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VPS13D-related disorders: a severe case, review, and genotype-phenotype correlation. vps13d相关疾病：一例重症病例、综述及基因型-表型相关性
IF 0.6 4区 医学
Neurocase Pub 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":"https://doi.org/10.1080/13554794.2025.2451997","url":null,"abstract":"<p><strong>Background: </strong><i>VPS13D</i>-related disorders are autosomal recessive genetic disorders characterized by movement disorders primarily including ataxia and spasticity, mainly accompanying developmental delay, seizures, and neuroimaging abnormalities. <i>VPS13D</i>-related spectrum disorder (VSD) may better reflect the characteristics of the disease. So far, the relationship of <i>VPS13D</i> genotype and phenotype of VSD has not been established.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>The patient had compound heterozygous mutations (c.9785T>C, p.L3262P; c.8687C>T, p.T2896M) in <i>VPS13D</i> 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.</p><p><strong>Conclusions: </strong>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.</p>","PeriodicalId":49762,"journal":{"name":"Neurocase","volume":" ","pages":"1-5"},"PeriodicalIF":0.6,"publicationDate":"2025-01-15","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
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 0.6 4区 医学
Neurocase Pub Date : 2025-01-01 DOI: 10.1080/13554794.2024.2447116
Byong-Kyu Kim, Jin-Mo Park
{"title":"Dentatorubral pallidoluysian atrophy with cognitive impairment, epilepsy, movement disorders, and psychosis - a case.","authors":"Byong-Kyu Kim, Jin-Mo Park","doi":"10.1080/13554794.2024.2447116","DOIUrl":"https://doi.org/10.1080/13554794.2024.2447116","url":null,"abstract":"<p><p>Dentatorubral-Pallidoluysian Atrophy (DRPLA) is a rare autosomal dominant neurodegenerative disorder caused by CAG repeat expansion in the ATN1 gene, characterized by diverse neurological and psychiatric symptoms. We report a 23-year-old patient with juvenile-onset seizures, cognitive decline, and ataxia, progressing to psychosis by age 31. Initial brain MRI showed minimal cerebellar atrophy, with prominent atrophy evident on follow-up imaging. Genetic testing confirmed DRPLA with expanded CAG repeats. Family history revealed anticipation, with varying presentations across generations. This case highlights DRPLA's complexity, diagnostic challenges due to symptom overlap, and the critical role of genetic testing in identifying this rare disorder.</p>","PeriodicalId":49762,"journal":{"name":"Neurocase","volume":" ","pages":"1-3"},"PeriodicalIF":0.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142916198","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 : 2024-12-19 DOI: 10.1080/13554794.2024.2442010
Luis Fornazzari, Mila Valcic, Matthew Juhasz, Corinne E Fischer
{"title":"Inner dialogue dysfunction and the abusive comments of the dominant hemisphere.","authors":"Luis Fornazzari, Mila Valcic, Matthew Juhasz, Corinne E Fischer","doi":"10.1080/13554794.2024.2442010","DOIUrl":"https://doi.org/10.1080/13554794.2024.2442010","url":null,"abstract":"<p><p>Inner dialogue and inner speech are normal systems of cerebral intrapersonal communication, crucial to self-awareness. Lesions affecting the cerebral network involved in these systems have been associated with the occurrence of Auditory Verbal Hallucinations (AVHs). These are regarde as a continuum phenomenon experienced by healthy, individuals, as well as those with psychiatric disorders. In this paper, two patients with left hemispheric lesions of different pathologies, vascular and tumor, respectively, who during their recovery of motor and sensory functions presented severe deregulation in their inner dialogue. In both cases, the damaged left dominant hemisphere adopted arrogant, demeaning, and abusive inner speech, while the right non-dominant side, which commands the rehabilitation of the lost functions, was subdued and quiet. This abusive unilateral inner dialogue was present until adequate recovery of independent functions was achieved for both patients.</p>","PeriodicalId":49762,"journal":{"name":"Neurocase","volume":" ","pages":"1-7"},"PeriodicalIF":0.6,"publicationDate":"2024-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142856363","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
