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A case of mimicking normal pressure hydrocephalus in a female older patient: co-existence of probable Alzheimer's dementia and colpocephaly.
IF 0.6 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2024-12-01 Epub Date: 2024-11-30 DOI: 10.1080/13554794.2024.2436218
Suleyman Emre Fidan, Suleyman Emre Kocyigit

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.

{"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
Comprehensive evaluation and diagnosis of persistent vegetative state after hypoxic-ischemic encephalopathy: a case report.
IF 0.6 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2024-11-30 DOI: 10.1080/13554794.2024.2436682
Guohui Yang, Li Wang, Hongyu Xie, Xinwei Tang, Maisedi Mukedaisihan, Youbei Yang, Chenyu Fan, Junfa Wu, Yi Wu

We report a case of a 39-year-old woman with persistent vegetative state (PVS) following cardiac arrest and a right lower extremity fracture. Despite comprehensive rehabilitation for over 4 months, there was no improvement. Neuroelectrophysiological and neuroimaging assessments showed poor brain function, and the coma recovery scale-revised scale results suggested low arousal probability. Furthermore, patients with PVS exhibit autonomic reactivity and physiological responses to external stimuli. It is important to note that while these reactions may manifest as responsiveness to external stimuli, they should be interpreted as automatic physiological responses rather than indicative of consciousness.

{"title":"Comprehensive evaluation and diagnosis of persistent vegetative state after hypoxic-ischemic encephalopathy: a case report.","authors":"Guohui Yang, Li Wang, Hongyu Xie, Xinwei Tang, Maisedi Mukedaisihan, Youbei Yang, Chenyu Fan, Junfa Wu, Yi Wu","doi":"10.1080/13554794.2024.2436682","DOIUrl":"https://doi.org/10.1080/13554794.2024.2436682","url":null,"abstract":"<p><p>We report a case of a 39-year-old woman with persistent vegetative state (PVS) following cardiac arrest and a right lower extremity fracture. Despite comprehensive rehabilitation for over 4 months, there was no improvement. Neuroelectrophysiological and neuroimaging assessments showed poor brain function, and the coma recovery scale-revised scale results suggested low arousal probability. Furthermore, patients with PVS exhibit autonomic reactivity and physiological responses to external stimuli. It is important to note that while these reactions may manifest as responsiveness to external stimuli, they should be interpreted as automatic physiological responses rather than indicative of consciousness.</p>","PeriodicalId":49762,"journal":{"name":"Neurocase","volume":" ","pages":"1-6"},"PeriodicalIF":0.6,"publicationDate":"2024-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142773920","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
Artificial neural network for evaluating sleep spindles and slow waves after transcranial magnetic stimulation in a child with autism.
IF 0.6 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2024-10-01 Epub Date: 2024-12-04 DOI: 10.1080/13554794.2024.2436208
Elisa Ester Ortiz-Cruz, Fructuoso Ayala-Guerrero, Erik Leonardo Mateos-Salgado, Jorge Bernal-Hernández, Humberto Andrés Carillo-Calvet, José Luis Jiménez-Andrade

Sleep spindles (SS) and slow waves (SW) serve as indicators of the integrity of thalamocortical connections, which are often compromised in individuals with autism spectrum disorder (ASD). Transcranial magnetic stimulation (TMS) can modulate brain activity associated with ASD. This study evaluated the effects of TMS on SS and SW in an 11-year-old male with ASD who received 17 sessions of TMS on the dorsolateral prefrontal cortex. Both SS and SW were detected before and after TMS and were analyzed using self-organizing maps (SOM). Using the SOM, a subset of SS and SW was identified that exhibited structural changes after TMS.

