Neurocase最新文献_第2页

Sex-dependent clinical divergence in adult-onset CLN6-Batten disease: a case study of a Chinese brother-sister pair. 成人发病cln6 -巴顿病的性别依赖临床差异：一对中国兄妹的案例研究

IF 0.5 4区医学

Neurocase Pub Date : 2026-08-01 Epub Date: 2026-07-29 DOI: 10.1080/13554794.2026.2704842

Shu-Ya Liu, Shih-Jen Tsai, Mu-N Liu

{"title":"Sex-dependent clinical divergence in adult-onset CLN6-Batten disease: a case study of a Chinese brother-sister pair.","authors":"Shu-Ya Liu, Shih-Jen Tsai, Mu-N Liu","doi":"10.1080/13554794.2026.2704842","DOIUrl":"10.1080/13554794.2026.2704842","url":null,"abstract":"Neuronal ceroid lipofuscinoses (NCLs) are rare, genetically heterogeneous neurodegenerative disorders involving progressive cognitive, motor, and psychiatric decline. Adult-onset CLN6 disease (Kufs type) is extremely uncommon, typically emerging after age 30 with seizures, ataxia, and gradual functional deterioration. We report a Chinese brother - sister pair carrying identical compound heterozygous CLN6 mutations (c.307C >T [p.Arg103Trp] and c.425A >G [p.Tyr142Cys]) who exhibited marked intrafamilial phenotypic divergence. The younger sister developed generalized seizures at age 30, followed by focal seizures, gait instability, and progressive ataxia, but remained partially mobile and free of psychiatric symptoms for more than 10 years. By contrast, her older brother developed seizures at age 35 and prominent psychosis at age 42, including persecutory delusions and hallucinations, followed by rapid neurological deterioration and complete dependence within 2 years. This sibship illustrates substantial clinical heterogeneity despite an identical CLN6 genotype. Rather than establishing a causal effect of sex, this report suggests that sex may modify disease expression in adult-onset CLN6 and that prominent psychiatric manifestations may signal a more aggressive clinical trajectory.","PeriodicalId":49762,"journal":{"name":"Neurocase","volume":" ","pages":"167-173"},"PeriodicalIF":0.5,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148609438","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 rare homozygous mutation in TYROBP resulting in early-onset dementia with bone cysts. 一种罕见的TYROBP纯合突变导致早发性痴呆伴骨囊肿。

IF 0.5 4区医学

Neurocase Pub Date : 2026-08-01 Epub Date: 2026-06-09 DOI: 10.1080/13554794.2026.2684661

Yinuo Li, Shaomei Sui, Xiaofeng Fu, Qi Wang, Lei Li, Yan He

{"title":"A rare homozygous mutation in TYROBP resulting in early-onset dementia with bone cysts.","authors":"Yinuo Li, Shaomei Sui, Xiaofeng Fu, Qi Wang, Lei Li, Yan He","doi":"10.1080/13554794.2026.2684661","DOIUrl":"10.1080/13554794.2026.2684661","url":null,"abstract":"Nasu-Hakola disease (NHD) is a rare autosomal recessive disorder characterized by progressive dementia and multiple bone cysts. The known pathogenic genes include TYRO protein tyrosine kinase binding protein (TYROBP) on chromosome 19q13.1 and triggering receptor expressed on myeloid cells 2 (TREM2) on chromosome 6p21.1. Until now, no case related to TYROBP gene mutation has been reported in the Chinese population. We report a 39-year-old Chinese Han patient who presented with early-onset dementia and cystic bone lesions. Brain magnetic resonance imaging showed extensive cerebral atrophy with ventricular enlargement and diffuse, symmetric white matter lesions. Whole-exome sequencing identified a nonsense mutation, c.214C > T (p.Arg72Ter), in the TYROBP gene. Minigene experiments suggested that this variant may partially affect TYROBP splicing, providing supplementary transcript-level evidence for NHD. This is the first genetically confirmed case of NHD associated with a homozygous TYROBP c.214C > T (p.Arg72Ter) variant in the Chinese population. Our findings expand the mutation spectrum of NHD and provide new reference evidence for its molecular diagnosis and genetic counseling.","PeriodicalId":49762,"journal":{"name":"Neurocase","volume":" ","pages":"123-130"},"PeriodicalIF":0.5,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148206610","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

