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Pitfalls in the diagnosis of post‐TAVI (transcatheter aortic valve implantation) stroke TAVI(经导管主动脉瓣植入术)后卒中的诊断缺陷
IF 0.4 Pub Date : 2023-05-30 DOI: 10.1111/ncn3.12760
T. Miyata, Fumiaki Yashima, Takaki Ichikawa, Katsuya Saito, J. Inamasu
Stroke is an infrequent yet well‐known complication of transcatheter aortic valve implantation (TAVI). While mechanical thrombectomy (MT) is a useful rescue procedure in patients with symptomatic post‐TAVI stroke, it should be reminded that embolic materials derived from degenerated aortic valve have heterogeneities. We describe a case of post‐TAVI stroke in which a calcified debris caused embolic occlusion of the left middle cerebral artery. The calcified embolus eluded detection on magnetic resonance imaging (MRI), which might have been responsible, at least in part, for unsuccessful MT. Formation of calcified debris may not be rare after TAVI, and therefore, brain CT may be given priority as an imaging modality in the initial evaluation of patients suspected of post‐TAVI stroke.
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引用次数: 0
Physiological changes in advanced Parkinson's disease: Altered motor cortical plasticity and its significance in pathophysiology and clinical symptoms 晚期帕金森病的生理变化:运动皮质可塑性的改变及其在病理生理和临床症状中的意义
IF 0.4 Pub Date : 2023-05-12 DOI: 10.1111/ncn3.12728
Takahiro Shimizu, R. Hanajima
Parkinson's disease (PD) is a progressive neurodegenerative disorder characterized by dopaminergic neurodegeneration in the substantia nigra. Dopamine plays an important role in the induction of synaptic plasticity, and plastic changes in the brain have been broadly investigated in PD. In humans, non‐invasive transcranial magnetic stimulation (TMS) has been widely used for plasticity induction in the motor cortex. In this review, we will discuss how dopamine receptors are involved in the induction of neuroplasticity, changes in corticostriatal plasticity in PD model animals, effects of dopamine on motor cortical plasticity in healthy humans, changes in motor cortical plasticity in PD patients including its relationship to motor symptoms, and, finally, altered plasticity in levodopa‐induced dyskinesia.
帕金森病(PD)是一种以黑质多巴胺能神经变性为特征的进行性神经退行性疾病。多巴胺在突触可塑性的诱导中起着重要作用,PD中大脑的可塑性变化已被广泛研究。在人类中,非侵入性经颅磁刺激(TMS)已被广泛用于运动皮层的可塑性诱导。在这篇综述中,我们将讨论多巴胺受体如何参与神经可塑性的诱导,PD模型动物皮质纹状体可塑性的变化,多巴胺对健康人运动皮质可塑性的影响,PD患者运动皮质可塑性的变化及其与运动症状的关系,最后,左旋多巴诱导的运动障碍的可塑性改变。
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引用次数: 0
An exceptional presentation of Charcot–Marie‐tooth 1C disease: Case report of a diagnostic dilemma Charcot-Marie - tooth 1C疾病的特殊表现:诊断困境的病例报告
IF 0.4 Pub Date : 2023-05-09 DOI: 10.1111/ncn3.12723
Camelia Porey
Charcot–Marie‐Tooth (CMT) disease is the commonest form of hereditary sensorimotor neuropathy and presents with a vast plethora of phenotypes and genetic mutations. CMT1C is a rarer variant presenting with lower limb predominant sensorimotor involvement, associated with LITAF/SIMPLE gene mutation. We describe a case of an 18‐year‐old male with progressive asymmetrical upper limb weakness and atrophy with an extensive epidural arachnoid cyst in cervicothoracic spine. Nerve conduction study and genetic analysis aided the diagnosis of CMIT1C. This is the first case reported with the coexistence of the two pathologies that may turn out to be a phenotype of the same disease spectrum in future research.
