Neurology and Clinical Neuroscience最新文献_第10页

Disseminated small cortical lesions of stroke‐like episodes in a patient with MELAS with an m.3271 T > C mutation 伴有m.3271 tb> C突变的MELAS患者卒中样发作的弥散性小皮质病变

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Neurology and Clinical Neuroscience Pub Date : 2022-07-08 DOI: 10.1111/ncn3.12655

Ken‐ichi Shibata, T. Mukai, H. Nakagaki, S. Nagano

引用次数: 0

Autoimmunity to ion channels in neurological diseases Autoimmunity to aquaporin water channels 神经系统疾病对离子通道的自身免疫

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Neurology and Clinical Neuroscience Pub Date : 2022-06-28 DOI: 10.1111/ncn3.12653

Keiko Tanaka, Akiko Nagaishi, M. Matsui

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A case of successful renal transplantation of Charcot‐Marie‐Tooth disease associated with FSGS due to mutation of the INF2 gene 因INF2基因突变导致的与FSGS相关的Charcot - Marie - Tooth病肾移植成功一例

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Neurology and Clinical Neuroscience Pub Date : 2022-06-22 DOI: 10.1111/ncn3.12651

Chika Matsuoka, Yuki Taira, Ryo Sasaki, Namiko Matsumoto, Koh Tadokoro, Emi Nomura, Yuko Kawahara, M. Takemoto, R. Morihara, A. Hashiguchi, H. Takashima, Hidemi Takeuchi, M. Araki, K. Abe, T. Yamashita

引用次数: 0

A Japanese case of successful surgical resection of cerebral cavernous malformations with a CCM2 mutation 日本一例成功手术切除伴有CCM2突变的脑海绵状血管瘤

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Neurology and Clinical Neuroscience Pub Date : 2022-06-15 DOI: 10.1111/ncn3.12649

Emi Nomura, Y. Omote, M. Takemoto, N. Hishikawa, Y. Nakano, Taijun Yunoki, R. Morihara, Tatsuya Sasaki, H. Akagawa, K. Abe, T. Yamashita

引用次数: 0

Falsely “high” serum cobalamin level in subacute combined degeneration of spinal cord secondary to pernicious anemia masquerading as myelodysplastic syndrome 伪装成骨髓增生异常综合征继发于恶性贫血的亚急性脊髓合并变性患者血清钴胺素水平虚高

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Neurology and Clinical Neuroscience Pub Date : 2022-05-19 DOI: 10.1111/ncn3.12648

K. Yong, E. Yap, Y. Goh, L. Y. Tan, C. Choong, K. Ng

{"title":"Falsely “high” serum cobalamin level in subacute combined degeneration of spinal cord secondary to pernicious anemia masquerading as myelodysplastic syndrome","authors":"K. Yong, E. Yap, Y. Goh, L. Y. Tan, C. Choong, K. Ng","doi":"10.1111/ncn3.12648","DOIUrl":"https://doi.org/10.1111/ncn3.12648","url":null,"abstract":"Cobalamin deficiency causes clinical manifestations ranging from anemia to neuropsychiatric presentations. We present a patient initially treated as myelodysplastic syndrome (MDS), who was later diagnosed to have pernicious anemia. He presented with pancytopenia, and bone marrow aspirate was suggestive of MDS. Serum cobalamin was high. Six months later, he developed progressive lower limb weakness. Magnetic resonance imaging (MRI) of the spine showed a hyperintense signal in the lateral aspects of the cord at C6 to T10 suggestive of subacute combined degeneration of the spinal cord. Homocysteine, methylmalonic acid, and anti‐intrinsic factor levels were found to be high, confirming the diagnosis of cobalamin deficiency secondary to pernicious anemia. His pancytopenia and weakness improved markedly after 5 months of parenteral cobalamin injection. This case highlights that cobalamin deficiency can mimic MDS, and second‐line assays are important in a patient with a high clinical suspicion of cobalamin deficiency despite normal serum cobalamin level.","PeriodicalId":19154,"journal":{"name":"Neurology and Clinical Neuroscience","volume":"10 1","pages":"226 - 228"},"PeriodicalIF":0.4,"publicationDate":"2022-05-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49078399","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Hemodialysis and brain diseases in older individuals 血液透析与老年人脑部疾病

