共查询到20条相似文献，搜索用时 15 毫秒
1.
Yukari Miyakawa Tatsuo Fuchigami Masako Aoki Yusuke Mine Junichi Suzuki Tatsuhiko Urakami Shori Takahashi 《Brain & development》2018,40(7):592-595
Background
Neurological manifestations caused by hypoglycemia range from reversible focal deficits and transient encephalopathy to irreversible coma or death. Recently, high signal intensity lesions in the splenium of the corpus callosum on diffusion-weighted magnetic resonance imaging were reported in adults experiencing hypoglycemia. However, patients presenting with agraphia are rare.Subject and methods
We examined a 17-year-old left-handed female patient with type 1 diabetes who exhibited transient left agraphia with a reversible splenium lesion of the corpus callosum on diffusion-weighted imaging caused by hypoglycemia, which was improved with blood glucose management alone.Conclusion
This rare case indicates that agraphia, a sign of callosal disconnection syndrome, can result from a reversible splenial lesion of the corpus callosum caused by hypoglycemia. 相似文献2.
Maria-Ioanna Stefanou Debora Desideri Justus Marquetand Paolo Belardinelli Christoph Zrenner Holger Lerche Ulf Ziemann 《Clinical neurophysiology》2017,128(12):2503-2509
Objective
Mutations in STX1B encoding the presynaptic protein syntaxin-1B are associated with febrile seizures with or without epilepsy. It is unclear to what extent these mutations are linked to abnormalities of cortical glutamatergic or GABAergic neurotransmission. We explored this question using single- and paired-pulse transcranial magnetic stimulation (TMS) excitability markers.Methods
We studied nine currently asymptomatic adult STX1B mutation carriers with history of epilepsy and febrile seizures, who had been seizure-free for at least eight years without antiepileptic drug treatment, and ten healthy age-matched controls. Resting motor threshold (RMT), and input-output curves of motor evoked potential (MEP) amplitude, short-interval intracortical inhibition (SICI, marker of GABAAergic excitability) and intracortical facilitation (ICF, marker of glutamatergic excitability) were tested.Results
RMT, and input-output curves of MEP amplitude, SICI and ICF revealed no significant differences between STX1B mutation carriers and healthy controls.Conclusions
Findings suggest normal motor cortical GABAAergic and glutamatergic excitability in currently asymptomatic STX1B mutation carriers.Significance
TMS measures of motor cortical excitability show utility in demonstrating normal excitability in adult STX1B mutation carriers with history of seizures. 相似文献3.
Joel V. Gutiérrez Horacio Kaufmann Jose-Alberto Palma Carlos Mendoza-Santiesteban Vaughan G. Macefield Lucy Norcliffe-Kaufmann 《Clinical neurophysiology》2018,129(2):390-396
Objective
To assess vestibular function in patients with familial dysautonomia (FD), a hereditary sensory and autonomic neuropathy – caused by a mutation in the IKBKAP gene (c.2204?+?6?T > C) – and characterized by marked gait ataxia.Methods
Cervical and vestibular evoked myogenic potentials (cVEMPs and oVEMPs) were recorded from the sternocleidomastoid (SCM) and extraocular muscles in 14 homozygous patients, 2 heterozygous patients, and 15 healthy controls during percussion of the forehead.Results
cVEMP and oVEMP amplitudes were significantly lower, and peak latencies significantly delayed, in the FD patients. There were no differences in overall EMG during attempted maximal voluntary contractions of the SCM muscle, suggesting intact efferent function. The two heterozygotes with a minor haplotype missense (R696P) mutation in exon 19 of the IKBKAP gene had cVEMP responses less affected than the homozygous.Conclusions
The founder mutation in the IKBKAP gene affects the development of vestibular afferent pathways, leading to attenuated cVEMPs.Significance
Vestibular abnormalities may contribute to the gait ataxia in FD. 相似文献4.
