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Early-onset Alzheimer dementia superimposed on schizophrenia: a rare case report. 与精神分裂症叠加的早发性阿尔茨海默痴呆症：一例罕见病例报告。
IF 0.6 4区 医学
Neurocase Pub Date : 2024-08-01 Epub Date: 2024-07-05 DOI: 10.1080/13554794.2024.2374544
Muhammed Emin Boylu, Elifnaz Uyar
{"title":"Early-onset Alzheimer dementia superimposed on schizophrenia: a rare case report.","authors":"Muhammed Emin Boylu, Elifnaz Uyar","doi":"10.1080/13554794.2024.2374544","DOIUrl":"10.1080/13554794.2024.2374544","url":null,"abstract":"<p><p>Disorganized behavior is a primary sign of schizophrenia. Yet it is not unique to schizophrenia. Recently, there has been a growing understanding that endogenous mental disorders could be a prodromal stage of neurodegenerative dementia. As a result, the connection between endogenous mental disorders and dementia has become a subject of significant interest. In the present study, a 49-year-old female with schizophrenia since the age of 17 was diagnosed with early-onset Alzheimer's disease after a detailed examination with PET and cerebrospinal fluid, despite suspicion of organic disease due to progressive forgetfulness, abnormal behavior and delusions. Schizophrenia is not the only disorder in which disorganized behavior is seen. When such a clinical phenomenon develops, other possible causes should be considered. Dementia is one of the most important of these causes. In a psychiatric disorder with disorganized behavior, other possible causes, especially dementia, should be considered.</p>","PeriodicalId":49762,"journal":{"name":"Neurocase","volume":" ","pages":"116-120"},"PeriodicalIF":0.6,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141535755","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 patient with Parkinson's disease presenting with isolated progressive micrographia. 一名罕见的帕金森病患者出现孤立的进行性小写症。
IF 0.6 4区 医学
Neurocase Pub Date : 2024-08-01 Epub Date: 2024-10-05 DOI: 10.1080/13554794.2024.2406591
Halil Onder, Beyza Nur Cetin, Selcuk Comoglu
{"title":"A rare patient with Parkinson's disease presenting with isolated progressive micrographia.","authors":"Halil Onder, Beyza Nur Cetin, Selcuk Comoglu","doi":"10.1080/13554794.2024.2406591","DOIUrl":"10.1080/13554794.2024.2406591","url":null,"abstract":"<p><p>Although handwriting impairment is a frequent sign of Parkinson's disease (PD), its significance in the evaluation processes of these patients may be overlooked among physicians. Therefore, we would like to report an illustrative patient who presented with isolated micrographia initially; but received the diagnosis of PD in the follow-up.</p>","PeriodicalId":49762,"journal":{"name":"Neurocase","volume":" ","pages":"153-155"},"PeriodicalIF":0.6,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142378500","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
Unpleasant thoughts and anxiety induced by electrical cortical stimulation. 大脑皮层电刺激诱发的不愉快想法和焦虑。
IF 0.6 4区 医学
Neurocase Pub Date : 2024-08-01 Epub Date: 2024-11-06 DOI: 10.1080/13554794.2024.2426269
Kaori Murakami, Rei Enatsu, Aya Kanno, Chie Kamada, Nobuhiro Mikuni
{"title":"Unpleasant thoughts and anxiety induced by electrical cortical stimulation.","authors":"Kaori Murakami, Rei Enatsu, Aya Kanno, Chie Kamada, Nobuhiro Mikuni","doi":"10.1080/13554794.2024.2426269","DOIUrl":"10.1080/13554794.2024.2426269","url":null,"abstract":"<p><p>Emotional processing has been attracting increased attention. We herein present three patients with intractable epilepsy in whom emotional responses were elicited by electrical cortical stimulation. Negative feelings were produced in all patients; however, the content of each differed. In patient 1, the stimulation of the right anterior cingulate gyrus elicited unpleasant thoughts. In patient 2, the stimulation of the right posterior cingulate gyrus evoked anxiety. In patient 3, the stimulation of the right prefrontal cortex induced anxiety associated with a somatic sensation. Emotional responses comprise various aspects and the cortical areas responsible vary depending on each emotional aspect.</p>","PeriodicalId":49762,"journal":{"name":"Neurocase","volume":" ","pages":"146-148"},"PeriodicalIF":0.6,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142590751","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
