NeurocasePub Date : 2026-04-01Epub Date: 2026-05-05DOI: 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":"10.1080/13554794.2026.2666421","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":49762,"journal":{"name":"Neurocase","volume":" ","pages":"80-97"},"PeriodicalIF":0.5,"publicationDate":"2026-04-01","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}
NeurocasePub Date : 2026-02-01Epub Date: 2026-02-04DOI: 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
{"title":"A novel mutation in colony-stimulating factor 1 receptor (CSF1R) causing CSF1R-related disorder (CSF1R-RD).","authors":"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","doi":"10.1080/13554794.2026.2613957","DOIUrl":"10.1080/13554794.2026.2613957","url":null,"abstract":"<p><p>CSF1R-related disorder (CSF1R-RD) is a rare neurodegenerative disorder linked to mutations in the colony-stimulating factor 1 receptor (<i>CSF1R</i>) gene. Over 200 mutations and diverse clinicoradiographic phenotypes have been described thus far. This case series presents three patients with two <i>CSF1R</i> mutations (I827N and S840C) of which the S840C mutation is novel. We detail their clinical presentations, diagnostic evaluations, and the autopsy findings for one case associated with the I827N mutation, offering new insights into the pathology of this disease.</p>","PeriodicalId":49762,"journal":{"name":"Neurocase","volume":" ","pages":"13-21"},"PeriodicalIF":0.5,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146120761","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}
NeurocasePub Date : 2026-02-01Epub Date: 2026-03-02DOI: 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":"<p><p>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.</p>","PeriodicalId":49762,"journal":{"name":"Neurocase","volume":" ","pages":"51-63"},"PeriodicalIF":0.5,"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}
{"title":"Delayed-onset parkinsonism after carbon monoxide poisoning: neuropsychological perspectives from a case report.","authors":"Michelle Ingiardi, Elisa Pini, Veronica Laini, Beatrice Feder, Eugenio Magni, Nazzareno Fagoni, Fulvio Pepe","doi":"10.1080/13554794.2025.2610945","DOIUrl":"10.1080/13554794.2025.2610945","url":null,"abstract":"<p><p>This case report presents the clinical evolution of a patient who developed delayed-onset parkinsonism and cognitive deficits following carbon monoxide poisoning (COP). After a symptom-free interval of approximately one month, the patient exhibited progressive neurological and cognitive impairments that significantly interfered with daily and occupational functioning. A combined therapeutic approach was implemented, involving pharmacological treatment, cycles of hyperbaric oxygen therapy (HBOT) and a tailored neuropsychological rehabilitation program. Longitudinal assessments documented progressive improvements, particularly in sustained attention, memory, and executive functioning, although residual difficulties persisted. This case highlights the relevance of individualized neuropsychological interventions in conjunction with medical treatment in facilitating functional recovery in patients with delayed neurological sequelae after COP.</p>","PeriodicalId":49762,"journal":{"name":"Neurocase","volume":" ","pages":"3-12"},"PeriodicalIF":0.8,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145851365","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}
NeurocasePub Date : 2026-02-01Epub Date: 2026-02-25DOI: 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":"<p><p>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.</p>","PeriodicalId":49762,"journal":{"name":"Neurocase","volume":" ","pages":"40-50"},"PeriodicalIF":0.5,"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}
NeurocasePub Date : 2026-02-01Epub Date: 2026-02-18DOI: 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":"<p><p>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 <i>in vivo</i> 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.</p>","PeriodicalId":49762,"journal":{"name":"Neurocase","volume":" ","pages":"29-39"},"PeriodicalIF":0.5,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13180464/pdf/","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":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Visual form agnosia of line drawings and alexia and agraphia of Kanji after right fusiform gyrus and occipitotemporal lobe infarction.","authors":"Yoshiko Kurosaki, Masakuni Nomura, Ryusaku Hashimoto","doi":"10.1080/13554794.2025.2587128","DOIUrl":"10.1080/13554794.2025.2587128","url":null,"abstract":"<p><p>A 69-year-old Japanese man presented with prosopagnosia, visual form agnosia for line drawings of objects, as well as alexia and agraphia for Kanji after infarction in the right fusiform gyrus and occipitotemporal lobe. In contrast, the verbalization of real objects and line drawings of actions was good. Visual recognition disorders that affect the identification of faces, line drawings, and Kanji suggest impaired processing related to multielement integration. Real objects and line drawings of actions, which are easy to process as visual units and tend to evoke kinesthetic images, were less affected after damage in the right occipital-inferior temporal pathway, suggesting that cognitive processing is possible via the dorsal pathway.