Kohji Kato Seiji Mizuno Mie Inaba Shinobu Fukumura Naoko Kurahashi Koichi Maruyama Daisuke Ieda Kei Ohashi Ikumi Hori Yutaka Negishi Ayako Hattori Shinji Saitoh 《Brain & development》2018,40(8):678-684
Background
Germline mutations of the PTEN gene are responsible for several PTEN hamartoma tumor syndromes. They are also implicated as a cause of macrocephaly and mild to severe developmental delay, regardless of the presence or absence of hamartomas in childhood. Nevertheless, because of limited information, the clinical features present during childhood in patients with a PTEN mutation are yet to be elucidated.Methods
PTEN mutations were investigated by multiplex targeted sequencing of genomic DNA from 33 children with increased head circumference (>+2 SD) and developmental delay. The clinical features of all the patients with a PTEN mutation were abstracted by dysmorphologists.Results
We have identified six children with a PTEN mutation. Clinical dissection of these six patients, in addition to patient reports in the literature, revealed distinctive facial features that included frontal bossing, dolichocephaly, horizontal eyebrows, and a depressed nasal bridge. Macrocephaly (+3.2 to +6.0 SD) was noticeable compared to their height (?0.8 to +2.1 SD), and the difference in the SD value of head circumference and height was more than 3 SD in all patients.Conclusion
The presence of distinctive facies, extreme macrocephaly with normal to mildly high stature, and developmental delay may be useful for identifying patients with a PTEN mutation in childhood. Early identification of patients with a PTEN mutation would help uncover the natural course of tumor development in this group of individuals who have a possible predisposition to cancer, and be important for the development of an optimal surveillance strategy. 相似文献5.
Marlena Hupalo Janusz Smigielski Jan Fortuniak Dariusz J. Jaskolski 《Clinical neurophysiology》2018,129(1):327-332
Objective
Evaluation of the diagnostic utility of the oxyneurography (ONG) in diagnosing carpal tunnel syndrome (CTS).Methods
ONG examination of the median nerve was performed in 260 patients. The results were compared with nerve conduction studies and clinical provocative tests.Results
ONG index greater than or equal to 62% was found in 95.18% of the patients with no or minimal Nerve Conduction Study (NCS) changes (1–2 according to the Padua classification) but only in 1.69% of the patients with advanced NCS changes (Padua 3–6). The sensitivity and specificity of the ONG study i.e. 95.18% and 98.31%, respectively, were compared with standard clinical tests: Tinel sign (61.45% and 14.69%), Phalen test (34.94% and 45.20%), reverse Phalen test (81.93% and 34.46%) and carpal compression test (91.57% and 72.32%).Conclusions
ONG index lower than 62% was indicative of CTS. ONG has higher sensitivity and specificity then other clinical tests and it is an accurate and reliable method for the diagnosis of CTS.Significance
Oxyneurography is a non-invasive, fast and safe study which may play role in the diagnosis of carpal tunnel syndrome. 相似文献6.
Masayuki Itoh Shuhei Ide Yuji Iwasaki Takashi Saito Keishi Narita Hongmei Dai Shinji Yamakura Takeki Furue Hirotsugu Kitayama Keiko Maeda Eihiko Takahashi Kiyoshi Matsui Yu-ichi Goto Sen Takeda Masataka Arima 《Brain & development》2018,40(4):259-267
Objective
Arima syndrome (AS) is a rare disease and its clinical features mimic those of Joubert syndrome or Joubert syndrome-related diseases (JSRD). Recently, we clarified the AS diagnostic criteria and its severe phenotype. However, genetic evidence of AS remains unknown. We explored causative genes of AS and compared the clinical and genetic features of AS with the other JSRD.Patients and methods
We performed genetic analyses of 4 AS patients of 3 families with combination of whole-exome sequencing and Sanger sequencing. Furthermore, we studied cell biology with the cultured fibroblasts of 3 AS patients.Results
All patients had a specific homozygous variant (c.6012-12T>A, p.Arg2004Serfs*7) or compound heterozygous variants (c.1711+1G>A; c.6012-12T>A, p.Gly570Aspfs*19;Arg2004Serfs*7) in centrosomal protein 290?kDa (CEP290) gene. These unique variants lead to abnormal splicing and premature termination. Morphological analysis of cultured fibroblasts from AS patients revealed a marked decrease of the CEP290-positive cell number with significantly longer cilium and naked and protruded ciliary axoneme without ciliary membrane into the cytoplasm.Conclusion
AS resulted in cilia dysfunction from centrosome disruption. The unique variant of CEP290 could be strongly linked to AS pathology. Here, we provided AS specific genetic evidence, which steers the structure and functions of centrosome that is responsible for normal ciliogenesis. This is the first report that has demonstrated the molecular basis of Arima syndrome. 相似文献7.
