Anti-aminoacyl tRNA synthetase (ARS) antibodies are the most frequent in idiopathic inflammatory myopathy, notably associated with anti-synthetase syndrome (ASyS), which is characterized by six clinical features: arthritis, myositis, interstitial lung disease (ILD), fever, Raynaud's phenomenon, and mechanical hands. Although patients with ASyS often respond well to initial glucocorticoid (GC) therapy, they tend to have a chronic, recurrent disease course. In anti-ARS-positive patients, the treatment goal involves suppressing disease recurrence and progression while achieving a minimal GC dose. In this regard, the administration and continuation of immunosuppressants, such as calcineurin inhibitors, have been suggested. B-cell depletion therapies are expected to be valuable in patients with refractory ASyS. Moreover, additional antifibrotic agents may be beneficial for patients with progressive fibrosing ILD.
{"title":"[Treatment Strategies for Anti-Synthetase Syndrome].","authors":"Ran Nakashima","doi":"10.11477/mf.1416202656","DOIUrl":"10.11477/mf.1416202656","url":null,"abstract":"<p><p>Anti-aminoacyl tRNA synthetase (ARS) antibodies are the most frequent in idiopathic inflammatory myopathy, notably associated with anti-synthetase syndrome (ASyS), which is characterized by six clinical features: arthritis, myositis, interstitial lung disease (ILD), fever, Raynaud's phenomenon, and mechanical hands. Although patients with ASyS often respond well to initial glucocorticoid (GC) therapy, they tend to have a chronic, recurrent disease course. In anti-ARS-positive patients, the treatment goal involves suppressing disease recurrence and progression while achieving a minimal GC dose. In this regard, the administration and continuation of immunosuppressants, such as calcineurin inhibitors, have been suggested. B-cell depletion therapies are expected to be valuable in patients with refractory ASyS. Moreover, additional antifibrotic agents may be beneficial for patients with progressive fibrosing ILD.</p>","PeriodicalId":52507,"journal":{"name":"Brain and Nerve","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140917475","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Neuropathological findings rarely lead to a definitive diagnosis of autoimmune and inflammatory peripheral nerve diseases, and indications for invasive nerve biopsy with subsequent disability should be carefully determined. In addition to disease-specific pathological findings, identifying findings that facilitate differential diagnosis in clinical practice is necessary. This article reviews the neuropathological findings that are valuable in the differential diagnosis of autoimmune and inflammatory peripheral nerve diseases.
{"title":"[Utilization of Peripheral Neuropathology Tests].","authors":"Ryota Sato","doi":"10.11477/mf.1416202632","DOIUrl":"10.11477/mf.1416202632","url":null,"abstract":"<p><p>Neuropathological findings rarely lead to a definitive diagnosis of autoimmune and inflammatory peripheral nerve diseases, and indications for invasive nerve biopsy with subsequent disability should be carefully determined. In addition to disease-specific pathological findings, identifying findings that facilitate differential diagnosis in clinical practice is necessary. This article reviews the neuropathological findings that are valuable in the differential diagnosis of autoimmune and inflammatory peripheral nerve diseases.</p>","PeriodicalId":52507,"journal":{"name":"Brain and Nerve","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140917478","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Guillain-Barré syndrome (GBS), an acute immune-mediated neuropathy, occurs following immunological stimulation, such as infection, with complement-mediated neuropathy implicated in the pathophysiology of this condition. Glycolipid antibodies produced by molecular mimicry are detected in approximately 60% of cases. Recent studies have suggested the role of cell-mediated immunity in the pathogenesis of GBS. Intravenous immunoglobulin and plasma exchange are established immunotherapies. In this article, based on the latest knowledge, we describe the pathophysiology, diagnosis, treatment, prognosis, and prognostic prediction of GBS. Furthermore, we discuss some GBS guidelines published by the European Academy of Neurology/Peripheral Nerve Society.
