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Rett syndrome (RTT) is a frequent neurodevelopmental disorder confirmed by clinical criteria and supported by the methyl-CpG-binding protein 2 gene (MECP2) mutation. A short central motor conduction time (CMCT) was reported in transcranial magnetic stimulation (TMS) studies performed in RTT. This was attributed to hyperexcitability of the motor cortex and/or spinal motor neurons, but was not studied further. Aim We performed TMS in RTT to evaluate motor cortex excitability by determining the cortical motor threshold (CMT) and motor cortex inhibition by the cortical silent period (CSP) besides measuring CMCT. Methods Single-pulse TMS was performed in 17 Rett patients, diagnosed by clinical criteria and MECP2 mutation testing, and the same number of healthy controls. The outcome measures were compared between RTT groups with different antiepileptic drugs (AED) and those with and without the MECP2 mutation. Results CMCT was shorter, but we found elevated CMT and shorter CSP, which suggests decreased excitatory and inhibitory motor cortical function. The outcome was independent of AED and the presence or absence of the MECP2 mutation. Interpretation Decreased excitatory and inhibitory motor cortical function could explain the short CMCT, with higher stimulus intensities needed to excite pyramidal neurons. [ABSTRACT FROM AUTHOR]

Abstract: Objective: To define auditory nerve and cochlear functions in two families with autosomal dominant axonal Charcot-Marie-Tooth (CMT). Methods: Affected members in two families with different point mutations of NF-L gene were screened with auditory brainstem responses (ABRs). Those with abnormal ABRs were further investigated with clinical, neurophysiological and audiological procedures. The point mutations of NF-L gene involved were Glu397Lys in 8 affected members of the family with AN, and Pro22Ser in 9 affected members of the family without AN. Results: ABRs and stapedial muscle reflexes were absent or abnormal in affected members of only one family consistent with auditory neuropathy (AN). In them, audiograms, otoacoustic emissions, and speech comprehension were normal. Absent or abnormal ABRs were consistent with slowing of conduction along auditory nerve and/or brainstem auditory pathway. Wave I when present was of normal latency. Conclusions: Auditory nerve involvement in the presence of normal cochlear outer hair cell activity is asymptomatic in one of two families with CMT disorder with different point mutations of the NF-L gene. The nerve disorder is consistent with altered synchrony and slowed conduction. Significance: The absence of “deafness” may reflect the ability of central mechanisms to compensate for the slowly developing auditory nerve abnormalities. [Copyright &y& Elsevier]

Objective This study explored event-related desynchronization (ERD) and synchronization (ERS) in amyotrophic lateral sclerosis (ALS) to quantify cortical sensorimotor processes during volitional movements. We furthermore compared ERD/ERS measures with clinical scores and movement-related cortical potential (MRCP) amplitudes. Methods Electroencephalograms were recorded while 21 ALS patients and 19 controls performed two self-paced motor tasks: sniffing and right index finger flexion. Based on Wavelet analysis the alpha and beta frequency bands were selected for subsequent evaluation. Results Patients generated significantly smaller resting alpha spectral power density (SPD) and smaller beta ERD compared to controls. Additionally patients exhibited merely unilateral post-movement ERS (beta rebound) whereas this phenomenon was bilateral in controls. ERD/ERS amplitudes did not correlate with corresponding MRCPs for either patients or controls. Conclusions The smaller resting alpha SPD and beta ERD and asymmetrical appearance of beta ERS in patients compared to controls could be the result of pyramidal cell degeneration and/or corpus callosum involvement in ALS. Significance These results support the notion of reduced movement preparation in ALS involving also areas outside the motor cortex. Furthermore post-movement cortical inhibition seems to be impaired in ALS. ERD/ERS and MRCP are found to be independent measures of cortical motor functions in ALS. [ABSTRACT FROM AUTHOR]