Splicing mutations of GALC in adult patient with adult-onset Krabbe disease: case report and review of literature. 成人型克拉伯病患者的 GALC 剪接突变：病例报告和文献综述。
IF 0.6 4区 医学
Neurocase Pub Date : 2024-04-01 Epub Date: 2024-05-18 DOI: 10.1080/13554794.2024.2354541
Yilin Su, Lijian Wei, Lan Wang, Pingyi Xu, Mingshu Mo
{"title":"Splicing mutations of GALC in adult patient with adult-onset Krabbe disease: case report and review of literature.","authors":"Yilin Su, Lijian Wei, Lan Wang, Pingyi Xu, Mingshu Mo","doi":"10.1080/13554794.2024.2354541","DOIUrl":"10.1080/13554794.2024.2354541","url":null,"abstract":"<p><p>Krabbe disease (KD) is classed as the lysosomal storage disease with mutations in the galactosylceramidase (<i>GALC</i>) gene, and commonly showed as autosomal recessive pattern with 30-kb deletion in infantile subtype. In this case, we report a 39-years adult-onset KD (AOKD) patient with multiple sclerosis-like symptoms and neuroimaging changes. She carries the heterozygous mutations in <i>GALC</i> included a missense mutation of <i>c.1901T>C</i> from her mother, and a splicing mutation of <i>c.908+5G>A</i> from her father. The splicing mutations in KD are reviewed and confirmed that <i>c.908+5G>A</i> is a novel splicing mutation in AOKD.</p>","PeriodicalId":49762,"journal":{"name":"Neurocase","volume":" ","pages":"63-67"},"PeriodicalIF":0.6,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140960564","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
L-2-hydroxyglutaric aciduria: a report of clinical, radiological, and genetic characteristics of two siblings from Egypt. L-2-羟基戊二酸尿症：埃及两兄妹的临床、放射学和遗传学特征报告。
IF 0.6 4区 医学
Neurocase Pub Date : 2024-04-01 Epub Date: 2024-05-25 DOI: 10.1080/13554794.2024.2346978
Abdel-Ghaffar Ismail Fayed, Mohie-Eldin Tharwat Mohamed, Elsayed Abed, Mostafa Meshref, Ahmed Ali Mahmoud
{"title":"L-2-hydroxyglutaric aciduria: a report of clinical, radiological, and genetic characteristics of two siblings from Egypt.","authors":"Abdel-Ghaffar Ismail Fayed, Mohie-Eldin Tharwat Mohamed, Elsayed Abed, Mostafa Meshref, Ahmed Ali Mahmoud","doi":"10.1080/13554794.2024.2346978","DOIUrl":"10.1080/13554794.2024.2346978","url":null,"abstract":"<p><p>L-2-hydroxyglutaric aciduria (L-2-HGA) is a rare autosomal recessive disease characterized by elevated levels of hydroxyglutaric acid in the body fluids and brain with abnormal white matter. We present two siblings with psychomotor retardation and quadriparesis. Their brain imaging showed diffuse bilateral symmetrical involvement of the cerebral cortex, white matter, basal ganglia and cerebellum. The whole exome sequence studies revealed a homozygous likely pathogenic variant on chromosome 14q22.1 (NM_024884.2: c.178G > A; pGly60Arg) in the gene encoding for L-2-hydroxyglutarate dehydrogenase (L2HGDH) (OMIM #236792). Therefore, using the L2HGDH gene study is beneficial for L2HGA diagnosis.</p>","PeriodicalId":49762,"journal":{"name":"Neurocase","volume":" ","pages":"77-82"},"PeriodicalIF":0.6,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141097186","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
