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1.
The cerebellum plays a role not only in motor control but also in motor learning and cognition. Joubert syndrome is a rare heterogeneous inherited genetic disorder characterized by ataxia, hypotonia, developmental delay, and at least one of the following features: neonatal respiratory disturbances or abnormal eye movement. The estimated frequency of Joubert syndrome in the United States is around 1 : 100 000. The term Joubert syndrome and related disorders (JSRD) has been recently coined to describe all disorders presenting with molar tooth sign on brain neuroimaging. Joubert syndrome is believed to be a representative of a new group of disorders named ciliopathies. The identification of seven causal genes (NPHP1, AHI1, CEP290, RPGRIP1L, TMEM67/MKS3, ARL13B, CC2D2A) has led to substantial progress in the understanding of the genetic basis of Joubert syndrome. The authors focus on clinical presentation of JSRD, differential diagnosis and molecular background. 相似文献
2.
Stéphanie Vanwalleghem Anne-Sophie Deborde Sabine Fosse 《Annales médico-psychologiques》2017,175(10):865-870
Introduction
In the frame of works concerning psychiatric manifestations of genetic syndromes, we studied the psychopathological disorders of the Joubert Syndrome. This congenital syndrome affects the cerebellum and the brain stem.Method
Six children and adolescents aged from 6 to 17 years old were recruited. Three of the six subjects had intellectual disability. A depression inventory was filled by the subjects. Two semi-structured interviews were proposed to their parents to collect information so as to identify psychopathological disorders subjects could have.Results
Results showed a high prevalence of psychiatric disorders and an inter-individual variability. Indeed, five subjects out of six had psychiatric disorders: anxious disorders (social phobia, agoraphobia, generalized anxiety disorder), depression, psychotic disorder unspecified, pervasive developmental disorder, conduct disorder, tics, enuresis. For two subjects, intellectual disability was associated with autistic behaviors but only one of the two filled the diagnosis criteria for pervasive developmental disorder non-specified; the other did not fill the diagnosis criteria for pervasive developmental criteria nor for autism. Future studies might help to decide if these disorders are the expression of the Joubert Syndrome or if they are reactive disorders to the manifestations of this congenital syndrome. 相似文献3.
Ahmed Farag Elhassanien Hesham Abdel-Aziz Alghaiaty 《Annals of Indian Academy of Neurology》2013,16(2):239-244
Background:
Joubert Syndrome (JS) is a rare genetic developmental disorder, first identified in 1969. In patients with JS, certain regions of the brain (mainly cerebellar vermis and brainstem) are underdeveloped or malformed. This can lead to impaired attention, visual, spatial, motor, language and social functional skills. JS is characterized by a host of features, many of which do not occur in every patient.Aim of the Study:
To spotlight and increase awareness of clinical profile and neuroimaging findings of children with Joubert syndrome.Methods:
This is a retrospective case series study of patients with JS who attended the Pediatric Neurology Clinic in Aladan and Alfarawanya Hospitals in Kuwait, from September 2007 to September 2012. Clinical and radiological data were obtained from the patient medical records.Results:
Cerebellar vermis hypoplasia/aplasia and apnea were present in all patients, polydactly in 3 of 16, renal problems with cysts in 5 patients and 11 of 16 had abnormal electroretinograms (ERGs). Blood investigations of organic acids, amino acids and very-long-chain fatty acid, were normal in the all the nine patients.Conclusion:
JS is a rare genetic brain malformation with association of retinal dystrophy and renal abnormalities. The retinal dystrophy may be progressive. The prognosis of patients depends mainly on the degree of brain malformation. 相似文献4.
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5.
