Neurocase最新文献

An advancement of intraoperative language mapping in awake craniotomy. 清醒开颅术中语言定位的研究进展。

IF 0.8 4区医学

Neurocase Pub Date : 2026-05-05 DOI: 10.1080/13554794.2026.2666421

Rhiannon MacKenzie-Phelan, Francis McGlone, Samantha Brooks, Daniel Roberts

{"title":"An advancement of intraoperative language mapping in awake craniotomy.","authors":"Rhiannon MacKenzie-Phelan, Francis McGlone, Samantha Brooks, Daniel Roberts","doi":"10.1080/13554794.2026.2666421","DOIUrl":"https://doi.org/10.1080/13554794.2026.2666421","url":null,"abstract":"Direct electrical stimulation (DES) during awake craniotomy is the gold-standard for language mapping; however, conventional tasks (e.g. counting, object naming, reading) provide limited sensitivity to grammatical and sentence-level processes. The present study introduces the first intraoperative application of the English Verb and Noun Test for Perioperative testing (VAN-POP), a sentence-based paradigm designed to probe object and action naming with finite verbs in past and present tense. VAN-POP was administered to four UK English-speaking patients undergoing awake craniotomy for WHO grade II-III gliomas involving frontal, temporal, or parietal regions. Language-positive sites were identified in three patients, and real-time monitoring revealed language disruptions in three patients. DES elicited action naming disruptions in two patients. Middle and inferior frontal stimulation induced tense errors and verbal-visual paraphasias, whilst angular gyrus stimulation induced speech arrest. During resection, three patients exhibited action naming disruptions, including semantic and morphosyntactic errors, anomia, and delays. Postoperatively, no patients showed clinically significant deficits requiring speech and language therapy. These findings demonstrate that VAN-POP is feasible for intraoperative use and increases sensitivity to grammar-related cortical sites beyond conventional mapping approaches. Incorporating finite verb production within DES protocols may improve delineation of language networks, supporting better preservation of function.","PeriodicalId":49762,"journal":{"name":"Neurocase","volume":" ","pages":"1-18"},"PeriodicalIF":0.8,"publicationDate":"2026-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147845343","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}

引用次数: 0

Opsoclonus myoclonus syndrome in an HIV patient, following plasmodium falciparum infection. 恶性疟原虫感染后HIV患者的肌阵挛综合征。

IF 0.8 4区医学

Neurocase Pub Date : 2026-05-04 DOI: 10.1080/13554794.2026.2667447

Ewodo Touna Hilaire Dominique, Kenmegne Caroline, Gams Massi Daniel, Samuel Eric Tchokote, Magnerou Annick Mélanie, Noutsa Laura, Ikome Gishlen, Makuete Diffo Sandrine, Din Gana Nahgwa Sandra, Shehou Ahmadou Tidjani Mahaman, Mouafo Tsona Joelle Raissa, Mapoure Njankouo Yacouba

{"title":"Opsoclonus myoclonus syndrome in an HIV patient, following plasmodium falciparum infection.","authors":"Ewodo Touna Hilaire Dominique, Kenmegne Caroline, Gams Massi Daniel, Samuel Eric Tchokote, Magnerou Annick Mélanie, Noutsa Laura, Ikome Gishlen, Makuete Diffo Sandrine, Din Gana Nahgwa Sandra, Shehou Ahmadou Tidjani Mahaman, Mouafo Tsona Joelle Raissa, Mapoure Njankouo Yacouba","doi":"10.1080/13554794.2026.2667447","DOIUrl":"https://doi.org/10.1080/13554794.2026.2667447","url":null,"abstract":"Opsoclonus myoclonus syndrome (OMS) is a rare inflammatory disease of the central nervous system characterized by ocular movements, ataxia, irritability, myoclonus, and sleep disturbances and is thought to result from variable etiologies. We report a case of OMS following severe malaria in a patient living with Human Immunodeficiency Virus (HIV). This is a 47-year-old woman, known to be HIV-positive, for the past 6 years, and on highly active antiretroviral therapy (HAART) with Tenofovir-Lamivudine-Atazanavir, to which she is strictly compliant. Her last viral load was undetectable. Two weeks after being treated for severe malaria due to Plasmodium falciparum, the patient presented with multidirectional ocular saccades associated with trunk myoclonus. This was subsequently followed by aggressive behavior sleep disturbances, and severe ataxia. The diagnosis of post-infectious opsoclonus-myoclonus was made after ruling out an HIV-related central nervous system (CNS) infection and a paraneoplastic origin. Initial management consisted of high doses of intravenous (IV) methylprednisolone which resulted in partial improvement of the symptoms. The subsequent addition of rituximab led to complete resolution of the symptoms and the restoration of functional autonomy. This case suggests a possible relationship between malaria and OMS in the context of HIV infection and highlights the potential benefit of an IV corticosteroid and rituximab combination therapy as a substitute for IV immunoglobulins in resource-limited settings.","PeriodicalId":49762,"journal":{"name":"Neurocase","volume":" ","pages":"1-4"},"PeriodicalIF":0.8,"publicationDate":"2026-05-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147822861","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}