Multi-case review of posterior cortical atrophy in a neuropsychology clinic. 神经心理学诊所后皮质萎缩的多例回顾。

IF 0.5 4区医学

Neurocase Pub Date : 2026-08-01 Epub Date: 2026-07-30 DOI: 10.1080/13554794.2026.2710636

Hannah E Dewhurst, Lindsey Jorda, Amaya Aranda, Bindu Chunduri, Oscar L Lopez, Riddhi Patira, Marissa A Gogniat

{"title":"Multi-case review of posterior cortical atrophy in a neuropsychology clinic.","authors":"Hannah E Dewhurst, Lindsey Jorda, Amaya Aranda, Bindu Chunduri, Oscar L Lopez, Riddhi Patira, Marissa A Gogniat","doi":"10.1080/13554794.2026.2710636","DOIUrl":"10.1080/13554794.2026.2710636","url":null,"abstract":"Posterior Cortical Atrophy (PCA) is a neurodegenerative syndrome defined by occipital atrophy that results in visuospatial deficits, often caused by Alzheimer's disease (AD) pathology. Patients with PCA are younger than typical AD patients and can present with anxiety. A rare and atypical variant of AD, the variable presentation of PCA has left it understudied, misdiagnosed, and with few in-depth examinations of cognitive profiles. This project reviews three patients referred for neuropsychological evaluation who were determined to have probable PCA. A comprehensive neuropsychological battery examined learning and memory, executive function, language, attention and processing speed, and visuospatial ability. Cases were examined based on cognitive complaints, daily functioning based on informant report, neuropsychological test performance, and neurodiagnostic work-up. Striking visuospatial deficits were observed in visuospatial construction tests (all patients scored < 1 percentile), and performance was impaired on most tests with visual components. Memory scores were impaired on some tests, but scores were slightly better on a contextualized verbal task compared to a word list. Patients had trouble functioning related to vision (e.g. object finding, reading) and tested positive for AD biomarkers. These cases highlight key aspects of the neuropsychological work-up for suspected PCA, including visuospatial deficits, AD biomarkers, and cognitive complaints.","PeriodicalId":49762,"journal":{"name":"Neurocase","volume":" ","pages":"141-151"},"PeriodicalIF":0.5,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148622269","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

The anatomy of concealed awareness: lessons from partial locked-in syndrome. 隐藏意识的解剖：来自部分闭锁综合征的教训。

IF 0.5 4区医学

Neurocase Pub Date : 2026-08-01 Epub Date: 2026-06-02 DOI: 10.1080/13554794.2026.2682880

Maheen Nisar

{"title":"The anatomy of concealed awareness: lessons from partial locked-in syndrome.","authors":"Maheen Nisar","doi":"10.1080/13554794.2026.2682880","DOIUrl":"10.1080/13554794.2026.2682880","url":null,"abstract":"Partial locked-in syndrome (PLIS) is a rare stroke presentation in which preserved consciousness is masked by severe motor impairment, potentially leading to misinterpretation as encephalopathy. We report a patient in her early seventies with vascular risk factors and a prior pontine infarct who presented with acute quadriplegia and mutism. Initial clinical impressions raised concern for altered mental status. However, subsequent neurological examination demonstrated preserved awareness, with consistent eye tracking and command following through head movements. Examination showed bifacial and bulbar weakness, severe dysarthria, and minimal right arm movement. MRI demonstrated new infarcts in the left cerebral peduncle, posterior limb of the internal capsule, thalamus, and temporal lobe, superimposed on a prior pontine lesion. This distributed but strategically located pattern of injury affected bilateral corticospinal pathways and explained the profound motor impairment despite preserved consciousness. This case highlights how PLIS may mimic encephalopathy in the acute care setting and underscores the importance of structured bedside assessment for detecting preserved awareness in mute or immobile patients. Early recognition has implications for airway management, stroke evaluation, communication strategies, and prognostic counseling.","PeriodicalId":49762,"journal":{"name":"Neurocase","volume":" ","pages":"138-140"},"PeriodicalIF":0.5,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148152029","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