{"title":"Artificial neural network for evaluating sleep spindles and slow waves after transcranial magnetic stimulation in a child with autism.","authors":"Elisa Ester Ortiz-Cruz, Fructuoso Ayala-Guerrero, Erik Leonardo Mateos-Salgado, Jorge Bernal-Hernández, Humberto Andrés Carillo-Calvet, José Luis Jiménez-Andrade","doi":"10.1080/13554794.2024.2436208","DOIUrl":"10.1080/13554794.2024.2436208","url":null,"abstract":"<p><p>Sleep spindles (SS) and slow waves (SW) serve as indicators of the integrity of thalamocortical connections, which are often compromised in individuals with autism spectrum disorder (ASD). Transcranial magnetic stimulation (TMS) can modulate brain activity associated with ASD. This study evaluated the effects of TMS on SS and SW in an 11-year-old male with ASD who received 17 sessions of TMS on the dorsolateral prefrontal cortex. Both SS and SW were detected before and after TMS and were analyzed using self-organizing maps (SOM). Using the SOM, a subset of SS and SW was identified that exhibited structural changes after TMS.</p>","PeriodicalId":49762,"journal":{"name":"Neurocase","volume":" ","pages":"189-197"},"PeriodicalIF":0.6,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142773904","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
Comparison of executive function in idiopathic generalized epilepsy versus temporal lobe epilepsy.
IF 0.6 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2024-10-01 Epub Date: 2024-11-29 DOI: 10.1080/13554794.2024.2436160
Nahid Ashjazadeh, Ali Namjoo-Moghadam, Arash Mani, Neda Doostmohammadi, Mahnaz Bayat, Mohammad Saied Salehi, Elahe Rafiei, Mahtab Rostamihosseinkhani, Alireza Khani-Robati, Etrat Hooshmandi

Executive function (EF) deficits are common in epilepsy and impact quality of life. This study compares EF in idiopathic generalized epilepsy (IGE) and temporal lobe epilepsy (TLE) patients to healthy controls. Fifty-six IGE patients, 56 TLE patients, and 60 controls (matched by age) completed cognitive tests assessing attention, memory, learning, and verbal fluency. Both epilepsy groups performed worse than controls, with TLE patients showing significantly poorer verbal learning and memory compared to IGE patients. These findings suggest that TLE patients have more severe EF impairments, likely due to focal temporal lobe dysfunction and disruptions in EF networks.

{"title":"Comparison of executive function in idiopathic generalized epilepsy versus temporal lobe epilepsy.","authors":"Nahid Ashjazadeh, Ali Namjoo-Moghadam, Arash Mani, Neda Doostmohammadi, Mahnaz Bayat, Mohammad Saied Salehi, Elahe Rafiei, Mahtab Rostamihosseinkhani, Alireza Khani-Robati, Etrat Hooshmandi","doi":"10.1080/13554794.2024.2436160","DOIUrl":"10.1080/13554794.2024.2436160","url":null,"abstract":"<p><p>Executive function (EF) deficits are common in epilepsy and impact quality of life. This study compares EF in idiopathic generalized epilepsy (IGE) and temporal lobe epilepsy (TLE) patients to healthy controls. Fifty-six IGE patients, 56 TLE patients, and 60 controls (matched by age) completed cognitive tests assessing attention, memory, learning, and verbal fluency. Both epilepsy groups performed worse than controls, with TLE patients showing significantly poorer verbal learning and memory compared to IGE patients. These findings suggest that TLE patients have more severe EF impairments, likely due to focal temporal lobe dysfunction and disruptions in EF networks.</p>","PeriodicalId":49762,"journal":{"name":"Neurocase","volume":" ","pages":"167-173"},"PeriodicalIF":0.6,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142752053","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
From garden to madness: herbal products and psychotic experiences.
IF 0.6 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2024-10-01 Epub Date: 2024-11-29 DOI: 10.1080/13554794.2024.2436217
Yaşan Bilge Şair, Ecem Yılmaz Yıldırım, Rabia Elif Zeybek, Gülnaz Şallı Başaran, Levent Sevinçok

Psychotic symptoms, characterized by hallucinations, delusions, and cognitive disturbances, are associated with various psychiatric and neurological disorders. This manuscript explores two cases of acute psychotic episodes triggered by the regular consumption of herbal products. The cases highlight the need for increased awareness of the potential toxic side effects of herbal products. The impact of herbal ingredients like maca and matcha on neurotransmitter activity is explored, shedding light on the underlying mechanisms leading to psychosis. The manuscript highlights the need to report both the benefits and risks of herbal products, challenging the misconception that they are inherently safe.

{"title":"From garden to madness: herbal products and psychotic experiences.","authors":"Yaşan Bilge Şair, Ecem Yılmaz Yıldırım, Rabia Elif Zeybek, Gülnaz Şallı Başaran, Levent Sevinçok","doi":"10.1080/13554794.2024.2436217","DOIUrl":"10.1080/13554794.2024.2436217","url":null,"abstract":"<p><p>Psychotic symptoms, characterized by hallucinations, delusions, and cognitive disturbances, are associated with various psychiatric and neurological disorders. This manuscript explores two cases of acute psychotic episodes triggered by the regular consumption of herbal products. The cases highlight the need for increased awareness of the potential toxic side effects of herbal products. The impact of herbal ingredients like maca and matcha on neurotransmitter activity is explored, shedding light on the underlying mechanisms leading to psychosis. The manuscript highlights the need to report both the benefits and risks of herbal products, challenging the misconception that they are inherently safe.</p>","PeriodicalId":49762,"journal":{"name":"Neurocase","volume":" ","pages":"198-203"},"PeriodicalIF":0.6,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142752055","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
Jealousy's stroke: Othello syndrome following a percheron artery infarct.
IF 0.6 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2024-10-01 Epub Date: 2024-12-05 DOI: 10.1080/13554794.2024.2436159
Ghita Hjiej, Maha Abdellaoui, Hajar Khattab, Kamal Haddouali, Salma Bellakhdar, Bouchera El Moutawakil, Mohammed Abdoh Rafai, Hicham El Otmani

