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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
Neurology and Clinical Neuroscience Pub Date : 2023-05-30 DOI: 10.1111/ncn3.12760
T. Miyata, Fumiaki Yashima, Takaki Ichikawa, Katsuya Saito, J. Inamasu
{"title":"Pitfalls in the diagnosis of post‐TAVI (transcatheter aortic valve implantation) stroke","authors":"T. Miyata, Fumiaki Yashima, Takaki Ichikawa, Katsuya Saito, J. Inamasu","doi":"10.1111/ncn3.12760","DOIUrl":"https://doi.org/10.1111/ncn3.12760","url":null,"abstract":"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.","PeriodicalId":19154,"journal":{"name":"Neurology and Clinical Neuroscience","volume":null,"pages":null},"PeriodicalIF":0.4,"publicationDate":"2023-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49213796","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
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
Neurology and Clinical Neuroscience Pub Date : 2023-05-12 DOI: 10.1111/ncn3.12728
Takahiro Shimizu, R. Hanajima
{"title":"Physiological changes in advanced Parkinson's disease: Altered motor cortical plasticity and its significance in pathophysiology and clinical symptoms","authors":"Takahiro Shimizu, R. Hanajima","doi":"10.1111/ncn3.12728","DOIUrl":"https://doi.org/10.1111/ncn3.12728","url":null,"abstract":"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.","PeriodicalId":19154,"journal":{"name":"Neurology and Clinical Neuroscience","volume":null,"pages":null},"PeriodicalIF":0.4,"publicationDate":"2023-05-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48763750","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
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
Neurology and Clinical Neuroscience Pub Date : 2023-05-09 DOI: 10.1111/ncn3.12723
Camelia Porey
{"title":"An exceptional presentation of Charcot–Marie‐tooth 1C disease: Case report of a diagnostic dilemma","authors":"Camelia Porey","doi":"10.1111/ncn3.12723","DOIUrl":"https://doi.org/10.1111/ncn3.12723","url":null,"abstract":"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.","PeriodicalId":19154,"journal":{"name":"Neurology and Clinical Neuroscience","volume":null,"pages":null},"PeriodicalIF":0.4,"publicationDate":"2023-05-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44099434","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
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
Neurology and Clinical Neuroscience 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
{"title":"Cerebral creatine deficiency syndrome with a novel missense variant in SLC6A8 gene","authors":"B. Turan, E. Göktaş, F. M. Sönmez, H. Aydın, Demet Aydoğdu, A. Zamani, M. Yıldırım","doi":"10.1111/ncn3.12726","DOIUrl":"https://doi.org/10.1111/ncn3.12726","url":null,"abstract":"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.","PeriodicalId":19154,"journal":{"name":"Neurology and Clinical Neuroscience","volume":null,"pages":null},"PeriodicalIF":0.4,"publicationDate":"2023-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43317955","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
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
Neurology and Clinical Neuroscience Pub Date : 2023-05-07 DOI: 10.1111/ncn3.12724
R. Ghorpade, Rahul Vojjini, F. Tissavirasingham, Negin Khosravi, Manav Rawal, Eric Bracken, Sunitha Vemulapalli
{"title":"A rare case of acute embolic stroke related with undifferentiated pleomorphic sarcoma","authors":"R. Ghorpade, Rahul Vojjini, F. Tissavirasingham, Negin Khosravi, Manav Rawal, Eric Bracken, Sunitha Vemulapalli","doi":"10.1111/ncn3.12724","DOIUrl":"https://doi.org/10.1111/ncn3.12724","url":null,"abstract":"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.","PeriodicalId":19154,"journal":{"name":"Neurology and Clinical Neuroscience","volume":null,"pages":null},"PeriodicalIF":0.4,"publicationDate":"2023-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41832261","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
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
Neurology and Clinical Neuroscience Pub Date : 2023-05-07 DOI: 10.1111/ncn3.12727
J. Crowe, A. Bender, I. Migdady, Saef Izzy
{"title":"HSV encephalitis relapse in the setting of chemotherapy","authors":"J. Crowe, A. Bender, I. Migdady, Saef Izzy","doi":"10.1111/ncn3.12727","DOIUrl":"https://doi.org/10.1111/ncn3.12727","url":null,"abstract":"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.","PeriodicalId":19154,"journal":{"name":"Neurology and Clinical Neuroscience","volume":null,"pages":null},"PeriodicalIF":0.4,"publicationDate":"2023-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"63478605","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
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
Neurology and Clinical Neuroscience Pub Date : 2023-05-06 DOI: 10.1111/ncn3.12725
M. Cappellari, C. Zivelonghi, N. Micheletti, L. Mezzetto, Raffaelle Augelli
{"title":"Carotid artery stenting or carotid endarterectomy for residual significant stenosis after thrombectomy in acute tandem occlusion stroke?","authors":"M. Cappellari, C. Zivelonghi, N. Micheletti, L. Mezzetto, Raffaelle Augelli","doi":"10.1111/ncn3.12725","DOIUrl":"https://doi.org/10.1111/ncn3.12725","url":null,"abstract":"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.","PeriodicalId":19154,"journal":{"name":"Neurology and Clinical Neuroscience","volume":null,"pages":null},"PeriodicalIF":0.4,"publicationDate":"2023-05-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46090916","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
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
Neurology and Clinical Neuroscience 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
{"title":"A case of acute disseminated encephalomyelitis precipitated by Venetoclax","authors":"A. Landman, Z. Chaudhry, Jorge L. Morales, Rupindra Singh, Michelle Nunes, Roberta Santos, Paola Colon‐Figueroa, F. Rossi, Afra Janarious","doi":"10.1111/ncn3.12722","DOIUrl":"https://doi.org/10.1111/ncn3.12722","url":null,"abstract":"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","PeriodicalId":19154,"journal":{"name":"Neurology and Clinical Neuroscience","volume":null,"pages":null},"PeriodicalIF":0.4,"publicationDate":"2023-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42441408","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
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
Neurology and Clinical Neuroscience Pub Date : 2023-04-28 DOI: 10.1111/ncn3.12721
Yoya Ono, K. Higashida, A. Takekoshi, A. Kimura, T. Shimohata
{"title":"Autoimmune encephalitis presenting with atypical parkinsonism: A case report and review of the literature","authors":"Yoya Ono, K. Higashida, A. Takekoshi, A. Kimura, T. Shimohata","doi":"10.1111/ncn3.12721","DOIUrl":"https://doi.org/10.1111/ncn3.12721","url":null,"abstract":"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.","PeriodicalId":19154,"journal":{"name":"Neurology and Clinical Neuroscience","volume":null,"pages":null},"PeriodicalIF":0.4,"publicationDate":"2023-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45214367","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
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
Neurology and Clinical Neuroscience Pub Date : 2023-04-25 DOI: 10.1111/ncn3.12719
Mai Marumori, K. Sakuta, S. Miyagawa, H. Yaguchi
{"title":"Sudden bilateral hearing loss due to vertebral artery dissection","authors":"Mai Marumori, K. Sakuta, S. Miyagawa, H. Yaguchi","doi":"10.1111/ncn3.12719","DOIUrl":"https://doi.org/10.1111/ncn3.12719","url":null,"abstract":"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.","PeriodicalId":19154,"journal":{"name":"Neurology and Clinical Neuroscience","volume":null,"pages":null},"PeriodicalIF":0.4,"publicationDate":"2023-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45014079","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
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