Evaluating language lateralization after recurrent malignant glioma: a longitudinal functional MRI and voxel-based morphometry case study. 评估恶性胶质瘤复发后的语言偏侧化：纵向功能MRI和基于体素的形态测量案例研究。

IF 0.5 4区医学

Neurocase Pub Date : 2026-08-01 Epub Date: 2026-06-03 DOI: 10.1080/13554794.2026.2679559

Teresa Julio-Ramos, David Toloza-Ramirez, Barbara Cortes-Rivera, Raul Valenzuela-Magnini, Romina Zunino-Pesce, Leonardo Arraño-Carrasco, Francisco Mery-Muñoz, Carolina Mendez-Orellana

{"title":"Evaluating language lateralization after recurrent malignant glioma: a longitudinal functional MRI and voxel-based morphometry case study.","authors":"Teresa Julio-Ramos, David Toloza-Ramirez, Barbara Cortes-Rivera, Raul Valenzuela-Magnini, Romina Zunino-Pesce, Leonardo Arraño-Carrasco, Francisco Mery-Muñoz, Carolina Mendez-Orellana","doi":"10.1080/13554794.2026.2679559","DOIUrl":"10.1080/13554794.2026.2679559","url":null,"abstract":"Language lateralization (LL) is a key aspect for preoperative surgical planning in patients with brain tumors. Crossed cerebro-cerebellar (CCC) activation, derived from functional magnetic resonance imaging (fMRI), guides LL determination. Structural features, such as gray matter volume (GMV), may provide complementary information on structural asymmetries associated with LL. However, the literature suggests that LL may change after surgery, and less is known about its variation over repeated surgeries. This case study aims to characterize LL in a patient with a recurrent glioma using both functional and structural measures. The case is a 33-year-old woman who underwent three intraoperative awake speech mapping tumor resections. Conventional MRI and fMRI were acquired before each surgery: 2017 (T1), 2020 (T2), and 2023 (T3). CCC activation was used as a functional marker of LL, and GMV was used to examine structural asymmetries. Linguistic and cognitive functions were examined pre-and postoperatively. Although supratentorial activation patterns showed some variability, CCC activation consistently indicated left-hemisphere LL. Structural analyses revealed differential volumetric patterns between the ipsilateral and contralateral language regions. Combining functional and structural measures, such as CCC activation and GMV analysis, may provide complementary information for assessing LL in patients undergoing repeated surgeries.","PeriodicalId":49762,"journal":{"name":"Neurocase","volume":" ","pages":"112-122"},"PeriodicalIF":0.5,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148152064","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

Reduced diffusion associated with amyloid-related imaging abnormalities in three patients treated with donanemab. donanemab治疗的3例患者中与淀粉样蛋白相关的影像学异常相关的弥散减少。

IF 0.5 4区医学

Neurocase Pub Date : 2026-08-01 Epub Date: 2026-07-02 DOI: 10.1080/13554794.2026.2695021

Nicholas U Schwartz, Connor D Dietz, Zoe Lin, Gautam Tammewar, Nhat Bui, Renaud La Joie, Yingbing Wang, Anirudh Sreekrishnan, Dror Suhami, Lawren VandeVrede, Peter A Ljubenkov, Julio C Rojas

