IF 0.6 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":0.6,"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

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 0.6 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":0.6,"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 0.6 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 0.6 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":0.6,"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

Inner dialogue dysfunction and the abusive comments of the dominant hemisphere. 内部对话功能障碍和主导半球的辱骂性评论。

IF 0.6 4区医学

Neurocase Pub Date : 2025-08-01 Epub Date: 2024-12-19 DOI: 10.1080/13554794.2024.2442010

Luis Fornazzari, Mila Valcic, Matthew Juhasz, Corinne E Fischer

引用次数: 0

The digitalization of psychopathology: 'TV sign' and 'Smartphone sign' as red flags for dementia. 精神病理学的数字化：“电视信号”和“智能手机信号”是痴呆症的危险信号。

IF 0.6 4区医学

Neurocase Pub Date : 2025-08-01 Epub Date: 2025-02-21 DOI: 10.1080/13554794.2025.2467925

Porimita Chutia, Shailendra Mohan Tripathi, Ashwin Jv

引用次数: 0

Mills syndrome as a rare and significant motor neuron disease: a case report. 米尔斯综合征是一种罕见而重要的运动神经元疾病：1例报告。

IF 0.6 4区医学

Neurocase Pub Date : 2025-08-01 Epub Date: 2025-04-11 DOI: 10.1080/13554794.2025.2489930

Ozlem Onder, Sahin Isik

引用次数: 0

The Relationship between Emotional Expression, Difficulty in Emotion Regulation and Anhedonia in Parkinson's Disease. 帕金森病患者情绪表达、情绪调节困难与快感缺乏的关系

IF 0.6 4区医学

Neurocase Pub Date : 2025-08-01 Epub Date: 2025-02-20 DOI: 10.1080/13554794.2025.2467910

Fatma Gül Helvaci Çelik, Yunus Emre Aktaş, Seda Kiraz, Demet Şeker, Çiçek Hocaoğlu

{"title":"The Relationship between Emotional Expression, Difficulty in Emotion Regulation and Anhedonia in Parkinson's Disease.","authors":"Fatma Gül Helvaci Çelik, Yunus Emre Aktaş, Seda Kiraz, Demet Şeker, Çiçek Hocaoğlu","doi":"10.1080/13554794.2025.2467910","DOIUrl":"10.1080/13554794.2025.2467910","url":null,"abstract":"Parkinson's disease (PD), a range of neuropsychiatric symptoms, including anhedonia, depression, emotional control, and cognitive deficits, may manifest. This study aims to investigate the impact of anhedonia, emotional regulation, and emotional expression on PD. The research included 68 PD patients and 60 healthy controls. Both groups were assessed using the Hospital Anxiety and Depression Scale (HADS), Emotional Expression Scale (EES), the Short Form of the Difficulties in Emotion Regulation Scale (DERS), and the Clinician-Administered Snaith-Hamilton Pleasure Scale (SHAPS), all administered by a psychiatrist. The PD group was evaluated by a neurology specialist using the Unified Parkinson's Disease Rating Scale (UPDRS). Results showed that the PD group scored significantly higher on the HADS (p < 0.01), DERS (p < 0.01), and SHAPS (p < 0.01), while their EES scores were significantly lower (p < 0.01) compared to the control group. Further analysis indicated that a one-unit increase in anhedonia scores corresponded to a 3.125 unit rise in non-motor symptom scores and a 5.034 unit rise in motor symptom scores. The findings suggest that anhedonia is a strong predictor of both motor and non-motor symptoms in PD. The data indicate that the link between anhedonia and PD exists independently of depression and anxiety, highlighting the necessity of addressing anhedonia as a distinct symptom in PD.","PeriodicalId":49762,"journal":{"name":"Neurocase","volume":" ","pages":"112-118"},"PeriodicalIF":0.6,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143469794","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 0.6 4区医学

Neurocase Pub 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":"https://doi.org/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":"1-6"},"PeriodicalIF":0.6,"publicationDate":"2025-07-22","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

Amusia representing impairment of absolute pitch perception due to damage to the middle longitudinal fasciculus: a case report. 失音症表现绝对音高知觉因中纵束损伤而受损：1例报告。

IF 0.6 4区医学

Neurocase Pub Date : 2025-07-22 DOI: 10.1080/13554794.2025.2531804

Masayuki Satoh

{"title":"Amusia representing impairment of absolute pitch perception due to damage to the middle longitudinal fasciculus: a case report.","authors":"Masayuki Satoh","doi":"10.1080/13554794.2025.2531804","DOIUrl":"https://doi.org/10.1080/13554794.2025.2531804","url":null,"abstract":"Absolute pitch (AP) is the ability to identify the pitch of isolated tones without reference to an external pitch. A 21-year-old semi-professional musician with a previous ability for AP developed a left-hemispheric cerebral hemorrhage due to an arteriovenous malformation (AVM). One month after the hemorrhage, she underwent surgery to treat the AVM, resulting in the resolution of her aphasia and right upper limb clumsiness. However, her AP ability was lost. Before the hemorrhage, she could dictate complex music that she listened to, but afterward, she could no longer identify even a single tone. Neuropsychological assessments revealed a decreased retention span for auditory information, slight impairment of environmental sound and speech processing, and difficulty in understanding the auditory presentation of numbers with more than four digits. Neuromusicological assessments with an established battery of tests revealed impairments of chord and timbre perception, alongside the loss of AP ability. Brain computed tomography conducted 9 months after the hemorrhage revealed low-density areas in the middle longitudinal fasciculus, a region associated with language and auditory processing, including AP perception. To our knowledge, this is the first reported case of a patient with AP loss because of a focal brain lesion.","PeriodicalId":49762,"journal":{"name":"Neurocase","volume":" ","pages":"1-12"},"PeriodicalIF":0.6,"publicationDate":"2025-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144692210","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

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