Neurocase最新文献_第5页

rTMS-based neuromodulation for treatment of postoperative aphasia after brain tumor resection: a case report. 基于rtms的神经调节治疗脑肿瘤切除术后失语1例。

IF 0.8 4区医学

Neurocase Pub Date : 2025-10-01 Epub Date: 2025-08-30 DOI: 10.1080/13554794.2025.2552671

Mitra L Neymeyer, Lena Rybka, Nikki Hoekzema, Heike Schneider, Melina Engelhardt, Rosario Tomasello, Peter Vajkoczy, Adrià Rofes, Thomas Picht, Tizian Rosenstock

{"title":"rTMS-based neuromodulation for treatment of postoperative aphasia after brain tumor resection: a case report.","authors":"Mitra L Neymeyer, Lena Rybka, Nikki Hoekzema, Heike Schneider, Melina Engelhardt, Rosario Tomasello, Peter Vajkoczy, Adrià Rofes, Thomas Picht, Tizian Rosenstock","doi":"10.1080/13554794.2025.2552671","DOIUrl":"10.1080/13554794.2025.2552671","url":null,"abstract":"Postoperative aphasia is a significant complication following brain tumor resection, affecting both quality of life and prognosis. Currently, speech language therapy (SLT) is the primary approach for treating aphasia, with no alternative rehabilitation options available. However, rTMS has shown promise intreating stroke-related language impairments. In this case report, we applied bilateral rTMS to address aphasia following brain tumor resection. A 36-year-old man with a known diagnosis of an oligodendroglioma (WHO3°) at the temporo-parieto-occipital junction presented with initial mild aphasia. Preoperative diagnostics revealed language-relevant areas in the supramarginal gyrus and infiltration of the AF, ILF and IFOF, leading to the decision to perform an awake craniotomy fortumor resection. Following complete resection, ischemia medial to the resection cavity was observed, resulting in a worsening of aphasia (AAT scorepostop196/440). Over 7 days, continuous bilateral rTMS combined with SLT was administered without any severe side effects. The patient's aphasia significantly improved post-treatment (AAT scoreDischarge291/440; AAT score1 Month343/440; AAT score3 Months 386/440). Given the encouraging results, a potential beneficial effect of the additional rTMS therapy may be suggested. However, larger cohorts and randomized controlled trials are necessary to confirm these preliminary results.","PeriodicalId":49762,"journal":{"name":"Neurocase","volume":" ","pages":"193-201"},"PeriodicalIF":0.8,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144976583","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

Hummingbird sign in a patient with DNMT1-related disorder. 一名dnmt1相关疾病患者出现蜂鸟征。

IF 0.8 4区医学

Neurocase Pub Date : 2025-10-01 Epub Date: 2025-09-12 DOI: 10.1080/13554794.2025.2560858

Mitsuyoshi Tamura, Atsuhiko Sugiyama, Shigeki Hirano, Yujiro Higuchi, Hiroshi Takashima, Masahiro Mori

引用次数: 0

IF 0.8 4区医学

Neurocase Pub Date : 2025-08-01 Epub Date: 2025-01-15 DOI: 10.1080/13554794.2025.2451997

Wei-Liang Liu, Fang Li

{"title":"VPS13D-related disorders: a severe case, review, and genotype-phenotype correlation.","authors":"Wei-Liang Liu, Fang Li","doi":"10.1080/13554794.2025.2451997","DOIUrl":"10.1080/13554794.2025.2451997","url":null,"abstract":"Background: VPS13D-related disorders are autosomal recessive genetic disorders characterized by movement disorders primarily including ataxia and spasticity, mainly accompanying developmental delay, seizures, and neuroimaging abnormalities. VPS13D-related spectrum disorder (VSD) may better reflect the characteristics of the disease. So far, the relationship of VPS13D genotype and phenotype of VSD has not been established.Methods: We analyzed clinical data and collected DNA samples from a severe patient and his healthy parents. Whole exome sequencing was performed by next-generation sequencing. We presented a review of all cases with VSD to establish genotype-phenotype correlation.Results: The patient had compound heterozygous mutations (c.9785T>C, p.L3262P; c.8687C>T, p.T2896M) in VPS13D gene, maternally and paternally inherited, respectively. The p.L3262P is a novel mutation. The individual presented with ataxia, dystonia, developmental delay, epilepsy and neuroimaging abnormalities, including bilateral caudate and putamen, cerebellum, and right temporal lobe, which are the first detailed imaging study reported in VSD to date. We first report that the patient has achieved significant improvement through active treatment. We first summarize genotype-phenotype correlation of VSD, highlighting that the severity of the phenotype is mainly due to the mutations affecting important domains of VPS13D protein or special severe missense mutations.Conclusions: Neuroimaging analysis is helpful to the etiology study of VSD. Active treatment of VSD is still meaningful. Important VPS13D regions correlated with severe phenotype need to be further studied.","PeriodicalId":49762,"journal":{"name":"Neurocase","volume":" ","pages":"133-137"},"PeriodicalIF":0.8,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143014878","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