{"title":"Reduced diffusion associated with amyloid-related imaging abnormalities in three patients treated with donanemab.","authors":"Nicholas U Schwartz, Connor D Dietz, Zoe Lin, Gautam Tammewar, Nhat Bui, Renaud La Joie, Yingbing Wang, Anirudh Sreekrishnan, Dror Suhami, Lawren VandeVrede, Peter A Ljubenkov, Julio C Rojas","doi":"10.1080/13554794.2026.2695021","DOIUrl":"10.1080/13554794.2026.2695021","url":null,"abstract":"Amyloid-related imaging abnormalities (ARIA) with edema (ARIA-E) and with hemorrhage (ARIA-H) are common adverse effects of amyloid-targeting therapies (ATT), characterized on MRI by T2/fluid-attenuated inversion recovery (FLAIR) hyperintensities and susceptibility-sensitive hypointensities, respectively. ARIA resulting from ATT is not commonly associated with reduced diffusion or acute infarcts. In this case series, we describe three patients with mild cognitive impairment due to Alzheimer's disease (AD) - a 75-year-old woman, a 74-year-old woman, and an 80-year-old man (APOE ε3/ε3, ε4/ε4, and ε3/ε4, respectively) - who developed ARIA accompanied by transient foci of reduced diffusion within the first six months of donanemab treatment, without permanent T2/FLAIR correlates. The diffusion-restricting lesions may represent ischemic infarcts, although the lack of permanent T2/FLAIR correlate is atypical. Clinicians should be aware that reduced diffusion may accompany ARIA. The course can be highly dynamic, and both the clinical presentation and management implications may vary.","PeriodicalId":49762,"journal":{"name":"Neurocase","volume":" ","pages":"174-179"},"PeriodicalIF":0.5,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13431785/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148370543","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Bimanual asymmetric exercises reduce pathological mirror movements after stroke: a case report with disconnectome mapping. 双手不对称运动减少脑卒中后病理性镜像运动：一个病例报告与断开连接组映射。

IF 0.5 4区医学

Neurocase Pub Date : 2026-08-01 Epub Date: 2026-05-24 DOI: 10.1080/13554794.2026.2677706

Ken Ito, Shun Sawai, Hideki Nakano

{"title":"Bimanual asymmetric exercises reduce pathological mirror movements after stroke: a case report with disconnectome mapping.","authors":"Ken Ito, Shun Sawai, Hideki Nakano","doi":"10.1080/13554794.2026.2677706","DOIUrl":"10.1080/13554794.2026.2677706","url":null,"abstract":"Involuntary mirror movements (MMs) may occur in the nonparetic hand after stroke events, accompanying voluntary movements of the paretic hand. These can interfere with unimanual dexterity and bimanual coordination, potentially impacting the performance of activities of daily living (ADLs). However, neither the changes in such MMs over time nor effective interventions for them have been sufficiently established. We recently treated a patient with right putaminal hemorrhage following a stroke, who presented with difficulties performing bimanual tasks (e.g. typing and washing hair) because of prominent MMs in the nonparetic hand accompanying movements in the paretic hand, despite mild upper-limb motor paralysis and ADL independence. To facilitate voluntary paretic hand movement while targeting independent control of both hands, we implemented a bimanual asymmetric exercises (BAEs), wherein the patient performed different motor tasks with each hand concurrently. This reduced the patient's MMs while improving bimanual coordination. Even when paretic upper-limb impairment is mild, and patients can perform ADLs independently, evaluations and interventions should be conducted, while remaining mindful that MMs in the nonparetic hand can reduce overall upper-limb performance. BAEs may represent an effective approach for reducing MMs.","PeriodicalId":49762,"journal":{"name":"Neurocase","volume":" ","pages":"103-111"},"PeriodicalIF":0.5,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148018665","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 0.5 4区医学

Neurocase Pub Date : 2026-04-01 Epub 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":"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":"98-101"},"PeriodicalIF":0.5,"publicationDate":"2026-04-01","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 : 2026-04-01 Epub 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":"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":"76-79"},"PeriodicalIF":0.8,"publicationDate":"2026-04-01","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 0.5 4区医学

Neurocase Pub Date : 2026-04-01 Epub 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":"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":"65-75"},"PeriodicalIF":0.5,"publicationDate":"2026-04-01","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