Visuoperceptual rehabilitation with repetitive transcranial magnetic stimulation in chronic cortical blindness: a case report. 反复经颅磁刺激治疗慢性皮质性盲的视觉康复一例报告。
IF 0.6 4区 医学
Neurocase Pub Date : 2024-12-01 Epub Date: 2024-12-05 DOI: 10.1080/13554794.2024.2437195
Ozden Erkan Ogul, Suat Yılmaz, Ozge Arıca Duz, Fevzi Senturk, Lutfu Hanoglu
{"title":"Visuoperceptual rehabilitation with repetitive transcranial magnetic stimulation in chronic cortical blindness: a case report.","authors":"Ozden Erkan Ogul, Suat Yılmaz, Ozge Arıca Duz, Fevzi Senturk, Lutfu Hanoglu","doi":"10.1080/13554794.2024.2437195","DOIUrl":"10.1080/13554794.2024.2437195","url":null,"abstract":"<p><p>This study aims to reveal the effect of visuoperceptual rehabilitation combined with neuromodulation on visual impairment recovery in chronic cortical blindness. A 71-year-old patient with cortical blindness was assessed using perimetry, pattern electroretinogram (pERG), Canadian Occupational Performance Measurement (COPM), and Montreal Cognitive Assessment (MoCA) at baseline and after treatment. After 12 rTMS sessions and 50 visual perceptual rehabilitation sessions, perimetry, pERG, COPM, and MoCA significantly improved the visual field and daily functioning. Both COPM-MoCA scores exceeded clinical significance. The results indicate that combining vision therapy with rTMS may improve vision field, daily function, and satisfaction in a chronic blindness case.</p>","PeriodicalId":49762,"journal":{"name":"Neurocase","volume":" ","pages":"226-233"},"PeriodicalIF":0.6,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142787482","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 professional musician with progressive visuospatial concerns: a case study and review of musical alexia. 具有进步性视觉空间关注的专业音乐家：音乐失读症的个案研究与回顾。
IF 0.6 4区 医学
Neurocase Pub Date : 2024-12-01 Epub Date: 2024-12-10 DOI: 10.1080/13554794.2024.2438413
Bronte Ficek-Tani, Samantha Tun, Alexander Frolov, Emily Sharp, Carolyn A Fredericks
{"title":"A professional musician with progressive visuospatial concerns: a case study and review of musical alexia.","authors":"Bronte Ficek-Tani, Samantha Tun, Alexander Frolov, Emily Sharp, Carolyn A Fredericks","doi":"10.1080/13554794.2024.2438413","DOIUrl":"10.1080/13554794.2024.2438413","url":null,"abstract":"<p><p>This case report presents the story of Mr. S, a professional orchestral musician with declining musical sight-reading ability, followed by progressive visuospatial and language deficits. Our novel musical assessment battery revealed deficits in music-reading (musical alexia) and music-writing (musical agraphia), with spared auditory perception and expression. Taken with neuropsychological testing, clinical history, and imaging, we conclude that his symptoms evolved from musical alexia to a multidomain, neurodegenerative process centered in the dominant inferior parietal lobe and temporoparietal junction. We suspect a primary TDP-opathy with comorbid preclinical Alzheimer's disease. Mr. S's case highlights musical symptoms as meaningful, early indicators of neurodegeneration.</p>","PeriodicalId":49762,"journal":{"name":"Neurocase","volume":" ","pages":"214-225"},"PeriodicalIF":0.6,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142802866","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
Lamotrigine as a preventive agent against recurrent catatonia in adult-onset Niemann-Pick Type-C disease: a case report. 拉莫三嗪作为一种预防药物，可预防成人尼曼-皮克C型病的复发性紧张症：一份病例报告。
IF 0.6 4区 医学
Neurocase Pub Date : 2024-12-01 Epub Date: 2024-11-28 DOI: 10.1080/13554794.2024.2436211
Ali Tarık Altunç, İrem Yıldırım, Alperen Kılıç, Burç Çağrı Poyraz, Güneş Kızıltan, Şenol Turan