引用次数: 0

A case of Joubert Syndrome and NPC1 mutation in a 7-year-old girl: presented with neuromotor developmental delay and ataxia. 7岁女童Joubert综合征和NPC1突变1例：表现为神经运动发育迟缓和共济失调。

IF 0.8 4区医学

Neurocase Pub Date : 2026-04-14 DOI: 10.1080/13554794.2026.2659031

B Diler Durgut, A Türkyılmaz

{"title":"A case of Joubert Syndrome and NPC1 mutation in a 7-year-old girl: presented with neuromotor developmental delay and ataxia.","authors":"B Diler Durgut, A Türkyılmaz","doi":"10.1080/13554794.2026.2659031","DOIUrl":"https://doi.org/10.1080/13554794.2026.2659031","url":null,"abstract":"Joubert Syndrome (JS) is a rare neurodevelopmental disorder characterized by cerebellar ataxia, oculomotor apraxia, and the characteristic \"molar tooth sign\" on brain MRI. Niemann - Pick Disease Type C (NPC) is an autosomal recessive lysosomal storage disorder associated with progressive neurological involvement, including ataxia and vertical supranuclear gaze palsy. Although these disorders have distinct genetic and pathophysiological mechanisms, they share overlapping clinical features such as ataxia, oculomotor abnormalities, and developmental delay, which may complicate the diagnostic process. We evaluated a 7-year-old Afghan girl with speech impairment and neuromotor developmental delay. Neurological and radiological assessments were conducted, followed by genetic analysis using next-generation sequencing to explore underlying mutations. Neurological examination revealed cerebellar ataxia, oculomotor apraxia, and dysmetria, consistent with JS. Brain MRI demonstrated the characteristic molar tooth sign. Genetic testing identified homozygous mutations in the NPC1 gene (c.1123A > G, p.Thr375Ala) and the AHI1 gene (c.2671C > T, p.R891). Despite the NPC1 mutation, no classical signs of NPC - such as vertical gaze palsy or clinical deterioration - were observed. Family history revealed a bedridden cousin, though no diagnostic information was available. Based on genetic findings, miglustat therapy was initiated. This case illustrates the diagnostic challenges arising from coexisting pathogenic mutations in genes associated with different neurological syndromes. Although clinical features primarily aligned with Joubert Syndrome, the possibility of subclinical or emerging Niemann-Pick Disease Type C could not be excluded. Genetic overlap emphasizes the importance of integrated clinical and molecular evaluation in rare neurogenetic disorders.","PeriodicalId":49762,"journal":{"name":"Neurocase","volume":" ","pages":"1-4"},"PeriodicalIF":0.8,"publicationDate":"2026-04-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147678405","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}

引用次数: 0

Stimulation of the human periaqueductal gray induces threat bradycardia: a case report. 人体导水管周围灰质刺激诱发威胁性心动过缓1例报告。

IF 0.8 4区医学

Neurocase Pub Date : 2026-04-02 DOI: 10.1080/13554794.2026.2640909

Felix H Klaassen, Lycia D de Voogd, Anneloes M Hulsman, Floris Klumpers, Sarah M Farrell, Alexander L Green, Pepijn van den Munckhof, Karin Roelofs

{"title":"Stimulation of the human periaqueductal gray induces threat bradycardia: a case report.","authors":"Felix H Klaassen, Lycia D de Voogd, Anneloes M Hulsman, Floris Klumpers, Sarah M Farrell, Alexander L Green, Pepijn van den Munckhof, Karin Roelofs","doi":"10.1080/13554794.2026.2640909","DOIUrl":"https://doi.org/10.1080/13554794.2026.2640909","url":null,"abstract":"The ability to recognize and anticipate potential danger is crucial for survival across species. The midbrain periaqueductal gray (PAG) is implicated in regulating threat-anticipatory responses, including heart rate deceleration (threat bradycardia) which is typically observed during freezing. Although animal studies have provided causal evidence that the PAG regulates threat-anticipatory bradycardia, causal evidence does not exist in humans. To address this translational gap, we performed a single-case study to elucidate the causal role of the human PAG in threat-anticipatory bradycardia using deep brain stimulation (DBS). We report on a participant who received PAG DBS for chronic pain treatment. The participant performed an instructed fear task during which cues were presented signaling either threat of electrical shock or safety. During the task, we applied DBS in the PAG, no DBS, or DBS at a control site bordering the PAG. Deep brain stimulation in the PAG significantly increased threat bradycardia responses (i.e. reduced heart rate for threat vs. safety) compared to no stimulation, whereas control-site stimulation bordering the PAG did not significantly affect threat bradycardia. Together, this single-case report provides causal evidence that the human PAG regulates threat bradycardia responses, furthering our understanding of the neural circuit underlying defensive reactions in humans.","PeriodicalId":49762,"journal":{"name":"Neurocase","volume":" ","pages":"1-11"},"PeriodicalIF":0.8,"publicationDate":"2026-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147610513","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}

