Pub Date : 2023-09-06DOI: 10.1016/j.jnrt.2023.100079
Longnian Zhou , Haoru Dong , Yiming Tao , Yuanqing Ding , Haiyue Lin , Rong Xie
Chiari malformation (CM) is a type of disease in which the cerebellar tonsils extend downward due to abnormal development of the hindbrain. Still, recent bibliometric studies on CM are a blind spot. We conducted a bibliometric analysis of research over the past decade to explore the hot spots and trends in this field. We used VOSviewer, CiteSpace and Bibliometrix to perform a global bibliometric analysis of the articles from 2013 to 2022 on CM in the web of science (WOS) core collection. The query identified 2155 articles, of which most were published in the USA. Institutions like Akron University and the University of Washington published the most articles and were widely cited. Loth Francis and R. Shane Tubbs were the most productive authors on this topic. Besides, the top-cited article was also published by R.Shane Tubbs in J NEUROSURG-PEDIATR (2011). A great number of relevant studies focused on syringomyelia and surgical technique such as posterior fossa decompression. The CM field is still heating up and will continue to grow in popularity. Our findings offer a panoramic view of this research field for new researchers and policymakers.
{"title":"Global bibliometric and visual analysis of Chiari malformation","authors":"Longnian Zhou , Haoru Dong , Yiming Tao , Yuanqing Ding , Haiyue Lin , Rong Xie","doi":"10.1016/j.jnrt.2023.100079","DOIUrl":"10.1016/j.jnrt.2023.100079","url":null,"abstract":"<div><p>Chiari malformation (CM) is a type of disease in which the cerebellar tonsils extend downward due to abnormal development of the hindbrain. Still, recent bibliometric studies on CM are a blind spot. We conducted a bibliometric analysis of research over the past decade to explore the hot spots and trends in this field. We used VOSviewer, CiteSpace and Bibliometrix to perform a global bibliometric analysis of the articles from 2013 to 2022 on CM in the web of science (WOS) core collection. The query identified 2155 articles, of which most were published in the USA. Institutions like Akron University and the University of Washington published the most articles and were widely cited. Loth Francis and R. Shane Tubbs were the most productive authors on this topic. Besides, the top-cited article was also published by R.Shane Tubbs in J NEUROSURG-PEDIATR (2011). A great number of relevant studies focused on syringomyelia and surgical technique such as posterior fossa decompression. The CM field is still heating up and will continue to grow in popularity. Our findings offer a panoramic view of this research field for new researchers and policymakers.</p></div>","PeriodicalId":44709,"journal":{"name":"Journal of Neurorestoratology","volume":"11 4","pages":"Article 100079"},"PeriodicalIF":3.3,"publicationDate":"2023-09-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44523805","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-09-01DOI: 10.1016/j.jnrt.2023.100068
Ruchika Kalra, Meena Gupta, Priya Sharma
Autism spectrum disorder (ASD), a complicated neurobehavioral disorder, is characterised by challenges in social contact, a lack of verbal development, communication difficulties, and difficult and repetitive behaviour. Articles published in the years 2010–2022 were considered, and 46 articles came to be included. The review is structured according to the rehabilitation team and the services provided by them: drug intervention, diet, physiotherapy, occupational, vocational, psychological, family rehabilitation, and assistive technology. The result concluded with necessities and different technologies associated with the rehabilitation and the need for the rehabilitation in the upcoming statistics of the increasing number of children with ASD, and so the professional needs to be with unique ideas and technology to overcome the situation and meet expectations.
{"title":"Recent advancement in interventions for autism spectrum disorder: A review","authors":"Ruchika Kalra, Meena Gupta, Priya Sharma","doi":"10.1016/j.jnrt.2023.100068","DOIUrl":"10.1016/j.jnrt.2023.100068","url":null,"abstract":"<div><p>Autism spectrum disorder (ASD), a complicated neurobehavioral disorder, is characterised by challenges in social contact, a lack of verbal development, communication difficulties, and difficult and repetitive behaviour. Articles published in the years 2010–2022 were considered, and 46 articles came to be included. The review is structured according to the rehabilitation team and the services provided by them: drug intervention, diet, physiotherapy, occupational, vocational, psychological, family rehabilitation, and assistive technology. The result concluded with necessities and different technologies associated with the rehabilitation and the need for the rehabilitation in the upcoming statistics of the increasing number of children with ASD, and so the professional needs to be with unique ideas and technology to overcome the situation and meet expectations.</p></div>","PeriodicalId":44709,"journal":{"name":"Journal of Neurorestoratology","volume":"11 3","pages":"Article 100068"},"PeriodicalIF":3.3,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41264797","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-09-01DOI: 10.1016/j.jnrt.2023.100072
Yan Zhang , Mengzhou Xue
We report a case of pediatric intracerebral hemorrhage with cerebral herniation treated with stereotaxic minimally invasive surgery. A 4-month-old premature male infant with vitamin K deficiency presented to the emergency department with focal seizures and vomiting. A computed tomography scan revealed a massive intracerebral hemorrhage in the left frontal lobe with cerebral herniation. The child successfully underwent stereotaxic minimally invasive surgery hematoma evacuation, and the neurological function improved significantly. Brain magnetic resonance imaging was performed to further characterize the lesion, but no intracranial vascular malformation was found. Overall, the neurological function was completely recovered at the 18-month follow-up, and there were no postoperative complications such as infection, rebleeding and seizures.