{"title":"Lamotrigine as a preventive agent against recurrent catatonia in adult-onset Niemann-Pick Type-C disease: a case report.","authors":"Ali Tarık Altunç, İrem Yıldırım, Alperen Kılıç, Burç Çağrı Poyraz, Güneş Kızıltan, Şenol Turan","doi":"10.1080/13554794.2024.2436211","DOIUrl":"10.1080/13554794.2024.2436211","url":null,"abstract":"<p><p>Niemann-Pick Type-C (NPC) disease, an autosomal recessive lysosomal storage disorder, is associated with a spectrum of neuropsychiatric manifestations, including catatonia, which may not respond to conventional treatment. Here we report the case of a patient with adult-type NPC disease who developed catatonia and experienced recurrent catatonic episodes after the administration of antipsychotics required to treat active psychotic symptoms. Despite unsuccessful attempts with lorazepam, clozapine, and memantine to treat the catatonic symptoms, the patient showed improvement with electroconvulsive therapy (ECT). Catatonia recurred shortly after ECT discontinuation and improved with resuming ECT and adding lorazepam. However, catatonia recurred when the ECT frequency was reduced. We were able to resolve the catatonia with a combination of ECT and lorazepam. However, when we reduced the frequency of ECT sessions, the catatonia recurred despite continued lorazepam treatment. Remarkably, the addition of lamotrigine to the patient's treatment resulted in complete remission with no further recurrence of catatonia for 8 months. Our case highlights lamotrigine's mood-stabilizing effect and possible anti-NMDA effect in treating and preventing recurrent catatonia.</p>","PeriodicalId":49762,"journal":{"name":"Neurocase","volume":" ","pages":"238-240"},"PeriodicalIF":0.6,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142741165","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
Alternative treatment in adolescent with anti-NMDA receptor encephalitis catatonia. 青少年抗nmda受体脑炎紧张症的替代治疗。
IF 0.6 4区 医学
Neurocase Pub Date : 2024-12-01 Epub Date: 2024-12-04 DOI: 10.1080/13554794.2024.2436214
Abhishek Wadhwa, Carol Vidal, Yasmina Saade, Nadia Zaim
{"title":"Alternative treatment in adolescent with anti-NMDA receptor encephalitis catatonia.","authors":"Abhishek Wadhwa, Carol Vidal, Yasmina Saade, Nadia Zaim","doi":"10.1080/13554794.2024.2436214","DOIUrl":"10.1080/13554794.2024.2436214","url":null,"abstract":"<p><p>A 12-year-old adolescent diagnosed with Anti-N-Methyl-D-Aspartate receptor encephalitis (ANMDAE) with catatonia was successfully treated with a course of zolpidem after inadequate response and lack of tolerance to first-line treatments, including benzodiazepines and electroconvulsive therapy (ECT). ANMDAE is an immune-mediated disease comprising a complex neuro-psychiatric clinical presentation that can range from memory deficits, seizures, and psychosis, to malignant catatonia. Catatonia is a psychomotor disorder that can increase the risk of medical complications. Current catatonia treatment guidelines include the use of benzodiazepines followed by ECT. Benzodiazepines are highly effective to treat catatonia in adults, with lower remission rates in children and adolescents. However, there are no defined guidelines if a patient fails to respond to the aforementioned treatments. Other treatment options may include zolpidem. To our knowledge, there is little literature on the treatment of catatonia with zolpidem in adolescents with underlying neurological conditions such as ANMDAE. This brief report highlights the importance of early recognition and treatment of ANMDAE with catatonia. It also underscores the lack of treatment guidelines for adolescents treated with immunotherapy presenting catatonia refractory to treatment with benzodiazepines and ECT. Zolpidem may be an alternative treatment for catatonia for patients not responding or tolerating benzodiazepines or ECT.</p>","PeriodicalId":49762,"journal":{"name":"Neurocase","volume":" ","pages":"234-237"},"PeriodicalIF":0.6,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142773779","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 history of lobotomy as a neuropsychiatric intervention in Brazil - a case report of a geriatric patient. 脑白质切除术在巴西作为一种神经精神干预的历史——一位老年患者的病例报告。
IF 0.6 4区 医学
Neurocase Pub Date : 2024-12-01 Epub Date: 2024-12-05 DOI: 10.1080/13554794.2024.2436216
Antonio Sérgio, Andrea Silveira de Souza, Valeska Marinho