引用次数: 0

Editorial Neurocase. 编辑编号。

IF 0.8 4区医学

Neurocase Pub Date : 2026-02-01 Epub Date: 2026-03-08 DOI: 10.1080/13554794.2026.2635887

Marc W Haut

引用次数: 0

A novel mutation in colony-stimulating factor 1 receptor (CSF1R) causing CSF1R-related disorder (CSF1R-RD). 集落刺激因子1受体（CSF1R）突变导致CSF1R相关疾病（CSF1R- rd）

IF 0.8 4区医学

Neurocase Pub Date : 2026-02-01 Epub Date: 2026-02-04 DOI: 10.1080/13554794.2026.2613957

Anup N Sonti, Elizabeth Joe, Jillian V Berry, Michelle McDonnell, Seyed Ahmad Sajjadi, Nasim Sheik-Bahaei, Lilyana Amezcua, Danielle Feigenbaum, Mark F Lew, Matthew Blurton-Jones, Elizabeth Head, John M Ringman

引用次数: 0

Beyond motor impairment: investigating cognitive aspects of hereditary spastic paraplegia in a Greek case series. 超越运动障碍：在希腊病例系列中调查遗传性痉挛性截瘫的认知方面。

IF 0.8 4区医学

Neurocase Pub Date : 2026-02-01 Epub Date: 2026-03-02 DOI: 10.1080/13554794.2026.2635354

Alex Malioukis, Dimitrios Kasselimis, Georgia Angelopoulou, Dimitrios Tsolakopoulos, Zoi Nikitopoulou, Georgia Karadima, Georgios Koutsis, Constantin Potagas

{"title":"Beyond motor impairment: investigating cognitive aspects of hereditary spastic paraplegia in a Greek case series.","authors":"Alex Malioukis, Dimitrios Kasselimis, Georgia Angelopoulou, Dimitrios Tsolakopoulos, Zoi Nikitopoulou, Georgia Karadima, Georgios Koutsis, Constantin Potagas","doi":"10.1080/13554794.2026.2635354","DOIUrl":"10.1080/13554794.2026.2635354","url":null,"abstract":"Hereditary spastic paraplegia (HSP) is a heterogeneous group of inherited disorders primarily characterized by progressive spasticity and lower extremity weakness. Traditionally associated with corticospinal tract dysfunction, HSP was long presumed to leave cognitive function largely unaffected. However, growing evidence increasingly recognizes cognitive impairment as a relevant feature of the condition. The primary aim of this study is to broaden the understanding of the cognitive profile in HSP, by examining cognitive impairments in a Greek cohort. A detailed neuropsychological assessment was conducted in 10 HSP patients and 30 healthy controls, including measures of executive function, memory, attention, processing speed, visual scanning, and social cognition. Our findings revealed widespread cognitive impairment, with prominent deficits in processing speed, attention, visual scanning, and social cognition, supporting reduced cognitive resilience in HSP. On a neuroanatomic level, the observed cognitive decline in HSP may indicate localized dysfunction within the frontal area of the brain among affected patients. We futher hypothesize that genetically distinct HSP subtypes converge on shared cellular disruptions that may compromise frontotemporal networks, thereby producing similar cognitive phenotypes.","PeriodicalId":49762,"journal":{"name":"Neurocase","volume":" ","pages":"51-63"},"PeriodicalIF":0.8,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147345541","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}

引用次数: 0

Delayed-onset parkinsonism after carbon monoxide poisoning: neuropsychological perspectives from a case report. 一氧化碳中毒后迟发性帕金森氏症：一例病例报告的神经心理学观点。

IF 0.8 4区医学

Neurocase Pub Date : 2026-02-01 Epub Date: 2025-12-29 DOI: 10.1080/13554794.2025.2610945

Michelle Ingiardi, Elisa Pini, Veronica Laini, Beatrice Feder, Eugenio Magni, Nazzareno Fagoni, Fulvio Pepe

引用次数: 0

Familial young-onset Parkinson's disease associated with SNCA gene duplication: a case series of three sisters from Turkey. 与SNCA基因重复相关的家族性早发帕金森病：土耳其三姐妹的病例系列