Toru Takaori Akira Kumakura Atsushi Ishii Shinichi Hirose Daisuke Hata 《Brain & development》2017,39(1):72-74
Background
SCN1A is the gene that codes for the neuronal voltage-gated sodium-channel alpha-subunit 1. It is generally considered that an SCN1A truncating mutation causes the severe phenotype of Dravet syndrome.Patients
We describe 11- and 4-year-old male patients presenting with mild Dravet syndrome with a truncating mutation of SCN1A. The former patient showed moderate mental retardation; however, seizure was controlled to almost one incident a year by levetiracetam and topiramate. Carbamazepine was also effective, which is atypical of Dravet syndrome. The latter patient showed a borderline developmental quotient and did not have episodes of afebrile seizure.Conclusion
Two patients presented with mild Dravet syndrome, even though they had a truncating mutation of SCN1A. Not all truncating mutations of SCN1A cause the severe phenotype of Dravet syndrome. 相似文献8.
Karim Benmouna Christophe Milants François Charles Wang 《Clinical neurophysiology》2018,129(2):341-344
Objective
The aim of this study was to evaluate how the motor unit number index (MUNIX) is related to the adapted multiple point stimulation (AMPS) technique.Methods
MUNIX and AMPS technique were prospectively performed on thenar muscles in 20 consecutive patients referred to our neurophysiological laboratory with the clinical diagnosis of a possible motoneurone disorder (MND). The clinical and paraclinical assessment confirmed the diagnosis of MND in 13 out of 20 patients, amyotrophic lateral sclerosis (ALS) in 9 (with MND group). In the other 7 patients, there were neither evidence of MND, nor of any peripheral nervous system disease (without MND group).Results
AMPS and MUNIX data were significantly (p?<?0.001) lower in patients with MND than in patients without MND. There was a strong significant positive linear correlation between AMPS and MUNIX values (n?=?20; R?=?0.83; p?<?0.01).Conclusion
Both MUNIX and AMPS methods could serve as a reliable marker to document the motor unit loss.Significance
The present paper constitutes one more clue of MUNIX reliability. 相似文献9.
Timm Rosburg 《Clinical neurophysiology》2018,129(10):2099-2111
Objective
The study sought to assess the presence of auditory N100 gating deficits in patients with schizophrenia by meta-analysis.Methods
Literature was screened for studies on patients with schizophrenia that used the paired-click paradigm and reported N100 data. Both electroencephalographic and magnetoencephalographic studies were considered. N100 gating measures as well as the N100 amplitudes to the initial and repeated stimulus were extracted and subjected to a meta-analysis.Results
The literature research revealed 29 studies, reporting either N100 gating or N100 amplitude measures in paired-click experiments. Patients with schizophrenia exhibited less N100 gating than healthy controls across studies (mean g?=??0.405, SE?=?0.051). However, what appeared as a gating deficit in patients was due to reduced N100 amplitudes to the initial stimulus in this group (mean g?=?0.610, SE?=?0.075). Patients and controls did not differ in their N100 amplitudes to the repeated stimulus (mean g?=?0.042, SE?=?0.066).Conclusion
There is no evidence for an auditory N100 gating deficit in schizophrenia, but for an impaired N100 response recovery.Significance
Previous findings on impaired N100 gating in schizophrenia patients reflect deficient processing of auditory salience rather than defective inhibition of repeating redundant auditory stimulation. 相似文献10.