{"title":"Stereotaxic minimally invasive surgery for the successful treatment of intracerebral hemorrhage in children with brain herniation and case analysis","authors":"Yan Zhang , Mengzhou Xue","doi":"10.1016/j.jnrt.2023.100072","DOIUrl":"10.1016/j.jnrt.2023.100072","url":null,"abstract":"<div><p>We report a case of pediatric intracerebral hemorrhage with cerebral herniation treated with stereotaxic minimally invasive surgery. A 4-month-old premature male infant with vitamin K deficiency presented to the emergency department with focal seizures and vomiting. A computed tomography scan revealed a massive intracerebral hemorrhage in the left frontal lobe with cerebral herniation. The child successfully underwent stereotaxic minimally invasive surgery hematoma evacuation, and the neurological function improved significantly. Brain magnetic resonance imaging was performed to further characterize the lesion, but no intracranial vascular malformation was found. Overall, the neurological function was completely recovered at the 18-month follow-up, and there were no postoperative complications such as infection, rebleeding and seizures.</p></div>","PeriodicalId":44709,"journal":{"name":"Journal of Neurorestoratology","volume":"11 3","pages":"Article 100072"},"PeriodicalIF":3.3,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43142733","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-09-01DOI: 10.1016/j.jnrt.2023.100069
Xin Xu, Peng-Bo Zhou
Approximately 10,000 cases of spinal cord injury (SCI), most caused by trauma, are reported each year. We present a unique case of injury secondary to electrical stimulation of the thoracic spinal cord for the treatment of diabetic foot. The patient developed symptoms of acute-phase spinal cord shock after surgery, and the expected therapeutic results were achieved by methylprednisolone and other treatments. Improper program control may destroy the efficacy of spinal cord stimulation for pain relief. This case should alert physicians to the potential risks of neuroregulation following epidural placement of electrodes.
{"title":"Spinal cord injury caused by electrical stimulation of thoracic spinal cord for treatment of diabetic foot: A case report","authors":"Xin Xu, Peng-Bo Zhou","doi":"10.1016/j.jnrt.2023.100069","DOIUrl":"10.1016/j.jnrt.2023.100069","url":null,"abstract":"<div><p>Approximately 10,000 cases of spinal cord injury (SCI), most caused by trauma, are reported each year. We present a unique case of injury secondary to electrical stimulation of the thoracic spinal cord for the treatment of diabetic foot. The patient developed symptoms of acute-phase spinal cord shock after surgery, and the expected therapeutic results were achieved by methylprednisolone and other treatments. Improper program control may destroy the efficacy of spinal cord stimulation for pain relief. This case should alert physicians to the potential risks of neuroregulation following epidural placement of electrodes.</p></div>","PeriodicalId":44709,"journal":{"name":"Journal of Neurorestoratology","volume":"11 3","pages":"Article 100069"},"PeriodicalIF":3.3,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44097925","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-09-01DOI: 10.1016/j.jnrt.2023.100067
Rakib Uddin Ahmed , Monzurul Alam , Shuai Li , Poornima Palanisamy , Hui Zhong , Yong-Ping Zheng
Low-intensity pulsed ultrasound (LIPUS) stimulation has shown promising results in neurorehabilitation following a traumatic injury in brain and peripheral nerves. However, the effects of LIPUS stimulation in the injured neural circuit after spinal cord injury (SCI) are still unknown. We investigated the effects of LIPUS on forelimb functions in chronic cervical cord injured rats with and without a serotonergic agonist drug, Buspirone treatment. Twenty-six rats were trained for forelimb reaching and grasping followed by C4 dorsal funiculi crush injury. To deliver LIPUS, a silicon-coated ultrasound disc was implanted above the cervical cord and electromyography electrodes were implanted into forelimb muscles. In two cohorts (LIPUS and LIPUS + Buspirone combined) rats were tested pre-, with- and post-ultrasound stimulation. In LIPUS group rats, fore-limb reaching and grasping success rates first increased and then dropped after 3 weeks while for combination of drug and LIPUS stimulation the score continued to increase. Furthermore, LIPUS stimulation alone did not result in any significant improvement of grip strength compared to the control and combined groups. The findings of this study indicated the potential of LIPUS in SCI recovery and offer a future research direction of a new neuromodulation method.