Masayuki Itoh Yuji Iwasaki Kohsaku Ohno Takehiko Inoue Masaharu Hayashi Shuichi Ito Tetsuo Matsuzaka Shuhei Ide Masataka Arima 《Brain & development》2014
Aim: We have never known any epidemiological study of Arima syndrome since it was first described in 1971. To investigate the number of Arima syndrome patients and clarify the clinical differences between Arima syndrome and Joubert syndrome, we performed the first nationwide survey of Arima syndrome, and herein report its results. Furthermore, we revised the diagnostic criteria for Arima syndrome. Methods: As a primary survey, we sent out self-administered questionnaires to most of the Japanese hospitals with a pediatric clinic, and facilities for persons with severe motor and intellectual disabilities, inquiring as to the number of patients having symptoms of Arima syndrome, including severe psychomotor delay, agenesis or hypoplasia of cerebellar vermis, renal dysfunction, visual dysfunction and with or without ptosis-like appearance. Next, as the second survey, we sent out detailed clinical questionnaires to the institutes having patients with two or more typical symptoms. Results: The response rate of the primary survey was 72.7% of hospitals with pediatric clinic, 63.5% of national hospitals and 66.7% of municipal and private facilities. The number of patients with 5 typical symptoms was 13 and that with 2–4 symptoms was 32. The response rate of the secondary survey was 52% (23 patients). After reviewing clinical features of 23 patients, we identified 7 Arima syndrome patients and 16 Joubert syndrome patients. Progressive renal dysfunction was noticed in all Arima syndrome patients, but in 33% of those with Joubert syndrome. Conclusion: It is sometimes difficult to distinguish Arima syndrome from Joubert syndrome. Some clinicians described a patient with Joubert syndrome and its complications of visual dysfunction and renal dysfunction, whose current diagnosis was Arima syndrome. Thus, the diagnosis of the two syndromes may be confused. Here, we revised the diagnostic criteria for Arima syndrome. 相似文献
6.
7.
Vykuntaraju K. Gowda Tamilarasan Udhayabanu Perumal Varalakshmi Varunvenkat M. Srinivasan Balasubramaniem Ashokkumar 《Brain & development》2018,40(7):582-586
Background
Fazio-Londe syndrome also called progressive bulbar palsy of childhood is a very rare motor neuron disease of pediatric age group characterized by progressive paralysis of lower cranial nerves.Objective
To describe Fazio-Londe syndrome in sibling with different phenotype.Methods
A 6?years old female child presented with inability to close eyes, difficulty in swallowing, respiratory muscle weakness and voice change since 5?yr of age. Examination showed lower motor neuron facial nerve palsy, absent gag reflex, tongue atrophy, fasciculation, limb wasting and exaggerated deep tendon reflexes. An 11?year old boy, elder sibling of the above child presented with similar complaints at 10?years of age, other than later onset and lack of respiratory problem. Genetic testing in both cases confirmed the diagnosis of Fazio-Londe Syndrome.Conclusion
In any child who presents with progressive bulbar palsy with lower motor neuron facial palsy a diagnosis of Fazio-Londe Syndrome should be considered and family members should also be screened. 相似文献8.
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9.
Takeshi Kouga Mariko Takagi Akihiko Miyauchi Hiroko Shimbo Mizue Iai Sumimasa Yamashita Kei Murayama Matthew B. Klein Guy Miller Tomohide Goto Hitoshi Osaka 《Brain & development》2018,40(2):145-149
Background
Leigh syndrome is a mitochondrial disease caused by respiratory chain deficiency, and there are no proven effective therapies. EPI-743 is a potent cellular oxidative stress protectant and results of clinical trials for mitochondrial diseases are accumulating.Case
At 5 months, a girl presented with the scarce eye movement and diminished muscle tone. She was diagnosed with Leigh encephalopathy from blood and cerebrospinal fluid lactate elevation and MRI findings. Sequence analysis for mitochondrial DNA revealed a T10158C mutation in the mitochondrial encoded ND3 gene in complex I.Results
At 8 months, succinate was prescribed expected to restore the electron transport chain system. After that her condition got worse and succinate was discontinued. Subsequent administration of EPI-743 improved her eye movement, fine motor movements of the extremities, and bowel movement. She is now 5 years old. Although brain atrophy has progressed, she has still respiratory free time.Conclusion
Our patient showed visible improvement with EPI-743 treatment and the only patient surviving after 4 years. There is a possibility that EPI-743 is modifying the natural course of the syndrome. 相似文献10.
Hyun Woo Kim Zhejiu Quan Young-Beom Kim Eunji Cheong Heung Dong Kim Minjung Cho Jiho Jang Young Rang Yoo Joon Soo Lee Ji Hun Kim Yang In Kim Dae-Sung Kim Hoon-Chul Kang 《Brain & development》2018,40(4):287-298
Background
We investigated how two distinct mutations in SCN1A differentially affect electrophysiological properties of the patient-derived GABAergic neurons and clinical severities in two Dravet syndrome (DS) patients.Materials and Methods
We established induced pluripotent stem cells from two DS patients with different mutations in SCN1A and subsequently differentiated them into forebrain GABAergic neurons. Functionality of differentiated GABAergic neurons was examined by electrophysiological recordings.Results
DS-1 patient had a missense mutation, c.4261G?>?T [GenBank: NM_006920.4] and DS-2 patient had a nonsense frameshift mutation, c.3576_3580 del TCAAA [GenBank: NM_006920.4]. Clinically, contrary to our expectations, DS-1 patient had more severe symptoms including frequency of seizure episodes and the extent of intellectual ability penetration than DS-2 patient. Electrophysiologic recordings showed significantly lower sodium current density and reduced action potential frequency at strong current injection (>60?pA) in GABAergic neurons derived from both. Intriguingly, unique genetic alterations of SCN1A differentially impacted electrophysiological impairment of the neurons, and the impairment’s extent corresponded with the symptomatic severity of the donor from which the iPSCs were derived.Conclusion
Our results suggest the possibility that patient-derived iPSCs may provide a reliable in vitro system that reflects clinical severities in individuals with DS. 相似文献11.