Charcot-Marie - Tooth (CMT)病是遗传性感觉运动神经病变最常见的形式,具有大量的表型和基因突变。CMT1C是一种罕见的变异,表现为下肢主要感觉运动受累,与LITAF/SIMPLE基因突变有关。我们报告一例18岁男性,其进行性不对称上肢无力和萎缩伴颈胸椎广泛硬膜外蛛网膜囊肿。神经传导研究和基因分析有助于CMIT1C的诊断。这是首次报道的两种病理共存的病例,在未来的研究中可能成为同一疾病谱系的一种表型。
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引用次数: 0
Cerebral creatine deficiency syndrome with a novel missense variant in SLC6A8 gene SLC6A8基因一个新的错义变体引起的脑肌酸缺乏综合征
IF 0.4 Pub Date : 2023-05-07 DOI: 10.1111/ncn3.12726
B. Turan, E. Göktaş, F. M. Sönmez, H. Aydın, Demet Aydoğdu, A. Zamani, M. Yıldırım
Cerebral creatine deficiency syndromes (CCDS) are three metabolic diseases characterized by loss of function in three proteins (GATM, GAMT, and SLC6A8) that required in creatine (Cr) synthesis pathway and transport. In this study, we aimed to identify the causal variant in a male who was 12‐year‐old manifesting intellectual disability (ID), seizures, expressive dysphasia and autism‐like behavior. Urinary Cr metabolite measurements and MRI‐spectroscopy (MRS) findings were consistent with CCDS. Molecular analysis revealed de novo hemizygous SLC6A8 (NM_005629.4): c.1400 T > G (p.Met467Arg) variant. The variant was not found in ClinVar, (the date of access: April 23th, 2023) and population databases (ExAC, gnomAD, 1000 Genomes, ESP 6500, Turkish Variome, GenomeAsia, Iranome, GME Variome, TOPMed Bravo and 4.7KJPN), it alters the physicochemical properties of the amino acid, the region is moderately conserved across species and in‐silico prediction tools (REVEL, CADD, SIFT, PolyPhen2, Mutation Taster, MetaLR, MCAP, MetaRNN and MutPred) unanimously emphasize pathogenicity. Based on this evidence, the variant was interpreted as “likely pathogenic” according to the ACMG criteria (PS2, PM2,PP3, and PP4‐S). This report may further elucidate the nature and phenotypic consequences of SLC6A8 variants.
脑肌酸缺乏综合征(CCDS)是三种代谢性疾病,其特征是肌酸(Cr)合成途径和转运所需的三种蛋白质(GATM、GAMT和SLC6A8)功能丧失。在这项研究中,我们旨在确定一名12岁男性的因果变异,该男性表现出智力残疾(ID)、癫痫发作、表达性言语障碍和自闭症样行为。尿Cr代谢产物测量和核磁共振波谱(MRS)结果与CCDS一致。分子分析显示新的半合子SLC6A8(NM_005629.4):c.1400 T > G(p.Met467Arg)变体。在ClinVar(访问日期:2023年4月23日)和人群数据库(ExAC、gnomAD、1000基因组、ESP 6500、土耳其变体、GenomeAsia、Iranome、GME变体、TOPMed Bravo和4.7KJPN)中未发现该变体,它改变了氨基酸的理化性质,该区域在物种间适度保守,计算机预测工具(REVEL、CADD、SIFT、PolyPhen2、突变品尝器、MetaLR、MCAP、MetaRNN和MutPred)一致强调致病性。基于这一证据,根据ACMG标准(PS2、PM2、PP3和PP4-S),该变体被解释为“可能致病”。本报告可能进一步阐明SLC6A8变体的性质和表型后果。
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引用次数: 0
A rare case of acute embolic stroke related with undifferentiated pleomorphic sarcoma 急性栓塞性脑卒中合并未分化多形性肉瘤1例
IF 0.4 Pub Date : 2023-05-07 DOI: 10.1111/ncn3.12724
R. Ghorpade, Rahul Vojjini, F. Tissavirasingham, Negin Khosravi, Manav Rawal, Eric Bracken, Sunitha Vemulapalli
Undifferentiated pleomorphic sarcoma is uncommonly seen and can be present in soft tissue as a slow‐growing and painless mass. The usual presenting symptoms of these tumors are swelling, pain, and constitutional symptoms. However, an initial presentation of pleomorphic sarcoma as an embolic stroke is rarely seen. We report a patient who presented with cerebellar stroke and had widespread pulmonary nodules on chest X‐ray. The Computed Tomography (CT)‐guided biopsy of the pulmonary nodules revealed a diagnosis of undifferentiated pleomorphic sarcoma. These findings prompted a thorough physical examination in search of malignancy. Unfortunately, the patient was found to have left leg swelling, which was missed on the initial exam, delaying diagnosis and management. Additionally, the patient was found to have a patent foramen ovale (PFO) on transesophageal echocardiogram (TEE). However, no source of emboli was found.