Introduction: Othello syndrome is a psychosis with delusions of infidelity, where the patient harbors a persistent, unfounded belief - a "delusion" - that their partner is being unfaithful. This condition can manifest in certain psychiatric conditions and neurological disorders, such as neurodegenerative diseases, as parkinson's disease treatment side effects, or occasionally after a stroke.

Case: We report a rare case of a 50-year-old woman, with no previous psychiatric history, who developed a delusion of infidelity, leading to verbal and physical aggressions with bladed weapons, days after experiencing a bi-thalamic infarct due to the occlusion of the Percheron artery.

Discussion: Psychosis is the third most common psychiatric symptom post-stroke, with delusional disorders being the most prevalent type. Within this category, delusional jealousy is the second most common subtype, following persecutory delusions. Although no specific brain lesions are exclusively responsible for jealousy delusions, lesions in various regions, particularly in the right hemisphere, have been implicated. Thalamic strokes disrupt the frontal-subcortical-thalamic circuitry, crucial for executive functions, and the dorsomedial nuclei, leading to alterations in limbic circuitry and emotional regulation. These damages can result in significant impairments in impulse control and judgment, manifesting as behavioral disorders due to a flawed interpretation of a partner's actions as infidelity. In this case, our patient experienced a bi-thalamic infarct predominantly on the right side.

Conclusion: Othello syndrome represents a challenging post-stroke complication, highlighting the intricate relationship between neurological damage and psychiatric manifestations. Recognizing and promptly addressing this syndrome is crucial, given its potential for dangerous outcomes.

{"title":"Jealousy's stroke: Othello syndrome following a percheron artery infarct.","authors":"Ghita Hjiej, Maha Abdellaoui, Hajar Khattab, Kamal Haddouali, Salma Bellakhdar, Bouchera El Moutawakil, Mohammed Abdoh Rafai, Hicham El Otmani","doi":"10.1080/13554794.2024.2436159","DOIUrl":"10.1080/13554794.2024.2436159","url":null,"abstract":"<p><strong>Introduction: </strong>Othello syndrome is a psychosis with delusions of infidelity, where the patient harbors a persistent, unfounded belief - a \"delusion\" - that their partner is being unfaithful. This condition can manifest in certain psychiatric conditions and neurological disorders, such as neurodegenerative diseases, as parkinson's disease treatment side effects, or occasionally after a stroke.</p><p><strong>Case: </strong>We report a rare case of a 50-year-old woman, with no previous psychiatric history, who developed a delusion of infidelity, leading to verbal and physical aggressions with bladed weapons, days after experiencing a bi-thalamic infarct due to the occlusion of the Percheron artery.</p><p><strong>Discussion: </strong>Psychosis is the third most common psychiatric symptom post-stroke, with delusional disorders being the most prevalent type. Within this category, delusional jealousy is the second most common subtype, following persecutory delusions. Although no specific brain lesions are exclusively responsible for jealousy delusions, lesions in various regions, particularly in the right hemisphere, have been implicated. Thalamic strokes disrupt the frontal-subcortical-thalamic circuitry, crucial for executive functions, and the dorsomedial nuclei, leading to alterations in limbic circuitry and emotional regulation. These damages can result in significant impairments in impulse control and judgment, manifesting as behavioral disorders due to a flawed interpretation of a partner's actions as infidelity. In this case, our patient experienced a bi-thalamic infarct predominantly on the right side.</p><p><strong>Conclusion: </strong>Othello syndrome represents a challenging post-stroke complication, highlighting the intricate relationship between neurological damage and psychiatric manifestations. Recognizing and promptly addressing this syndrome is crucial, given its potential for dangerous outcomes.</p>","PeriodicalId":49762,"journal":{"name":"Neurocase","volume":" ","pages":"204-207"},"PeriodicalIF":0.6,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142781693","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
DTI and fMRI alterations in a surgically-treated patient with moyamoya disease suffering severe speech impairments.
IF 0.6 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2024-10-01 Epub Date: 2024-12-04 DOI: 10.1080/13554794.2024.2436163
Anton Pashkov, Elena Filimonova, Azniv Martirosyan, Konstantin Ovsyannikov, Galina Gunenko, Galina Moysak, Jamil Rzaev