IF 0.8 4区医学

Neurocase Pub Date : 2026-02-01 Epub Date: 2026-02-25 DOI: 10.1080/13554794.2026.2620678

Pervin Işeri, Enes Demiryurek

{"title":"Familial young-onset Parkinson's disease associated with SNCA gene duplication: a case series of three sisters from Turkey.","authors":"Pervin Işeri, Enes Demiryurek","doi":"10.1080/13554794.2026.2620678","DOIUrl":"10.1080/13554794.2026.2620678","url":null,"abstract":"SNCA gene duplications are a rare cause of autosomal dominant Parkinson's disease (PD), linked to early onset and cognitive or behavioral symptoms. Data from Turkey remain limited. To describe the clinical, cognitive, behavioral, and genetic features of three Turkish sisters with familial PD due to SNCA duplication. This retrospective case series includes three sisters with PD. Clinical history, neurological examinations, Unified Parkinson's Disease Rating Scale (UPDRS-III) scores, treatment history, and neuropsychological findings were recorded. Genetic testing was conducted using whole exome sequencing. One sister underwent subthalamic nucleus deep brain stimulation (STN-DBS), and outcomes were followed over time. All patients presented with early-onset PD and classic motor symptoms, including bradykinesia and rigidity. Non-motor features such as REM sleep behavior disorder, orthostatic hypotension, urinary incontinence, and hallucinations were common. Two developed impulse control disorders, including hypersexuality and compulsive behaviors. Cognitive decline occurred in two, with MoCA scores of 24 and 22, and neuropsychological testing revealed frontal and temporolimbic dysfunction. The sister treated with DBS showed initial improvement but later motor and cognitive progression. This first detailed Turkish familial series highlights the broad symptom spectrum of SNCA duplication PD and underscores the need for genetic and neuropsychiatric assessment in familial cases.","PeriodicalId":49762,"journal":{"name":"Neurocase","volume":" ","pages":"40-50"},"PeriodicalIF":0.8,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147286038","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}

引用次数: 0

Mixed primary progressive aphasia and alcohol use disorder: a case of detailed clinical phenotyping outperforming molecular imaging. 混合性原发性进行性失语和酒精使用障碍：1例详细临床表型优于分子影像学。

IF 0.8 4区医学

Neurocase Pub Date : 2026-02-01 Epub Date: 2026-02-18 DOI: 10.1080/13554794.2026.2623906

Obiora Okoye, Cristiano Schaffer Aguzzoli, Petronilla Battista, Claudia Ramos, Karen Meenan, Maison Abu Raya, Buddhika Ratnasiri, Julio C Rojas, Jessica de Leon, Bruce Miller, Maria Luisa Gorno-Tempini, Renaud La Joie, Salvatore Spina

{"title":"Mixed primary progressive aphasia and alcohol use disorder: a case of detailed clinical phenotyping outperforming molecular imaging.","authors":"Obiora Okoye, Cristiano Schaffer Aguzzoli, Petronilla Battista, Claudia Ramos, Karen Meenan, Maison Abu Raya, Buddhika Ratnasiri, Julio C Rojas, Jessica de Leon, Bruce Miller, Maria Luisa Gorno-Tempini, Renaud La Joie, Salvatore Spina","doi":"10.1080/13554794.2026.2623906","DOIUrl":"10.1080/13554794.2026.2623906","url":null,"abstract":"Primary progressive aphasia (PPA) refers to a group of clinically and pathologically heterogeneous syndromes characterized by progressive and relatively selective impairment in speech and language as the main cognitive domain in the early disease stage. The main clinical variants of PPA based on current diagnostic criteria include logopenic variant PPA (lvPPA), nonfluent variant PPA (nfvPPA), and semantic variant PPA (svPPA). Identification of speech/language and non-language abilities and in vivo biomarkers (such as neuroimaging, genetic, and biofluid studies) facilitates the correct classification of the main variants. PPA variants clinical presentation may overlap leading to a diagnosis of mixed or unclassified PPA. We report the case of a trilingual patient with a 10-year history of word-finding difficulties initially attributed to chronic alcohol abuse. Her clinical presentation was evocative of lvPPA with features of svPPA, while her neuropsychological testing and MRI data were suggestive of a diagnosis of svPPA. While β-amyloid PET brain imaging was negative, postmortem immunohistochemical analysis of the brain showed unequivocal evidence of Alzheimer's disease. We describe this case of complex PPA for which clinical data outperformed imaging biomarkers in predicting the underlying neuropathology and discuss chronic alcohol abuse as a potential risk factor for neurodegeneration.","PeriodicalId":49762,"journal":{"name":"Neurocase","volume":" ","pages":"29-39"},"PeriodicalIF":0.8,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146221102","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}

引用次数: 0