未分化多形性肉瘤是罕见的,可作为生长缓慢且无痛的肿块出现在软组织中。这些肿瘤的常见症状是肿胀、疼痛和体质症状。然而,多形性肉瘤作为栓塞性中风的最初表现很少见到。我们报告了一名患者,他表现为小脑卒中,胸部X光片上有广泛的肺结节。计算机断层扫描(CT)引导的肺结节活检显示诊断为未分化多形性肉瘤。这些发现促使人们对恶性肿瘤进行彻底的体格检查。不幸的是,患者被发现左腿肿胀,这在最初的检查中被遗漏了,延误了诊断和治疗。此外,经食道超声心动图(TEE)发现患者有卵圆孔未闭(PFO)。然而,没有发现栓塞的来源。
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引用次数: 0
HSV encephalitis relapse in the setting of chemotherapy 单纯疱疹脑炎在化疗的背景下复发
IF 0.4 Pub Date : 2023-05-07 DOI: 10.1111/ncn3.12727
J. Crowe, A. Bender, I. Migdady, Saef Izzy
Patients who suffer a brain injury trigger are vulnerable to late relapse of herpes simplex encephalitis. We present an immunocompromised patient with late‐life relapse of herpes simplex encephalitis after an ischemic stroke.
遭受脑损伤触发的患者很容易出现单纯疱疹脑炎晚期复发。我们报告了一位免疫功能低下的患者,在缺血性中风后晚期复发单纯疱疹脑炎。
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引用次数: 0
Carotid artery stenting or carotid endarterectomy for residual significant stenosis after thrombectomy in acute tandem occlusion stroke? 急性串联闭塞性脑卒中取栓后颈动脉支架置入术还是颈动脉内膜切除术?
IF 0.4 Pub Date : 2023-05-06 DOI: 10.1111/ncn3.12725
M. Cappellari, C. Zivelonghi, N. Micheletti, L. Mezzetto, Raffaelle Augelli
A 82‐year‐old male presented with right‐sided hemiplegia and aphasia. CT‐scan showed hyperdensity of the left middle cerebral artery (MCA). CT‐angiography revealed occlusion of the left MCA and intra‐cranial internal carotid artery (ICA) in combination with occlusion of the left extra‐cranial ICA. Complete recanalization of intra‐cranial vessels was obtained after thrombectomy within 6 h from symptom onset, but residual significant extra‐cranial stenosis remained. Non‐contrast CT‐scan after thrombectomy revealed large hyperdensities secondary to contrast extravasation in the left MCA territory. Residual extra‐cranial ICA stenosis was not treated with emergent stenting. At 24 h, NIHSS score was 0, but follow‐up CT‐scan showed an ischemic lesion with spontaneous hemorrhagic transformation. A single antiplatelet treatment was reintroduced after 24 h and carotid endarterectomy was done without complications after 2 weeks.
一位82岁男性病患,表现为右侧偏瘫及失语。CT扫描显示左侧大脑中动脉(MCA)高密度。CT血管造影显示左MCA和颅内颈内动脉(ICA)合并左颅外ICA闭塞。在症状出现后6小时内取栓后,颅内血管得以完全再通,但仍存在明显的颅外狭窄。血栓切除术后的非对比CT扫描显示左MCA区域继发于对比剂外渗的高密度。残余的颅外ICA狭窄未采用紧急支架置入治疗。24 h时,NIHSS评分为0,但随访CT扫描显示缺血性病变伴自发性出血转化。24小时后再次进行单次抗血小板治疗,2周后进行颈动脉内膜切除术,无并发症。
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引用次数: 0
A case of acute disseminated encephalomyelitis precipitated by Venetoclax 由Venetoclax诱发急性播散性脑脊髓炎1例
IF 0.4 Pub Date : 2023-04-28 DOI: 10.1111/ncn3.12722
A. Landman, Z. Chaudhry, Jorge L. Morales, Rupindra Singh, Michelle Nunes, Roberta Santos, Paola Colon‐Figueroa, F. Rossi, Afra Janarious
1Department of Neurology, UCF/HCA Healthcare Graduate Medical Education Consortium Neurology Residency Program of Greater Orlando, Orlando, Florida, USA 2Osceola Regional Medical Center, Kissimmee, Florida, USA 3Department of Neurology, University of Miami Miller School of Medicine, Miami, Florida, USA 4Department of Neurology, University of Florida, Jacksonville, Florida, USA 5Department of Neurology, Orlando Veteran Affairs Healthcare System, Orlando, Florida, USA