Moyamoya is a rare chronic brain vascular disease with a set of potential life-threatening consequences due to a high probability of stroke occurrence. Here we present a case of a patient with moyamoya disease, who has been dynamically observed over more than 4 years after the first manifestation of her symptoms. In this study we report fMRI and DTI findings obtained at the final follow-up point, four years after two revascularization surgeries were successfully performed. Our findings lend support to the idea that revascularization surgery is effective in preventing future strokes, but may lead to only minor improvement in cognitive performance.

{"title":"DTI and fMRI alterations in a surgically-treated patient with moyamoya disease suffering severe speech impairments.","authors":"Anton Pashkov, Elena Filimonova, Azniv Martirosyan, Konstantin Ovsyannikov, Galina Gunenko, Galina Moysak, Jamil Rzaev","doi":"10.1080/13554794.2024.2436163","DOIUrl":"10.1080/13554794.2024.2436163","url":null,"abstract":"<p><p>Moyamoya is a rare chronic brain vascular disease with a set of potential life-threatening consequences due to a high probability of stroke occurrence. Here we present a case of a patient with moyamoya disease, who has been dynamically observed over more than 4 years after the first manifestation of her symptoms. In this study we report fMRI and DTI findings obtained at the final follow-up point, four years after two revascularization surgeries were successfully performed. Our findings lend support to the idea that revascularization surgery is effective in preventing future strokes, but may lead to only minor improvement in cognitive performance.</p>","PeriodicalId":49762,"journal":{"name":"Neurocase","volume":" ","pages":"174-180"},"PeriodicalIF":0.6,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142781692","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
Psycholinguistic predictors of naming accuracy and decline in bilingual logopenic primary progressive aphasia: a cross-linguistic case study.
IF 0.6 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2024-10-01 Epub Date: 2024-12-04 DOI: 10.1080/13554794.2024.2436165
Fatima Jebahi, Vicky Tzuyin Lai, Aneta Kielar

Naming impairment is a hallmark of logopenic primary progressive aphasia (lvPPA), yet its effects in bilingualism remain understudied. This study examined naming accuracy in a 78-year-old Chinese-English bilingual woman with lvPPA over two years using a modified Boston Naming Test. Naming accuracy was higher in her second, but more frequently used language (English) than her first, but less frequently used language (Chinese). Regression analyses revealed that familiarity predicted naming in Chinese, while word length and age of acquisition influenced English. Decline was linked to age of acquisition in Chinese and emotional properties in English, highlighting language-specific patterns in bilingual lvPPA.

{"title":"Psycholinguistic predictors of naming accuracy and decline in bilingual logopenic primary progressive aphasia: a cross-linguistic case study.","authors":"Fatima Jebahi, Vicky Tzuyin Lai, Aneta Kielar","doi":"10.1080/13554794.2024.2436165","DOIUrl":"10.1080/13554794.2024.2436165","url":null,"abstract":"<p><p>Naming impairment is a hallmark of logopenic primary progressive aphasia (lvPPA), yet its effects in bilingualism remain understudied. This study examined naming accuracy in a 78-year-old Chinese-English bilingual woman with lvPPA over two years using a modified Boston Naming Test. Naming accuracy was higher in her second, but more frequently used language (English) than her first, but less frequently used language (Chinese). Regression analyses revealed that familiarity predicted naming in Chinese, while word length and age of acquisition influenced English. Decline was linked to age of acquisition in Chinese and emotional properties in English, highlighting language-specific patterns in bilingual lvPPA.</p>","PeriodicalId":49762,"journal":{"name":"Neurocase","volume":" ","pages":"181-188"},"PeriodicalIF":0.6,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142781694","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 amusia with beat deafness and apraxia of speech.
IF 0.6 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2024-10-01 Epub Date: 2024-12-03 DOI: 10.1080/13554794.2024.2436158
Masayuki Satoh, Ken-Ichi Tabei, Makiko Abe

After experiencing two ischemic brain attacks, a 40-year-old, right-handed, female amateur cello player developed apraxia of speech (AOS) and amusia, especially on the aspect of the beat. Her tempo became gradually faster, but while playing, she could not recognize that. When she listened to her own recorded performances, she could identify the differences immediately and precisely. Brain MRI showed lesions in the right superior temporal lobe, temporal plate, and right and left precentral gyri. Neuromusicological assessments revealed severe beat impairment and moderate pitch impairment. We diagnosed her with beat deafness of music, possibly caused by the bilateral precentral gyri lesions.