Continuous spike-wave of slow sleep in a patient with KCNB1-related epilepsy responsive to highly purified cannabidiol: a case report and comparison with literature. 一名对高度纯化大麻二酚有反应的 KCNB1 相关癫痫患者的连续尖波慢速睡眠：病例报告及与文献的比较。
IF 0.8 4区 医学
Neurocase Pub Date : 2024-04-01 Epub Date: 2024-05-20 DOI: 10.1080/13554794.2024.2354952
Giulia Ferrera, Emilia Ricci, Angela Peron, Elena Parrini, Aglai Vignoli, Maria Paola Canevini
{"title":"Continuous spike-wave of slow sleep in a patient with <i>KCNB1</i>-related epilepsy responsive to highly purified cannabidiol: a case report and comparison with literature.","authors":"Giulia Ferrera, Emilia Ricci, Angela Peron, Elena Parrini, Aglai Vignoli, Maria Paola Canevini","doi":"10.1080/13554794.2024.2354952","DOIUrl":"10.1080/13554794.2024.2354952","url":null,"abstract":"<p><p><i>KCNB1</i>-associated encephalopathy is characterized by intellectual disability (ID), autism spectrum disorder and epilepsy. Specific treatments are still lacking. We describe a 12-year-old boy with severe ID and treatment-resistant seizures due to a pathogenic <i>KCNB1</i> variant. His EEG showed a CSWS pattern. Aged 11, he started treatment with highly purified cannabidiol (CBD) and has been seizure free for 18 months, with significant EEG and social skills improvements. This suggests CBD may benefit CSWS, likely due to its anti-inflammatory properties. Some preclinical studies also indicate CBDs interact with voltage-gated channels, leading us to speculate its possible role for treating <i>KCNB1</i> related encephalopathy.</p>","PeriodicalId":49762,"journal":{"name":"Neurocase","volume":" ","pages":"68-72"},"PeriodicalIF":0.8,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141072123","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
Bilateral hypogeusia and food aversion due to lacunar infarct in the right dorsomedial pontine tegmentum. 右侧背内侧桥脑被盖腔腔隙性梗死导致的双侧味觉减退和食物厌恶。
IF 0.6 4区 医学
Neurocase Pub Date : 2024-04-01 Epub Date: 2024-05-18 DOI: 10.1080/13554794.2024.2353391
Maria Anna Brandão, Thiago Paranhos, Thomas Hummel, Ricardo de Oliveira-Souza
{"title":"Bilateral hypogeusia and food aversion due to lacunar infarct in the right dorsomedial pontine tegmentum.","authors":"Maria Anna Brandão, Thiago Paranhos, Thomas Hummel, Ricardo de Oliveira-Souza","doi":"10.1080/13554794.2024.2353391","DOIUrl":"10.1080/13554794.2024.2353391","url":null,"abstract":"<p><p>A 70-year-old right-handed housewife suffered an acute loss of taste, an unpleasant change in the taste of foods and liquids, and a strong aversion to all kinds of food due to a small lacune in the right dorsomedial pontine tegmentum. Eating became so unpleasant that she lost 7 kg in three weeks. Olfaction and the sensibility of the tongue were spared. The right medial longitudinal fascicle, the central tegmental tract, or both, were injured by the tegmental lesion. A discrete right-sided lesion in the upper pontine tegmentum may cause a reversible syndrome consisting of bilateral hypogeusia which is more severe ipsilaterally.</p>","PeriodicalId":49762,"journal":{"name":"Neurocase","volume":" ","pages":"55-62"},"PeriodicalIF":0.6,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140960636","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
Acute transitory head mislocalization - a novel syndrome of pathological embodiment in a patient with traumatic brain injury - a case study. 急性短暂性头部错位--脑外伤患者病理体现的新型综合征--病例研究。
IF 0.6 4区 医学
Neurocase Pub Date : 2024-04-01 Epub Date: 2024-05-21 DOI: 10.1080/13554794.2024.2356892
Appaswamy Thirumal Prabhakar, Srija Inturi, Anupama Roy, Sharath Kumar, Kavitha Margabandhu, Jessica Michael, Thanusha K Prasad