VCP p.Arg191Gln mutation in a patient with semantic dementia: a case report. 语义性痴呆患者VCP p.Arg191Gln突变1例

IF 0.8 4区医学

Neurocase Pub Date : 2025-08-01 Epub Date: 2025-07-22 DOI: 10.1080/13554794.2025.2537955

Ryota Kobayashi, Hiroya Naruse, Akihito Suzuki, Tatsushi Toda, Shinobu Kawakatsu

{"title":"VCP p.Arg191Gln mutation in a patient with semantic dementia: a case report.","authors":"Ryota Kobayashi, Hiroya Naruse, Akihito Suzuki, Tatsushi Toda, Shinobu Kawakatsu","doi":"10.1080/13554794.2025.2537955","DOIUrl":"10.1080/13554794.2025.2537955","url":null,"abstract":"Variants in VCP (encoding valosin-containing protein) lead to inclusion body myopathy, which is typically associated with Paget's disease of the bones and frontotemporal dementia (FTD). When symptoms of frontotemporal lobar degeneration (FTLD) develop in patients with pathogenic VCP variants, the symptoms mainly present as behavioral-variant (bv) FTD and rarely as semantic dementia (SD). Various pathogenic VCP variants have been reported to cause bvFTD, whereas the only variant previously linked to SD is VCP p.Arg155Cys. Here, we report the case of a female Japanese patient with SD carrying the pathogenic VCP variant p.Arg191Gln. The patient developed naming difficulties, word-finding difficulties, stereotypical behavior, decreased spontaneity, and executive dysfunction at 55 years old and was diagnosed with SD at our hospital at 56 years old. At 59 years, there were no clinical findings suggestive of myopathy, pyramidal signs, or bone involvement. Genetic analyses, including whole-exome and Sanger sequencing, identified the VCP p.Arg191Gln variant in the patient with isolated SD. She required wheelchair assistance for 62 years and was mute. She later died from complications of malnutrition due to feeding difficulties. This case suggests that VCP variants may result in not only bvFTD but also SD, indicating a broader spectrum of FTLD-related phenotypes linked to pathogenic VCP variants.","PeriodicalId":49762,"journal":{"name":"Neurocase","volume":" ","pages":"167-172"},"PeriodicalIF":0.8,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144692209","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

Dentatorubral pallidoluysian atrophy with cognitive impairment, epilepsy, movement disorders, and psychosis - a case. 伴认知障碍、癫痫、运动障碍和精神病的齿状体白斑萎缩1例。

IF 0.8 4区医学

Neurocase Pub Date : 2025-08-01 Epub Date: 2025-01-01 DOI: 10.1080/13554794.2024.2447116

Byong-Kyu Kim, Jin-Mo Park

引用次数: 0

Fahr's disease presenting with psychotic symptoms at onset in an adolescent: a case report. 青少年Fahr病发病时表现为精神症状：1例报告

IF 0.8 4区医学

Neurocase Pub Date : 2025-08-01 Epub Date: 2025-06-23 DOI: 10.1080/13554794.2025.2522642

JianFeng Liu, Jie Jia, TingTing Hao, Jing Ding

{"title":"Fahr's disease presenting with psychotic symptoms at onset in an adolescent: a case report.","authors":"JianFeng Liu, Jie Jia, TingTing Hao, Jing Ding","doi":"10.1080/13554794.2025.2522642","DOIUrl":"10.1080/13554794.2025.2522642","url":null,"abstract":"Fahr's disease (FD) is a rare neurological disorder that causes abnormal, symmetrical, and bilateral calcification of the basal ganglia and other brain regions. Psychiatric symptoms are one of the many manifestations that guide FD diagnosis, with most usually occurring by ages 30-60 years. Herein, we report an incidental finding of bilateral basal ganglia calcification in a 14-year-old male teenager presenting psychotic characteristics, including schizophreniform and manic-like symptoms, who was initially investigated for mycoplasma infection. No similar study has been reported so far in the literature. Case report and literature review. Computed tomography (CT) revealed a calcification deposit in bilateral basal ganglia, thalamus, frontal cortex, and semioval center, magnetic resonance imaging detected a T1-weighted image and fluid-attenuated inversion recovery hyperintense signal abnormalities in the bilateral basal ganglia and thalami. Furthermore, the laboratory tests revealed no obvious abnormality except for hypocalcemia and low vitamin D levels with an elevated uric acid level. The gene test results confirmed the diagnosis of familial FD, which was caused by a mutation in the SLC20A2 gene (NM_001257180.2:c.551delC/p.Pro184Glnfs *8). The patient was prescribed oral medication, including olanzapine, sodium valproate extended-release tablets, lorazepam, and vitamin D drops. Additionally, individualized administration with therapeutic drug monitoring was recommended for the patient to enable dose adjustments. The patient experienced no new psychotic symptoms within the 6-month follow-up after discharge. Bilateral basal ganglia calcification may be a contributing factor to the sudden onset of psychiatric symptoms in children and adolescents.","PeriodicalId":49762,"journal":{"name":"Neurocase","volume":" ","pages":"181-187"},"PeriodicalIF":0.8,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144477578","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