{"title":"A case of amusia with beat deafness and apraxia of speech.","authors":"Masayuki Satoh, Ken-Ichi Tabei, Makiko Abe","doi":"10.1080/13554794.2024.2436158","DOIUrl":"10.1080/13554794.2024.2436158","url":null,"abstract":"<p><p>After experiencing two ischemic brain attacks, a 40-year-old, right-handed, female amateur cello player developed apraxia of speech (AOS) and amusia, especially on the aspect of the beat. Her tempo became gradually faster, but while playing, she could not recognize that. When she listened to her own recorded performances, she could identify the differences immediately and precisely. Brain MRI showed lesions in the right superior temporal lobe, temporal plate, and right and left precentral gyri. Neuromusicological assessments revealed severe beat impairment and moderate pitch impairment. We diagnosed her with beat deafness of music, possibly caused by the bilateral precentral gyri lesions.</p>","PeriodicalId":49762,"journal":{"name":"Neurocase","volume":" ","pages":"159-166"},"PeriodicalIF":0.6,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142773739","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
C19orf12 gene mutation with neuropsychiatric symptoms: a case report. 伴有神经精神症状的 C19orf12 基因突变:病例报告。
IF 0.6 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2024-08-01 Epub Date: 2024-11-10 DOI: 10.1080/13554794.2024.2426822
İrem Yıldırım, Ali Tarık Altunç, Ege Gür, Gamze Hacikurteş, Nazife Gamze Usta Sağlam, Güneş Kızıltan, Şenol Turan

Neurodegeneration with brain iron accumulation (NBIA) is a genetic disorder characterized by iron accumulation in the basal ganglia. Patients may develop behavioral abnormalities, dementia, movement disorders, and neuropsychiatric symptoms such as emotional lability, depression, anxiety, hallucinations, impulsivity, obsessions, and hyperactivity. In this case, a 46-year-old male patient with a C19orf12 mutation experienced depressive complaints before movement disorders, followed by cognitive deficits and psychotic symptoms as the disease progressed. The patient's response to quetiapine treatment is crucial for managing neuropsychiatric symptoms. This case could contribute to the literature on presentation, differential diagnosis, and management of neuropsychiatric symptoms in rare NBIA patients.

脑铁积聚性神经变性(NBIA)是一种遗传性疾病,其特征是基底节铁积聚。患者可能出现行为异常、痴呆、运动障碍和神经精神症状,如情绪不稳、抑郁、焦虑、幻觉、冲动、强迫和多动。在本病例中,一名 46 岁的男性患者因 C19orf12 基因突变,在出现运动障碍之前曾有抑郁的主诉,随后随着病情的发展出现了认知障碍和精神症状。患者对奎硫平治疗的反应对于控制神经精神症状至关重要。本病例有助于丰富有关罕见 NBIA 患者神经精神症状的表现、鉴别诊断和处理的文献。
{"title":"C19orf12 gene mutation with neuropsychiatric symptoms: a case report.","authors":"İrem Yıldırım, Ali Tarık Altunç, Ege Gür, Gamze Hacikurteş, Nazife Gamze Usta Sağlam, Güneş Kızıltan, Şenol Turan","doi":"10.1080/13554794.2024.2426822","DOIUrl":"10.1080/13554794.2024.2426822","url":null,"abstract":"<p><p>Neurodegeneration with brain iron accumulation (NBIA) is a genetic disorder characterized by iron accumulation in the basal ganglia. Patients may develop behavioral abnormalities, dementia, movement disorders, and neuropsychiatric symptoms such as emotional lability, depression, anxiety, hallucinations, impulsivity, obsessions, and hyperactivity. In this case, a 46-year-old male patient with a C19orf12 mutation experienced depressive complaints before movement disorders, followed by cognitive deficits and psychotic symptoms as the disease progressed. The patient's response to quetiapine treatment is crucial for managing neuropsychiatric symptoms. This case could contribute to the literature on presentation, differential diagnosis, and management of neuropsychiatric symptoms in rare NBIA patients.</p>","PeriodicalId":49762,"journal":{"name":"Neurocase","volume":" ","pages":"156-158"},"PeriodicalIF":0.6,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142631290","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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