{"title":"Acute transitory head mislocalization - a novel syndrome of pathological embodiment in a patient with traumatic brain injury - a case study.","authors":"Appaswamy Thirumal Prabhakar, Srija Inturi, Anupama Roy, Sharath Kumar, Kavitha Margabandhu, Jessica Michael, Thanusha K Prasad","doi":"10.1080/13554794.2024.2356892","DOIUrl":"10.1080/13554794.2024.2356892","url":null,"abstract":"<p><p>Feeling of body ownership is a complex process with different brain mechanisms involved in integrating the varied and multiple representations of the body . The ability to discriminate between one's own and others' body parts can be lost after brain damage. We report a unique case study of a patient with head injury who experienced a phenomenon where he felt that his head was positioned with another person standing next to him. We describe this as a form of pathological embodiment and call it the \"head mislocalization\" phenomenon. We report his clinical findings and using the methods of lesion mapping and lesion network mapping postulate the neural mechanisms for this symptom.</p>","PeriodicalId":49762,"journal":{"name":"Neurocase","volume":" ","pages":"73-76"},"PeriodicalIF":0.6,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141072120","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
Diabetic striatopathy: a case report 糖尿病纹状体病变：病例报告
IF 0.8 4区 医学
Neurocase Pub Date : 2024-02-17 DOI: 10.1080/13554794.2024.2317788
Yi Guan, Lu Yuan, Lei Yuan
{"title":"Diabetic striatopathy: a case report","authors":"Yi Guan, Lu Yuan, Lei Yuan","doi":"10.1080/13554794.2024.2317788","DOIUrl":"https://doi.org/10.1080/13554794.2024.2317788","url":null,"abstract":"Diabetic striatopathy, a rare condition also known as hyperglycemic nonketotic hemichorea, is characterized by chorea or hemiballismus and distinctive basal ganglia abnormalities visible on neuroim...","PeriodicalId":49762,"journal":{"name":"Neurocase","volume":"20 1","pages":""},"PeriodicalIF":0.8,"publicationDate":"2024-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139768917","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
Functional neuroimaging and behavioral correlates of multisite tDCS as an add-on to language training in a person with post-stroke non-fluent aphasia: a year-long case study. 脑卒中后非流利性失语症患者在语言训练基础上进行多部位 tDCS 的功能神经影像学和行为学相关性：一项为期一年的病例研究。
IF 0.6 4区 医学
Neurocase Pub Date : 2024-02-01 Epub Date: 2024-05-03 DOI: 10.1080/13554794.2024.2349327
Augusto J Mendes, Alberto Lema, José Miguel Soares, Adriana Sampaio, Jorge Leite, Sandra Carvalho
{"title":"Functional neuroimaging and behavioral correlates of multisite tDCS as an add-on to language training in a person with post-stroke non-fluent aphasia: a year-long case study.","authors":"Augusto J Mendes, Alberto Lema, José Miguel Soares, Adriana Sampaio, Jorge Leite, Sandra Carvalho","doi":"10.1080/13554794.2024.2349327","DOIUrl":"10.1080/13554794.2024.2349327","url":null,"abstract":"<p><p>Mary, who experienced non-fluent aphasia as a result of an ischemic stroke, received 10 years of personalized language training (LT), resulting in transient enhancements in speech and comprehension. To enhance these effects, multisite transcranial Direct Current Stimulation (tDCS) was added to her LT regimen for 15 sessions. Assessment using the Reliable Change Index showed that this combination improved her left inferior frontal connectivity and speech production for two months and significantly improved comprehension after one month. The results indicate that using multisite transcranial direct current stimulation (tDCS) can improve the effectiveness of language therapy (LT) for individuals with non-fluent aphasia.</p>","PeriodicalId":49762,"journal":{"name":"Neurocase","volume":" ","pages":"8-17"},"PeriodicalIF":0.6,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140856596","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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