1美国佛罗里达州奥兰多市大奥兰多市UCF/HCA医疗保健研究生医学教育联盟神经病学住院项目神经病学系2美国佛罗里达州基西米市Sceola地区医疗中心3美国佛罗里达州迈阿密市迈阿密大学米勒医学院神经病学系4佛罗里达州杰克逊维尔市佛罗里达大学神经病学系,美国5美国佛罗里达州奥兰多市奥兰多退伍军人事务医疗保健系统神经科
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引用次数: 0
Autoimmune encephalitis presenting with atypical parkinsonism: A case report and review of the literature 以非典型帕金森病为表现的自身免疫性脑炎:1例报告及文献复习
IF 0.4 Pub Date : 2023-04-28 DOI: 10.1111/ncn3.12721
Yoya Ono, K. Higashida, A. Takekoshi, A. Kimura, T. Shimohata
An 81‐year‐old man developed axial rigidity, bradykinesia, and cognitive impairment within 6 weeks. On initial examination, he was misdiagnosed with progressive supranuclear palsy (PSP). Brain magnetic resonance imaging showed hyperintensities in the bilateral mesial temporal lobes and basal ganglia. Neuronal antibodies previously reported in autoimmune encephalitis mimicking PSP were negative. Immunohistochemical and immunocytochemical analysis revealed the autoantibodies recognized neuronal surface and intracellular antigens. The diagnostic criteria for probable autoimmune encephalitis were fulfilled. We diagnosed him with autoimmune encephalitis. Intravenous immunoglobulin and steroid therapy improved his symptoms. The presence of novel autoantibodies causing autoimmune encephalitis presenting with atypical parkinsonism was suggested.
一例81岁男性患者在6周内出现轴向僵硬、运动迟缓和认知障碍。在初步检查时,他被误诊为进行性核上性麻痹(PSP)。脑磁共振成像显示双侧内侧颞叶和基底神经节高信号。先前报道的模拟PSP的自身免疫性脑炎的神经元抗体为阴性。免疫组织化学和免疫细胞化学分析显示自身抗体识别神经元表面和细胞内抗原。符合可能为自身免疫性脑炎的诊断标准。我们诊断他患有自身免疫性脑炎静脉注射免疫球蛋白和类固醇治疗改善了他的症状。存在新的自身抗体引起自身免疫性脑炎表现为不典型帕金森病。
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引用次数: 0
Sudden bilateral hearing loss due to vertebral artery dissection 椎动脉夹层致双侧突然听力损失
IF 0.4 Pub Date : 2023-04-25 DOI: 10.1111/ncn3.12719
Mai Marumori, K. Sakuta, S. Miyagawa, H. Yaguchi
A 69‐year‐old man suddenly developed bilateral hearing impairment and dizziness. Magnetic resonance imaging showed multiple infarctions in the area of the bilateral posterior circulation, and magnetic resonance angiography showed a completely occluded right vertebral artery (VA) and severe stenosis of the left VA. Pearl and string sign was detected in the left VA by cerebral angiography, leading to the diagnosis of arterial dissection. The infarctions in the anterior inferior cerebellar artery area were considered a result of artery‐to‐artery embolism. He regained his hearing gradually and was discharged in 2 weeks. Acute ischemic stroke with bilateral hearing loss is generally accompanied by proximal severe vascular legions, with poor outcome. Prognosis may depend on the underlying vascular pathology.
一名69岁男子突然出现双侧听力障碍和头晕。磁共振示双侧后循环区多发梗死,磁共振血管造影示右侧椎动脉(VA)完全闭塞,左侧椎动脉严重狭窄,脑血管造影示左侧椎动脉珍珠、弦征,诊断为动脉夹层。小脑前下动脉区域的梗死被认为是动脉对动脉栓塞的结果。患者听力逐渐恢复,2周后出院。急性缺血性脑卒中伴双侧听力损失常伴有近端严重血管损伤,预后较差。预后可能取决于潜在的血管病理。
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引用次数: 0
期刊
Neurology and Clinical Neuroscience
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