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Neurology and Clinical Neuroscience Pub Date : 2022-05-09 DOI: 10.1111/ncn3.12609

Ayako Iimura, R. Sakakibara, S. Sawai, Tsuyoshi Ogata, K. Terayama, Hirohito Mizuno, Shuichi Katsuragawa, T. Nagao, Masaaki Nemoto, Keiko Suzuki, Kaori Izawa, Shin‐ichi Haruki, Nobuyuki Okada, Y. Ohashi, K. Yamazaki

引用次数: 0

Issue Information 问题信息

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Neurology and Clinical Neuroscience Pub Date : 2022-05-01 DOI: 10.1111/ncn3.12608

引用次数: 0

Neurophysiological mechanisms of gait disturbance in advanced Parkinson's disease patients 晚期帕金森病患者步态障碍的神经生理机制

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Neurology and Clinical Neuroscience Pub Date : 2022-04-13 DOI: 10.1111/ncn3.12683

K. Takakusaki, Mirai Takahashi, T. Noguchi, R. Chiba

{"title":"Neurophysiological mechanisms of gait disturbance in advanced Parkinson's disease patients","authors":"K. Takakusaki, Mirai Takahashi, T. Noguchi, R. Chiba","doi":"10.1111/ncn3.12683","DOIUrl":"https://doi.org/10.1111/ncn3.12683","url":null,"abstract":"This review considers pathophysiological mechanisms of posture‐gait disturbances in Parkinson's disease (PD). Clinical studies have shown that posture‐gait disturbance attributes to the dysfunction of the whole neuraxis in addition to the musculoskeletal system. The cerebral cortex, basal ganglia (BG), cerebellum, brainstem, and spinal cord temporally and spatially integrate and coordinate multisensory feedback and efferent copies of the motor command. Therefore, the extensive repertoire of voluntary movements can be coupled with anticipatory and reactive postural adjustments to provide the framework for supporting and stabilizing the goal‐directed gait activity. Redundancies in the system allow adaptation and compensation through reward‐oriented and error‐based learning processes implemented through the BG and cerebellar pathways, respectively. However, the impairment of these systems in PD may considerably compromise the capacity to adapt and lead to maladaptive changes impairing posture‐gait control. When these impairments occur, the risk of falls can significantly increase, and interventions are required to reduce morbidity. The damage in dopamine (DA) neurons is the primary cause of PD. Insufficient DA supply in the striatum disturbs the operation of intrinsic networks in the BG. This also pathologically increases GABAergic BG output to the cerebral cortex and brainstem, resulting in functional disconnection of other structures from the BG. The disconnection makes PD patients disable to achieve habitually acquired automatized gait control. Moreover, Lewy body degeneration in most brain areas, particularly in cholinergic and other monoaminergic systems vulnerable to neurodegeneration, further disturbs posture‐gait control and alters non‐motor symptoms of PD.","PeriodicalId":19154,"journal":{"name":"Neurology and Clinical Neuroscience","volume":"11 1","pages":"201 - 217"},"PeriodicalIF":0.4,"publicationDate":"2022-04-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47178259","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 2

Transient post‐dengue parkinsonism 短暂性登革后帕金森病

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Neurology and Clinical Neuroscience Pub Date : 2022-04-08 DOI: 10.1111/ncn3.12603

Pei Shih Hoo, T. Ong

引用次数: 0

Nuclear envelope myopathy 核膜肌病

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Neurology and Clinical Neuroscience Pub Date : 2022-04-01 DOI: 10.1111/ncn3.12602

Y. Hayashi

引用次数: 0