{"title":"The history of lobotomy as a neuropsychiatric intervention in Brazil - a case report of a geriatric patient.","authors":"Antonio Sérgio, Andrea Silveira de Souza, Valeska Marinho","doi":"10.1080/13554794.2024.2436216","DOIUrl":"10.1080/13554794.2024.2436216","url":null,"abstract":"<p><p>Lobotomy was a widespread neurosurgical procedure in the first half of the 20th century. It was used as a treatment for various mental disorders. The development of psychosurgeries in Brazil, their indications, effects, consequences, advancements, as well as the social context of the population subjected to it are revised herein. Also, an illustrative case report of an elderly Brazilian bipolar disorder patient who underwent this procedure in the 1940's is described in this paper. The article promotes a critical debate around the ethical and social implications of this practice, contributing to the understanding and reflection on the history of psychiatry, neuroscience, and research ethics.</p>","PeriodicalId":49762,"journal":{"name":"Neurocase","volume":" ","pages":"209-213"},"PeriodicalIF":0.6,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142787481","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
Déjà-vu sensation induced by cortical stimulation of the posterior cingulate cortex. Déjà-vu后扣带皮层刺激引起的感觉。
IF 0.6 4区 医学
Neurocase Pub Date : 2024-12-01 Epub Date: 2024-12-04 DOI: 10.1080/13554794.2024.2436220
Benjamin Cadle, Ian Mutchnick, Samir Karia, Rebecca Stilp, Fábio A Nascimento, Cemal Karakas
{"title":"Déjà-vu sensation induced by cortical stimulation of the posterior cingulate cortex.","authors":"Benjamin Cadle, Ian Mutchnick, Samir Karia, Rebecca Stilp, Fábio A Nascimento, Cemal Karakas","doi":"10.1080/13554794.2024.2436220","DOIUrl":"10.1080/13554794.2024.2436220","url":null,"abstract":"<p><p>We report a case of a 19-year-old woman with drug-resistant focal epilepsy whose typical seizure semiology involved sensations of déjà-vu. She underwent intracranial stimulation, leading to déjà-vu upon stimulation of the posterior cingulate cortex (PCC). Most reports of induced déjà-vu and epilepsy-associated déjà-vu emphasize networks including temporal lobe, especially the rhinal cortices, as the generator of this phenomenon. However, evidence from healthy individuals and those with confirmed cingulate epilepsy suggests that the PCC may play a role in some experiences of déjà-vu or other dreamy state phenomena. This case adds to the body of evidence suggesting a role for the PCC in déjà-vu. It also highlights the importance of including the PCC in intracranial investigations of some suspected temporal lobe epilepsies.</p>","PeriodicalId":49762,"journal":{"name":"Neurocase","volume":" ","pages":"241-245"},"PeriodicalIF":0.6,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142781691","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 mimicking normal pressure hydrocephalus in a female older patient: co-existence of probable Alzheimer's dementia and colpocephaly. 老年女性患者模拟正常压力性脑积水一例：可能存在阿尔茨海默氏痴呆和阴道畸形。
IF 0.6 4区 医学
Neurocase Pub Date : 2024-12-01 Epub Date: 2024-11-30 DOI: 10.1080/13554794.2024.2436218
Suleyman Emre Fidan, Suleyman Emre Kocyigit
{"title":"A case of mimicking normal pressure hydrocephalus in a female older patient: co-existence of probable Alzheimer's dementia and colpocephaly.","authors":"Suleyman Emre Fidan, Suleyman Emre Kocyigit","doi":"10.1080/13554794.2024.2436218","DOIUrl":"10.1080/13554794.2024.2436218","url":null,"abstract":"<p><p>Colpocephaly, a cause of hydrocephalus, is characterized by disproportionately enlarged occipital horns of the lateral ventricles. It is rarely seen in the older adults. Few cases were reported as colpocephaly in elderly individuals in the literature. However, it has not been reported as idiopathic normal pressure hydrocephalus-like clinical presentation in older adults. To the best of our knowledge, the co-existence of colpocephaly and Alzheimer's disease has not been reported previously. In these respects, it is the first case in the literature.</p>","PeriodicalId":49762,"journal":{"name":"Neurocase","volume":" ","pages":"246-249"},"PeriodicalIF":0.6,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142773717","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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