Nicolas Carpentier Thierry Cecchin Laurent Koessler Valérie Louis-Dorr Jacques Jonas Jean-Pierre Vignal Marc Carpentier William Szurhaj Patrice Bourgin Louis Maillard 《Clinical neurophysiology》2017,128(9):1696-1706
Objectives
To describe the hippocampal stereo-electroencephalogram during sleep according to sleep stages (including N2 sleep) and cycles, together with the hippocampal spindles.Methods
All patients with drug-resistant focal epilepsy undergoing intra-hippocampal implantation between August 2012 and June 2013 at Nancy University Hospital were screened. Six patients with explored hippocampus devoid of pathological features were analyzed. During one night, we identified continuous periods of successive N2, N3 and REM sleep for two full cycles. We performed a spectral analysis of the hippocampal signal for each labeled sleep period.Results
N2, N3 and REM sleeps were individualized according to their spectral powers, for each frequency band and sleep cycle. Hippocampal spindles showed dynamic intrinsic properties, the 11.5–16 Hz frequency band being mainly dominant, whereas the 9–11.5 Hz frequency band heightening during the beginning and the end of the transient. For N3 and REM sleep stages, the power of the hippocampal signal was significantly decreased between the first and the second sleep cycle.Conclusion
Distinct N2 sleep, fast spindles and homeostatic profile are all common properties shared by hippocampus and cortex during sleep.Significance
The close functional link between hippocampus and cortex may have various sleep-related substrates. 相似文献11.
Hyuna Kim Sangmoon Lee Murim Choi Hunmin Kim Hee Hwang JiEun Choi Jong Hee Chae Ki Joong Kim Byung Chan Lim 《Brain & development》2018,40(5):429-432
Purpose
A recurrent de novo mutation in KCNC1 (c.959G?>?A, p.Arg320His) has been identified recently as one of the important genetic causes of progress myoclonic epilepsy (PME). The clinical phenotype resulting from this mutation has been named as myoclonus epilepsy and ataxia due to potassium channel mutation (MEAK). This finding carries important clinical implications in that autosomal dominant inheritance and de novo occurrence need to be considered when conducting genetic tests in patients with PME. We present two familial cases of MEAK in siblings with a recurrent p.Arg320His mutation in KCNC1.Method
Whole exome sequencing and subsequent Sanger sequencing were performed for the cases and their parents.Results
A recurrent p.Arg320His mutation in KCNC1 was identified in the two brothers who showed characteristic features of MEAK: near normal early development, onset of myoclonus around 10?years of age, infrequent generalized tonic-clonic seizures, relatively mild cognitive impairment, and generalized epileptiform discharges. Interestingly, the asymptomatic mother was suspected as being mosaic for this mutation. This finding could lead to misleading inheritance patterns and make genetic diagnosis of PME more complicated.Conclusions
Our familial MEAK cases show that consideration of parental mosaicism in addition to meticulous phenotyping is needed when conducting KCNC1 genetic testing. 相似文献12.
Andrea Giorni François Windels Peter G. Stratton Raymond Cook Paul Silberstein Terrence Coyne Peter A. Silburn Pankaj Sah 《Clinical neurophysiology》2017,128(12):2510-2518
Objectives
Our goal was to provide a detailed analysis of neurons’ electrophysiological activity recorded in sub-territories of Globus pallidus internus (GPi) used as Deep Brain Stimulation (DBS) targets for these clinical conditions to potentially assist electrode targeting.Methods
We used intra-operative microelectrode recording during stereotactic neurosurgery to guide implantation of DBS lead.Results
Units in the medial anterior part of GPi of 7 Tourette’s syndrome patients under general anesthesia were firing at mean and median rate of 32.1 and 21?Hz respectively (n?=?101), with 45% of spikes fired during bursts and 21.3 bursts per minute. In the latero-posterior part of GPi of 7 dystonic patients under local anesthesia the mean and median activity were 46.1 and 30.6?Hz respectively (n?=?27), and a mean of 21.7 bursts per minute was observed, with 30% of all spikes occurring during these bursts.Conclusion
Units activity pattern – slow-regular, fast-irregular or fast-regular were present in different proportions between the two targets.Significance
The electrophysiological characteristics of the medial-anterior part of GPi and its latero-posterior portion can be used to assist DBS electrode targeting and also support the refinement of pathophysiological models of Tourette’s syndrome and Dystonia. 相似文献13.
