SEEG as reference standard. Subgroup analysis was carried out, based on the involvement of insular contacts in the seizure onset and patterns of insular interictal activity.Results Thirty patients were included in the study. ESI showed an overall accuracy of 53% (C.I. 29–76%). Sensitivity and specificity were calculated as 53% (C.I. 29–76%), 55% (C.I. 23–83%) respectively. Higher accuracy was found in patients with frequent and dominant interictal insular spikes.Conclusions LD-ESI defines with good accuracy the insular implication in the IZ, which is not possible with classical interictal scalp EEG interpretation.SignificanceAutomated LD-ESI may be a valuable additional tool to characterize the epileptogenic zone in epilepsies with suspected insular involvement.  相似文献   

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