{"title":"A novel therapeutic approach of ultrasound stimulation to restore forelimb functions following cervical cord injury in rats","authors":"Rakib Uddin Ahmed , Monzurul Alam , Shuai Li , Poornima Palanisamy , Hui Zhong , Yong-Ping Zheng","doi":"10.1016/j.jnrt.2023.100067","DOIUrl":"https://doi.org/10.1016/j.jnrt.2023.100067","url":null,"abstract":"<div><p>Low-intensity pulsed ultrasound (LIPUS) stimulation has shown promising results in neurorehabilitation following a traumatic injury in brain and peripheral nerves. However, the effects of LIPUS stimulation in the injured neural circuit after spinal cord injury (SCI) are still unknown. We investigated the effects of LIPUS on forelimb functions in chronic cervical cord injured rats with and without a serotonergic agonist drug, Buspirone treatment. Twenty-six rats were trained for forelimb reaching and grasping followed by C4 dorsal funiculi crush injury. To deliver LIPUS, a silicon-coated ultrasound disc was implanted above the cervical cord and electromyography electrodes were implanted into forelimb muscles. In two cohorts (LIPUS and LIPUS + Buspirone combined) rats were tested pre-, with- and post-ultrasound stimulation. In LIPUS group rats, fore-limb reaching and grasping success rates first increased and then dropped after 3 weeks while for combination of drug and LIPUS stimulation the score continued to increase. Furthermore, LIPUS stimulation alone did not result in any significant improvement of grip strength compared to the control and combined groups. The findings of this study indicated the potential of LIPUS in SCI recovery and offer a future research direction of a new neuromodulation method.</p></div>","PeriodicalId":44709,"journal":{"name":"Journal of Neurorestoratology","volume":"11 3","pages":"Article 100067"},"PeriodicalIF":3.3,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49874619","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-09-01DOI: 10.1016/j.jnrt.2023.100070
Xiaodong Guo , Jianzhong Hu , Shiqing Feng , Xiuwei Gao , Changkai Sun , Qiang Ao , Lin Chen , Lukui Chen , Ping Zhang , Yiwu Dai , Zuncheng Zheng , Hongyun Huang , Chinese Association of Neurorestoratology (Preparatory) and the China Committee of International Association of Neurorestoratology
Restoring neurological dysfunctions is challenging in patients with the sequels of vertebral and spinal cord lesions. Current guidelines focus on treating the early stage of vertebral and spinal cord lesions, such as tethered cord syndrome, syringomyelia, spinal degenerative diseases, spinal infection, ankylosing spondylitis, myelitis, vertebral and spinal cord vascular malformations, and others, whereas the treatments of the sequels of those lesions have received limited attention. Restoring neurological dysfunctions and damaged structures caused by these lesions could improve patient quality of life. The Chinese Association of Neurorestoratology (Preparatory) and the China Committee of International Association of Neurorestoratology therefore proposed and approved this guideline providing the restorative therapeutic rules and references for physicians to treat patients with neurological dysfunction of sequels from vertebral and spinal cord lesions.