14.
Gian Maria Fabrizi Stefano Tamburin Tiziana Cavallaro Ilaria Cabrini Moreno Ferrarini Federica Taioli Francesca Magrinelli Giampietro Zanette 《Clinical neurophysiology》2018,129(1):21-32
Objective
Nerve ultrasound (US) data on myelin protein zero (MPZ)-related Charcot-Marie-Tooth disease (CMT) are lacking. To offer a comprehensive perspective on MPZ-related CMTs, we combined nerve US with clinics, electrodiagnosis and histopathology.Methods
We recruited 36 patients (12 MPZ mutations), and correlated nerve US to clinical, electrodiagnostic measures, and sural nerve biopsy.Results
According to motor nerve conduction velocity (MNCV) criteria, nine patients were categorized as “demyelinating” CMT1B, 17 as “axonal” CMT2I/J, and 10 as dominant “intermediate” CMTDID. Sural nerve biopsy showed hypertrophic de-remyelinating neuropathy with numerous complex onion bulbs in one patient, de-remyelinating neuropathy with scanty/absent onion bulbs in three, axonal neuropathy in two, mixed demyelinating-axonal neuropathy in five. Electrodiagnosis significantly differed in CMT1B vs. CMT2I/J and CMTDID subgroups. CMT1B had slightly enlarged nerve cross sectional area (CSA) especially at proximal upper-limb (UL) sites. CSA was negatively correlated to UL MNCV and not increased at entrapment sites. Major sural nerve pathological patterns were uncorrelated to UL nerve US and MNCV.Conclusions
Sural nerve biopsy confirmed the wide pathological spectrum of MPZ-CMT. UL nerve US identified two major patterns corresponding to the CMT1B and CMT2I/J-CMTDID subgroups.Significance
Nerve US phenotype of MPZ-CMT diverged from those in other demyelinating peripheral neuropathies and may have diagnostic value. 相似文献15.
Yusuke Takezawa Hiromi Fujie Atsuo Kikuchi Tetsuya Niihori Ryo Funayama Matsuyuki Shirota Keiko Nakayama Yoko Aoki Masayuki Sasaki Shigeo Kure 《Brain & development》2018,40(10):934-938
Background
IARS2 encodes isoleucine-tRNA synthetase, which is aclass-1 amino acyl-tRNA synthetase. IARS2 mutations are reported to cause Leigh syndrome or cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysphasia syndrome (CAGSSS). To our knowledge, IARS2 mutations and diseases related to it have only been reported in three families. Here we report a case of two Japanese siblings with Leigh syndrome, some features of CAGSSS, and West syndrome that are found to have compound heterozygous novel IARS2 mutations.Case report
A 7-month-old Japanese girl presented with infantile spasms. Brain magnetic resonance imaging (MRI) revealed diffuse brain atrophy and hyperintensity in the bilateral basal ganglia. Three years later, her younger sister also presented with infantile spasms. MRI revealed diffuse brain atrophy and hyperintensity of the bilateral ganglia, suggesting Leigh syndrome. The siblings were identified with compound heterozygous missense mutations in IARS2, p.[(Phe227Ser)];[(Arg817His)].Conclusion
This is the first case study reporting Leigh syndrome concomitant with some features of CAGSSS in siblings with novel IARS2 mutations, thereby broadening the phenotypic spectrum of IARS2-related disorders. Further studies are warranted to elucidate the nature of these disorders. 相似文献16.