Rossella Spataro Alexander Heilinger Brendan Allison Domenico De Cicco Santino Marchese Cesare Gregoretti Vincenzo La Bella Christoph Guger 《Clinical neurophysiology》2018,129(6):1130-1136
Objective
To assess somatosensory discrimination and command following using a vibrotactile P300-based Brain-Computer Interface (BCI) in Unresponsive Wakefulness Syndrome (UWS), and investigate the predictive role of this cognitive process on the clinical outcomes.Methods
Thirteen UWS patients and six healthy controls each participated in two experimental runs in which they were instructed to count vibrotactile stimuli delivered to the left or right wrist. A BCI determined each subject’s task performance based on EEG measures. All of the patients were followed up six months after the BCI assessment, and correlations analysis between accuracy rates and clinical outcome were investigated.Results
Four UWS patients demonstrated clear EEG-based indices of task following in one or both paradigms, which did not correlate with clinical factors. The efficacy of somatosensory discrimination strongly correlated (VT2: R?=?0.89, p?=?0.0000002, VT3: R?=?0.81, p?=?0.002) with the clinical outcome at 6-months. The BCI system also yielded the expected results with healthy controls.Conclusions
Neurophysiological correlates of somatosensory discrimination can be detected in clinically unresponsive patients and are associated with recovery of behavioural responsiveness at six months.Significance
Quantitative measurements of somatosensory discrimination may increase the diagnostic accuracy of persons with DOCs and provide useful prognostic information. 相似文献12.
Emma K. Baker David E. Godler Minh Bui Chriselle Hickerton Carolyn Rogers Mike Field David J. Amor Lesley Bretherton 《Journal of Neurodevelopmental Disorders》2018,10(1):24
Background
Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are neurodevelopmental disorders that are caused by abnormal expression of imprinted genes in the 15q11-13 region. Dysregulation of genes located in this region has been proposed as a susceptibility factor for autism spectrum disorder (ASD) in both disorders.Methods
This study aimed to explore symptoms of ASD in 25 PWS and 19 AS individuals aged between 1 and 39 years via objective assessment. Participants completed the Autism Diagnostic Observation Schedule-2nd Edition (ADOS-2) and a developmentally or age-appropriate intellectual functioning assessment. All participants had their genetic diagnosis confirmed using DNA methylation analysis and microarray testing of copy number changes within the 15q11-13 region.Results
Participants with PWS had significantly higher overall and social affect calibrated severity scores (CSS) on the ADOS-2 compared to AS participants (p?=?.0055 and .0015, respectively), but the two groups did not differ significantly on CSS for the repetitive and restricted behaviour domain.Conclusions
PWS cases presented with greater symptoms associated with ASD compared to individuals with AS. Mental health issues associated with PWS may contribute to elevated symptoms of ASD, particularly in adolescents and adults with PWS.13.
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14.
Pauline Marzin Cyril Mignot Nathalie Dorison Louis Dufour Dorothée Ville Anna Kaminska Eleni Panagiotakaki Anne-Sophie Dienpendaele Marie-José Penniello Marie-Christine Nougues Boris Keren Christel Depienne Caroline Nava Mathieu Milh Laurent Villard Christian Richelme Clotilde Rivier Sandra Whalen Diane Doummar 《Brain & development》2018,40(9):768-774
15.