{"title":"Clinical neurorestorative treatment guidelines for neurological dysfunctions of sequels from vertebral and spinal cord lesions (CANR 2023 version)","authors":"Xiaodong Guo , Jianzhong Hu , Shiqing Feng , Xiuwei Gao , Changkai Sun , Qiang Ao , Lin Chen , Lukui Chen , Ping Zhang , Yiwu Dai , Zuncheng Zheng , Hongyun Huang , Chinese Association of Neurorestoratology (Preparatory) and the China Committee of International Association of Neurorestoratology","doi":"10.1016/j.jnrt.2023.100070","DOIUrl":"10.1016/j.jnrt.2023.100070","url":null,"abstract":"<div><p>Restoring neurological dysfunctions is challenging in patients with the sequels of vertebral and spinal cord lesions. Current guidelines focus on treating the early stage of vertebral and spinal cord lesions, such as tethered cord syndrome, syringomyelia, spinal degenerative diseases, spinal infection, ankylosing spondylitis, myelitis, vertebral and spinal cord vascular malformations, and others, whereas the treatments of the sequels of those lesions have received limited attention. Restoring neurological dysfunctions and damaged structures caused by these lesions could improve patient quality of life. The Chinese Association of Neurorestoratology (Preparatory) and the China Committee of International Association of Neurorestoratology therefore proposed and approved this guideline providing the restorative therapeutic rules and references for physicians to treat patients with neurological dysfunction of sequels from vertebral and spinal cord lesions.</p></div>","PeriodicalId":44709,"journal":{"name":"Journal of Neurorestoratology","volume":"11 3","pages":"Article 100070"},"PeriodicalIF":3.3,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44950562","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-09-01DOI: 10.1016/j.jnrt.2023.100071
Priya Sharma, Meena Gupta, Ruchika Kalra
Non-progressive conditions that develop in the growing fetus or newborn brain and result in lifelong motor impairments and activity restrictions are collectively referred to as cerebral palsy. In the present review, recent advancements in the treatment of cerebral palsy are discussed. Studies are currently being conducted on high-tech aids such as telemedicine, robotics, virtual reality, telerehabilitation, and exoskeletons. In the current review, we focus on the effectiveness of interventions including neurologic music therapy, aquatic therapy, virtual reality, robotics, electrical stimulation, constraint-induced movement therapy, hippotherapy, and hyperbaric oxygen therapy. We also discuss the drugs used for the treatment of spasticity in cerebral palsy, as well as the effects of nutritional intake. Neurologic music therapy alongside physiotherapy leads to positive rehabilitation outcomes, as does treadmill gait training combined with robotics for lower limb improvements. Furthermore, kinesio taping is helpful for positioning the wrist, thumb, and fingers, and for reducing upper limb stiffness. Neurorestorative therapies such as cell therapy, brain–computer interface technology, and transcranial magnetic stimulation may also effectively restore neural networks in a positive direction in cerebral palsy. Finally, rehabilitation along with neurofeedback and biofeedback is considered helpful in patients with this neurological disorder.
{"title":"Recent advancements in interventions for cerebral palsy – A review","authors":"Priya Sharma, Meena Gupta, Ruchika Kalra","doi":"10.1016/j.jnrt.2023.100071","DOIUrl":"https://doi.org/10.1016/j.jnrt.2023.100071","url":null,"abstract":"<div><p>Non-progressive conditions that develop in the growing fetus or newborn brain and result in lifelong motor impairments and activity restrictions are collectively referred to as cerebral palsy. In the present review, recent advancements in the treatment of cerebral palsy are discussed. Studies are currently being conducted on high-tech aids such as telemedicine, robotics, virtual reality, telerehabilitation, and exoskeletons. In the current review, we focus on the effectiveness of interventions including neurologic music therapy, aquatic therapy, virtual reality, robotics, electrical stimulation, constraint-induced movement therapy, hippotherapy, and hyperbaric oxygen therapy. We also discuss the drugs used for the treatment of spasticity in cerebral palsy, as well as the effects of nutritional intake. Neurologic music therapy alongside physiotherapy leads to positive rehabilitation outcomes, as does treadmill gait training combined with robotics for lower limb improvements. Furthermore, kinesio taping is helpful for positioning the wrist, thumb, and fingers, and for reducing upper limb stiffness. Neurorestorative therapies such as cell therapy, brain–computer interface technology, and transcranial magnetic stimulation may also effectively restore neural networks in a positive direction in cerebral palsy. Finally, rehabilitation along with neurofeedback and biofeedback is considered helpful in patients with this neurological disorder.</p></div>","PeriodicalId":44709,"journal":{"name":"Journal of Neurorestoratology","volume":"11 3","pages":"Article 100071"},"PeriodicalIF":3.3,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49874618","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-07-01DOI: 10.1016/j.jnrt.2023.100071
Priya Sharma, Meena Gupta, Ruchika Kalra
{"title":"Recent Advancement in Interventions for Cerebral Palsy – A Review Study","authors":"Priya Sharma, Meena Gupta, Ruchika Kalra","doi":"10.1016/j.jnrt.2023.100071","DOIUrl":"https://doi.org/10.1016/j.jnrt.2023.100071","url":null,"abstract":"","PeriodicalId":44709,"journal":{"name":"Journal of Neurorestoratology","volume":" ","pages":""},"PeriodicalIF":3.3,"publicationDate":"2023-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43889947","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-06-01DOI: 10.1016/j.jnrt.2023.100057
Hongyun Huang, Paul R. Sanberg, Lin Chen, Michael Chopp, Hari Shanker Sharma
{"title":"Explanation and elaboration: Development of Beijing Declaration of International Association of Neurorestoratology","authors":"Hongyun Huang, Paul R. Sanberg, Lin Chen, Michael Chopp, Hari Shanker Sharma","doi":"10.1016/j.jnrt.2023.100057","DOIUrl":"10.1016/j.jnrt.2023.100057","url":null,"abstract":"","PeriodicalId":44709,"journal":{"name":"Journal of Neurorestoratology","volume":"11 2","pages":"Article 100057"},"PeriodicalIF":3.3,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45827118","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-06-01DOI: 10.1016/j.jnrt.2023.100053
Guange Yang , Conglei Song , Bin Yang , Shuizhen Zhou , Wenhui Li
Objective
To analyze the clinical manifestations and genetic examination results of affected members of two Chinese ATP1A2 gene variants pedigrees, and to summarize their phenotypic and genotypic features.