Giggle incontinence and facial emotion recognition deficits: a rare condition with a new insight into management. 咯咯笑失禁和面部情绪识别缺陷：一个罕见的条件与新的见解管理。

IF 0.8 4区医学

Neurocase Pub Date : 2025-08-01 Epub Date: 2025-04-07 DOI: 10.1080/13554794.2025.2489927

Yiyuan Zhang, Fang Lu, Ruitao Mao, Lihua Jin

{"title":"Giggle incontinence and facial emotion recognition deficits: a rare condition with a new insight into management.","authors":"Yiyuan Zhang, Fang Lu, Ruitao Mao, Lihua Jin","doi":"10.1080/13554794.2025.2489927","DOIUrl":"10.1080/13554794.2025.2489927","url":null,"abstract":"Giggling incontinence(GI), although uncommon, can have a profound effect on a patient's quality of life, especially in adolescent females. A case study involving a 4-year-old girl who developed urinary incontinence symptoms following a traumatic brain injury from a motor vehicle accident and subsequent loss of her parents highlights the challenges in managing this condition after 4 months. Despite conventional treatments such as pelvic floor exercises and cognitive therapy, the patient's symptoms persisted. Unexpectedly, during facial expression recognition training, the guardian reported a notable improvement in the patient's symptoms. Following 45 days of specialized training in facial expression recognition, the patient experienced a complete resolution of GI symptoms. The initial objective of the intervention was to mitigate impairments in facial expression recognition, a social deficit that can have deleterious effects on development. However, the observed correlation between GI symptoms and regulation of brain areas was evident, compounded by the patient's concomitant frontoparietal brain injury and parental loss, which may have contributed to both GI symptoms and facial expression recognition impairments. This case report provides new insights into the intervention of GI symptoms and common emotional expression recognition disorders in the mental health field.","PeriodicalId":49762,"journal":{"name":"Neurocase","volume":" ","pages":"138-142"},"PeriodicalIF":0.8,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143804530","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

aFTLD-U presenting with primary progressive aphasia suggestive of non-fluent type with apraxia of speech. aFTLD-U表现为原发性进行性失语，提示非流利型伴言语失用。

IF 0.8 4区医学

Neurocase Pub Date : 2025-08-01 Epub Date: 2025-02-11 DOI: 10.1080/13554794.2025.2464549

Riddhi Patira, Ameneh Zare Shahabadi, Oscar Lopez, Julia Kofler

引用次数: 0

Disconnection between parietal and temporal areas without simultanagnosia: a case study of prosopagnosia. 无同时失认症的顶叶和颞叶区域之间的断开：一个面孔失认症的案例研究。

IF 0.8 4区医学

Neurocase Pub Date : 2025-08-01 Epub Date: 2025-04-12 DOI: 10.1080/13554794.2025.2489929

Manuel Alejandro Mejía, Mitchell Valdés-Sosa, Beatrice de Gelder, Maria Antonieta Bobes

{"title":"Disconnection between parietal and temporal areas without simultanagnosia: a case study of prosopagnosia.","authors":"Manuel Alejandro Mejía, Mitchell Valdés-Sosa, Beatrice de Gelder, Maria Antonieta Bobes","doi":"10.1080/13554794.2025.2489929","DOIUrl":"10.1080/13554794.2025.2489929","url":null,"abstract":"This study presents a neuropsychological evaluation of a unique case of prosopagnosia (patient EP) with atypical lesion patterns, characterized by intact face-selective nodes but significant damage to the Vertical Occipital Fasciculus (VOF). Given the presumed interruption of ventral-parietal connectivity, we focused on assessing the potential presence of simultanagnosia and its potential relationship to his face recognition deficits. Our neuropsychological battery included tests of global and local processing, scene perception, and face recognition. Results revealed intact global processing abilities and no evidence of simultanagnosia, despite the patient's prosopagnosia. These findings suggest that EP's face recognition impairment is likely attributable to disrupted connectivity within the face processing network rather than a general deficit in global/holistic processing. This case highlights the importance of comprehensive neuropsychological assessments in atypical presentations of prosopagnosia and contributes to our understanding of the complex relationship between white matter integrity and face recognition abilities.","PeriodicalId":49762,"journal":{"name":"Neurocase","volume":" ","pages":"124-132"},"PeriodicalIF":0.8,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144065145","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

Electroconvulsive therapy ameliorates treatment-resistant depression in patient with Lewy body dementia. 电休克疗法改善路易体痴呆患者的难治性抑郁症。

IF 0.8 4区医学

Neurocase Pub Date : 2025-08-01 Epub Date: 2025-04-12 DOI: 10.1080/13554794.2025.2490785

Yavuz Sultan Selim Akgul, Murat Gultekin, Saliha Demirel Ozsoy

引用次数: 0