Abstract: This study estimated the whole-scalp topography and possible generators of the cortical potential associated with volitional self-paced inspirations (sniffs). In 17 healthy subjects we recorded a 32-channel electroencephalogram (EEG) during sniffing, for comparison during finger flexions. We averaged the EEG with respect to movement onset, and performed current source density and principal component analysis on the grand averaged data. We identified an early negative sniffing-related cortical potential starting ∼1.5s before movement at the vertex, which, in its time-course and dipole orientation, closely resembled Bereitshaftspotential preceding finger flexions. Around the movement onset, its topography became unique with three negative current sources: one at the vertex, and two bilaterally over the fronto-temporal derivations. We conclude that sequential cortical activation in preparation for sniffing is similar to other volitional movements. The current sources at sniff onset at the vertex likely reflect somatotopic motor representation of the diaphragm, neck and intercostal muscles, whereas current sources over fronto-temporal derivations likely reflect the somatotopic representation of the orofacial muscles. [Copyright &y& Elsevier]

Abstract: Objective: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by degeneration of the upper and lower motor neurons. Each voluntary movement, including inspiration, is preceded by movement-related cortical potential (MRCP) that can be recorded from the scalp. MRCPs of ALS patients with severe upper motor neuron involvement are smaller. Our aim was to explore whether the inspiratory-(sniffing)-related cortical potentials (SRCPs) and index-finger-flexion MRCPs (FFRCPs) can be used as markers of cortical involvement in ALS. Methods: Thirteen ALS patients and 15 healthy volunteers were assessed for their hand dexterity and strength, respiratory function, speech capacity, spasticity, electromyographic parameters and functional rating scales. EEG was recorded during self-paced sniffing and the right index finger flexion. The MRCP amplitudes were assessed at the relevant electrode positions. Results: No statistically significant difference was found between the MRCP amplitudes of the ALS patients and the control subjects. However, patients with more severely affected upper limb functions generated smaller FFRCPs and those with more affected respiratory functions generated smaller SRCPs. Excessively high FFRCPs were associated with better while excessively low FFRCPs with worse scores on some of the clinical measures of the upper limb function. Conclusion: Our preliminary results demonstrate that it is feasible to record SRCP in ALS patients, which combined with FFRCP, may be useful to determine the spectrum of motor control changes in this population. [Copyright &y& Elsevier]

Abstract: Numerous reports have shown that performing working-memory tasks causes an elevated rhythmic coupling in different areas of the brain; it has been suggested that this indicates information exchange. Since the information exchanged is encoded in brain waves and measurable by electroencephalography (EEG) it is reasonable to assume that it can be extracted with an appropriate method. In our study we made an attempt to extract the information using an artificial neural network (ANN), which can be considered as a stimulus–response model with a state observer. The EEG was recorded from three subjects while they performed a modified Sternberg task that required them to respond to each task with the answer “true” or “false”. The study revealed that a stimulus–response model can successfully be identified by observing phase-demodulated theta-band EEG signals 1 s prior to a subject’s answer. The results also showed that it was possible to predict the answers from the EEG signals with an average reliability of 75% for all the subjects. From this we concluded that it is possible to observe the system states and thus predict the correct answer using the EEG signals as inputs. [Copyright &y& Elsevier]

Abstract: In this paper we investigate the fuzzy identification of brain-code during simple gripping-force control tasks. Since the synchronized oscillatory activity and the phase dynamics between the brain areas are two important mechanisms in the brain’s function and information transfer, we decided to examine whether it is possible to extract the encoded information from the EEG signals using the phase-demodulation approach. The EEG was measured during the performance of different visuomotor tasks and the information we were trying to decode was the gripping force as applied by the subjects. The study revealed that it is possible, by using simple beta-rhythm filtering, phase demodulation, principal component analysis and a fuzzy model, to estimate the gripping-force response by using EEG signals as the inputs for the proposed model. The presented study has shown that even though EEG signals represent a superposition of all the active neurons, it is still possible to decode some information about the current activity of the brain centers. Furthermore, the cross-validation showed that the information about the gripping force is encoded in a very similar way for all the examined subjects. Thus, the phase shifts of the EEG signals seem to have a key role during activity and information transfer in the brain, while the phase-demodulation method proved to be a crucial step in the signal processing. [Copyright &y& Elsevier]