Methods
The clinical features were recorded in detailed. The cranial magnetic resonance imaging for patients and gene sequencing of two Chinese ATP1A2 gene variant pedigrees were perform. The correlation between the types of variants and the clinical phenotypes of ATP1A2 gene were analyzed.
Results
These two pedigrees are diagnosed as familial hemiplegic migraine type 2 (FHM2) with ATP1A2 heterozygous missense variants, c.1091C > T (p.T364M) found in pedigree 1 and c.899T > C (p.L300P) in pedigree 2. Multiple phenotypes coexist in both families, and the two probands have severe cranial magnetic resonance imaging manifesting hemiplegic contralateral cortical swelling and diffusion weighted imaging hyperintense signal, which can be fully recovered. ATP1A2 gene variants were seen in FHM2, sporadic hemiplegic migraine and atypical alternating hemiplegia of childhood (AHC) families or sporadic cases, etc. The clinical features of ATP1A2 variant c.1091C > T (p.T364M) are basically similar in Chinese patients and European patients.
Conclusion
These two Chinese pedigrees had FHM2 due to ATP1A2 heterozygous missense variation. It would expand the understanding of ATP1A2.
{"title":"Clinical features and genetic analysis of two Chinese ATP1A2 gene variants pedigrees of familial hemiplegic migraine","authors":"Guange Yang , Conglei Song , Bin Yang , Shuizhen Zhou , Wenhui Li","doi":"10.1016/j.jnrt.2023.100053","DOIUrl":"10.1016/j.jnrt.2023.100053","url":null,"abstract":"<div><h3>Objective</h3><p>To analyze the clinical manifestations and genetic examination results of affected members of two Chinese <em>ATP1A2</em> gene variants pedigrees, and to summarize their phenotypic and genotypic features.</p></div><div><h3>Methods</h3><p>The clinical features were recorded in detailed. The cranial magnetic resonance imaging for patients and gene sequencing of two Chinese <em>ATP1A2</em> gene variant pedigrees were perform. The correlation between the types of variants and the clinical phenotypes of <em>ATP1A2</em> gene were analyzed.</p></div><div><h3>Results</h3><p>These two pedigrees are diagnosed as familial hemiplegic migraine type 2 (FHM2) with <em>ATP1A2</em> heterozygous missense variants, c.1091C > T (p.T364M) found in pedigree 1 and c.899T > C (p.L300P) in pedigree 2. Multiple phenotypes coexist in both families, and the two probands have severe cranial magnetic resonance imaging manifesting hemiplegic contralateral cortical swelling and diffusion weighted imaging hyperintense signal, which can be fully recovered. <em>ATP1A2</em> gene variants were seen in FHM2, sporadic hemiplegic migraine and atypical alternating hemiplegia of childhood (AHC) families or sporadic cases, etc. The clinical features of <em>ATP1A2</em> variant c.1091C > T (p.T364M) are basically similar in Chinese patients and European patients.</p></div><div><h3>Conclusion</h3><p>These two Chinese pedigrees had FHM2 due to <em>ATP1A2</em> heterozygous missense variation. It would expand the understanding of <em>ATP1A2</em>.</p></div>","PeriodicalId":44709,"journal":{"name":"Journal of Neurorestoratology","volume":"11 2","pages":"Article 100053"},"PeriodicalIF":3.3,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47982215","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}