Tomoyuki Fumuro Masao Matsuhashi Riki Matsumoto Kiyohide Usami Akihiro Shimotake Takeharu Kunieda Takayuki Kikuchi Kazumichi Yoshida Ryosuke Takahashi Susumu Miyamoto Akio Ikeda 《Clinical neurophysiology》2018,129(9):1884-1890
Objective
Neuro-feedback (NFB) training by the self-regulation of slow potentials (SPs) <0.5?Hz recorded from the vertex scalp has been applied for seizure suppression in patients with epilepsy. However, SP is highly susceptible to artifact contamination, such as the galvanic skin response (GSR). This study aimed to evaluate the correlation between SPs recorded from the scalp and intracranial electroencephalography (EEG) by event-related coherence analysis.Methods
The scalp and subdural SPs were simultaneously recorded during NFB training by the DC-EEG machine while undergoing invasive recordings before epilepsy surgery in 10 patients with refractory partial epilepsy. The SPs at the vertex electrode were used as a reference for coherence analysis.Results
The coherence of SPs negatively correlated with the distance between the subdural and scalp electrodes. A significant negative correlation was noted between the linear subdural–scalp electrode distance and the coherence value (r?=????0.916, p?<?0.001).Conclusion
Scalp-recorded SPs from the vertex area primarily reflect the cortical activity of high lateral convexity.Significance
Our results strongly suggest that SPs in NFB recorded from the vertex scalp electrode is derived from the cortices of high lateral convexity but not from the artifacts, such as GSR. 相似文献17.
Aleksandra Vučković Mohammed Jarjees Muhammad Abul Hasan Makoto Miyakoshi Matthew Fraser 《Clinical neurophysiology》2018,129(8):1669-1679
Objectives
Spinal Cord Injured (SCI) persons with and without Central Neuropathic Pain (CNP) show different oscillatory brain activities during imagination of movement. This study investigates whether they also show differences in movement related cortical potentials (MRCP).Methods
SCI paraplegic patients with no CNP (n?=?8), with CNP in their lower limbs (n?=?8), and healthy control subjects (n?=?10) took part in the study. EEG clustering involved independent component analysis, equivalent current dipole fitting, and Measure Projection to define cortical domains that have functional modularity during the motor imagery task.Results
Three domains were identified: limbic system, sensory-motor cortex and visual cortex. The MRCP difference between the groups of SCI with and without CNP was reflected in a domain located in the limbic system, while the difference between SCI patients and control subjects was in the sensorimotor domain. Differences in MRCP morphology between patients and healthy controls were visible for both paralysed and non paralysed limbs.Conclusion
SCI but not CNP affects the movement preparation, and both SCI and CNP affect sensory processes.Significance
Rehabilitation strategies of SCI patients based on MRCP should take into account the presence of CNP. 相似文献18.
Motomu Suga Yuki Kawakubo Yukika Nishimura Kenji Hashimoto Masato Yumoto Kiyoto Kasai 《Clinical neurophysiology》2018,129(7):1444-1448
Objective
Uncovering molecular bases for auditory language processing in the human brain is a fundamental scientific challenge. The power and latency of the magnetic mismatch field (MMF) elicited by phoneme change, which are magnetoencephalographic indices of language function in its early stage of information processing, are theoretically thought to be modulated by N-methyl-d-aspartate-type glutamate receptor (NMDAR) function, but no study has yet assessed this possibility. We have thus sought to demonstrate an association between phonetic MMF power/latency and levels of plasma d-serine, an intrinsic co-agonist of glycine binding sites on NMDAR, in adults.Methods
The MMF response to phoneme changes was recorded using 204-channel magnetoencephalography in 61 healthy, right-handed, Japanese adults. Plasma levels of d- and l-serine were measured for each participant.Results
We did not find a significant correlation between MMF power/latency and plasma serine levels.Conclusions
Despite a sufficient sample size, we failed to find an association between the physiological markers of the early stage of information processing of language in the auditory cortex and biomarkers indexing glutamatergic function.Significance
Our study did not indicate that a molecular index of glutamatergic function could be a surrogate marker for the early stage of information processing of language in humans. 相似文献19.
Srikanth Muppidi Babak Razavi Mitchell G. Miglis Safwan Jaradeh 《Clinical neurophysiology》2018,129(4):783-786