</p>","PeriodicalId":49762,"journal":{"name":"Neurocase","volume":" ","pages":"22-28"},"PeriodicalIF":0.8,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145589882","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}
NeurocasePub Date : 2025-12-01Epub Date: 2025-11-05DOI: 10.1080/13554794.2025.2585052
Özlem Totuk, Çiğdem Akalan, Serkan Demir
{"title":"Management of MOGAD in an immunosuppressed HIV-positive patient: the first case presenting with alexia without agraphia.","authors":"Özlem Totuk, Çiğdem Akalan, Serkan Demir","doi":"10.1080/13554794.2025.2585052","DOIUrl":"10.1080/13554794.2025.2585052","url":null,"abstract":"<p><p>Myelin oligodendrocyte glycoprotein antibody-associated disease (MOG AD) is a rare autoimmune demyelinating condition typically presenting with optic neuritis, transverse myelitis, or encephalitis. Its occurrence in immunocompromised individuals, particularly those with human immunodeficiency virus (HIV), is rare and presents unique diagnostic and therapeutic challenges. We report the case of a 70-year-old HIV-positive man who developed alexia without agraphia following treatment for opportunistic infections, including <i>Pneumocystis jirovecii</i> pneumonia and cytomegalovirus. Brain MRI revealed a non-enhancing hyperintense lesion in the medial left occipital lobe extending into the splenium of the corpus callosum. MOG-IgG was positive at a titer of 1:30, while aquaporin-4 antibodies and paraneoplastic panels were negative. Neuropsychological assessment confirmed selective impairment in visual word recognition with preserved writing ability, consistent with alexia without agraphia. The patient was treated with intravenous immunoglobulin (IVIG) without corticosteroids due to immunosuppressive concerns and demonstrated approximately 40% improvement in visual word recognition accuracy. At six months follow-up, no relapse was observed, and reading ability remained stable. This case represents the first reported instance of MOGAD presenting with alexia without agraphia in an HIV-positive individual, underscoring the importance of considering autoimmune demyelination in immunosuppressed patients with focal neurological deficits.</p>","PeriodicalId":49762,"journal":{"name":"Neurocase","volume":" ","pages":"254-259"},"PeriodicalIF":0.8,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145446457","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}
NeurocasePub Date : 2025-12-01Epub Date: 2025-10-16DOI: 10.1080/13554794.2025.2566151
Hajar Alammar, Mamadou Diallo, Daniel A Llano
{"title":"Multiple ischemic strokes in a patient treated with Lecanemab: a case report.","authors":"Hajar Alammar, Mamadou Diallo, Daniel A Llano","doi":"10.1080/13554794.2025.2566151","DOIUrl":"10.1080/13554794.2025.2566151","url":null,"abstract":"<p><p>Amyloid-lowering therapy via administration of monoclonal antibodies against amyloid beta has been previously associated with the formation of cerebral edema and/or microhemorrhage. These changes are often picked up on MRI and referred to as amyloid-related imaging abnormalities, or ARIA. Cerebral ischemia has not been systematically reported in clinical trials involving amyloid-lowering therapy but has been reported in case reports. Here we describe an additional case of a patient with Alzheimer's Disease treated with the amyloid-lowering drug Lecanemab who developed both ARIA-H and ARIA-E, as well as multiple asymptomatic ischemic infarctions. Extensive workup did not reveal another clear cause for infarction. These infarcts, in conjunction with previous reports of ischemic infarction in the setting of anti-amyloid therapy, suggest that amyloid-lowering therapy may predispose individuals to both hemorrhagic and ischemic infarction. This result is discussed in the context of microvascular pathology known to occur in the setting of Alzheimer's Disease.</p>","PeriodicalId":49762,"journal":{"name":"Neurocase","volume":" ","pages":"295-300"},"PeriodicalIF":0.8,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145309764","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}