Daiki Kondo Atsuko Noguchi Ikuko Takahashi Hiroki Kubota Tamami Yano Yoko Sato Miyuki Toyono Yukio Sawaishi Tsutomu Takahashi 《Brain & development》2018,40(9):760-767
Objective
To reveal a molecular lesion in the ZC4H2 gene in a Japanese family with arthrogryposis multiplex congenita (AMC) and intellectual disability (ID), and to characterize clinical features of patients with ZC4H2 gene mutations through a literature review.Patients
The probands are male siblings. The elder brother is an 11-year-old boy who showed AMC and ID and frequent postprandial hypoglycemia since 3?years of age. The younger brother also showed AMC, ID, and subclinical postprandial hypoglycemia. The boys’ mother also showed a minor malformation of the left toes.Method and result
Using Sanger sequencing, a hemizygous one base substitution designated c.627G?>?C, which is predicted to substitute asparagine for lysine at amino acid residue 209 (K209N), was identified in the siblings. The mother was heterozygous for this mutation. In silico analysis predicted K209N to be a constituent of a motif required for subcellular localization of the ZC4H2 protein in the nucleus. Transient expression studies of subcellular localization in COS-7 cells showed that compared to the wild-type protein, the transport of the mutant protein into the nucleus was inhibited, thus confirming K209N as a molecular lesion in this family. The literature reviews revealed postprandial hypoglycemia as a new clinical feature that should be considered in ZC4H2 gene-mutation disorders.Conclusion
A Japanese family with AMC and ID caused by a novel ZC4H2 gene mutation was reported. Hypoglycemia should be considered one of the features in this disorder. 相似文献16.
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17.
Masashi Ogasawara Akihiko Ishiyama Akira Sugiura Kazuhiko Segawa Ikuya Nonaka Eri Takeshita Yuko Shimizu-Motohashi Hirofumi Komaki Masayuki Sasaki 《Brain & development》2018,40(4):339-342
Introduction
Chilaiditi syndrome is a rare pathophysiology in which the colon or other organs are interposed between the diaphragm and liver, and respiratory or digestive symptoms sometimes manifest. Although there have been some cases of Chilaiditi syndrome complicating neuromuscular disorders, none have described resulting respiratory or digestive symptoms.Case presentation
Our patient was a 20-year-old man with DMD who had been receiving noninvasive positive-pressure ventilation during the night. He experienced respiratory distress when changing from a supine to sitting position. Ventilator adjustment did not relieve the respiratory distress. Abdominal computed tomography revealed marked constipation and interposition of the transverse colon between the diaphragm and liver, indicating Chilaiditi syndrome. The right side of the diaphragm was elevated by the interposed transverse colon when the respiratory distress was present on chest radiograph, but not when symptoms were absent. The patient was diagnosed with platypnea-orthodeoxia attributed to Chilaiditi syndrome. The respiratory distress was improved by the relief of constipation, in addition to the usage of the ventilator throughout the day.Conclusion
The rare symptoms and pathophysiology of DMD complicated by Chilaiditi syndrome are reported and discussed herein. 相似文献18.
Verity M. McClelland Doreen Fialho Denise Flexney-Briscoe Graham E. Holder Markus C. Elze Hortensia Gimeno Ata Siddiqui Kerry Mills Richard Selway Jean-Pierre Lin 《Clinical neurophysiology》2018,129(2):473-486
Objectives
To report Somatosensory Evoked Potentials (SEPs) and Central Motor Conduction Times (CMCT) in children with dystonia and to test the hypothesis that these parameters predict outcome from Deep Brain Stimulation (DBS).Methods
180 children with dystonia underwent assessment for Globus pallidus internus (GPi) DBS, mean age 10?years (range 2.5–19). CMCT to each limb was calculated using Transcranial Magnetic Stimulation. Median and posterior tibial nerve SEPs were recorded over contralateral and midline centro-parietal scalp. Structural abnormalities were assessed with cranial MRI. One-year outcome from DBS was assessed as percentage improvement in Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS-m).Results
Abnormal CMCTs and SEPs were found in 19% and 47% of children respectively and were observed more frequently in secondary than primary dystonia. Of children proceeding to DBS, better outcome was seen in those with normal (n?=?78/89) versus abnormal CMCT (n?=?11/89) (p?=?0.002) and those with normal (n?=?35/51) versus abnormal SEPs (n?=?16/51) (p?=?0.001). These relationships were independent of dystonia aetiology and cranial MRI findings.Conclusions
CMCTs and SEPs provide objective evidence of motor and sensory pathway dysfunction in children with dystonia and relate to DBS outcome.Significance
CMCTs and SEPs can contribute to patient selection and counselling of families about potential benefit from neuromodulation for dystonia. 相似文献19.
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20.
Jaisalmer de Frutos-Lucas David López-Sanz Pilar Zuluaga Inmaculada Concepcion Rodríguez-Rojo Raúl Luna María Eugenia López María Luisa Delgado-Losada Alberto Marcos Ana Barabash Ramón López-Higes Fernando Maestú Alberto Fernández 《Clinical neurophysiology》2018,129(9):1981-1989