{"title":"[Guillain-Barré syndrome].","authors":"Kenichi Kaida","doi":"10.11477/mf.1416202635","DOIUrl":"10.11477/mf.1416202635","url":null,"abstract":"<p><p>Guillain-Barré syndrome (GBS), an acute immune-mediated neuropathy, occurs following immunological stimulation, such as infection, with complement-mediated neuropathy implicated in the pathophysiology of this condition. Glycolipid antibodies produced by molecular mimicry are detected in approximately 60% of cases. Recent studies have suggested the role of cell-mediated immunity in the pathogenesis of GBS. Intravenous immunoglobulin and plasma exchange are established immunotherapies. In this article, based on the latest knowledge, we describe the pathophysiology, diagnosis, treatment, prognosis, and prognostic prediction of GBS. Furthermore, we discuss some GBS guidelines published by the European Academy of Neurology/Peripheral Nerve Society.</p>","PeriodicalId":52507,"journal":{"name":"Brain and Nerve","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140917434","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Measurement of autoantibodies is essential for the management of several peripheral nerve and muscle diseases. The clinical significance of autoantibody testing differs for each antibody. In addition, clinicians must understand several issues including the accuracy of the test, isotype and subclass distribution, and its relationship to disease activity. Moreover, many autoantibody tests are not covered by health insurance. With limited medical resources, clinicians are required to be up-to-date with the latest information to utilize test results in daily practice without misunderstanding.
{"title":"[How to Perform Autoantibody Testing for Autoimmune and Inflammatory Diseases of Peripheral Nerves and Muscles].","authors":"Michiaki Koga","doi":"10.11477/mf.1416202629","DOIUrl":"10.11477/mf.1416202629","url":null,"abstract":"<p><p>Measurement of autoantibodies is essential for the management of several peripheral nerve and muscle diseases. The clinical significance of autoantibody testing differs for each antibody. In addition, clinicians must understand several issues including the accuracy of the test, isotype and subclass distribution, and its relationship to disease activity. Moreover, many autoantibody tests are not covered by health insurance. With limited medical resources, clinicians are required to be up-to-date with the latest information to utilize test results in daily practice without misunderstanding.</p>","PeriodicalId":52507,"journal":{"name":"Brain and Nerve","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140917435","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Diabetes stands as the predominant cause of peripheral neuropathy, and diabetic neuropathy (DN) is an early-onset and most frequent complication of diabetes. Distal symmetric polyneuropathy is the major form of DN; however, various patterns of nerve injury can manifest. Growing evidence suggests that hyperglycemia-related metabolic disorders in neurons, Schwann cells, and vascular endothelial cells play a major role in the development and progression of DN; however, its pathogenesis and development of disease-modifying therapies warrant further investigation. Herein, recent studies regarding the possible pathogenic factors of DN (polyol and other collateral glycolysis pathways, glycation, oxidative stress, Rho/Rho kinase signaling pathways, etc.) and therapeutic strategies targeting these factors are introduced.
{"title":"[Pathogenic Mechanisms of Diabetic Neuropathy].","authors":"Kazunori Sango, Hideji Yako, Shizuka Takaku, Naoko Niimi","doi":"10.11477/mf.1416202658","DOIUrl":"10.11477/mf.1416202658","url":null,"abstract":"<p><p>Diabetes stands as the predominant cause of peripheral neuropathy, and diabetic neuropathy (DN) is an early-onset and most frequent complication of diabetes. Distal symmetric polyneuropathy is the major form of DN; however, various patterns of nerve injury can manifest. Growing evidence suggests that hyperglycemia-related metabolic disorders in neurons, Schwann cells, and vascular endothelial cells play a major role in the development and progression of DN; however, its pathogenesis and development of disease-modifying therapies warrant further investigation. Herein, recent studies regarding the possible pathogenic factors of DN (polyol and other collateral glycolysis pathways, glycation, oxidative stress, Rho/Rho kinase signaling pathways, etc.) and therapeutic strategies targeting these factors are introduced.</p>","PeriodicalId":52507,"journal":{"name":"Brain and Nerve","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140917444","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Reportedly, patients with muscle-specific kinase (MuSK) antibody-positive myasthenia gravis (MG) account for approximately 3.0% of all patients with MG in Japan. Compared with patients who have acetylcholine receptor antibody-positive MG, those with MuSK antibody-positive MG show young-onset disease with female predominance, a low rate of ocular involvement (5.9%), and greater severity of dysphagia. The aforementioned types of MG are indistinguishable based on clinical symptoms and electrophysiological tests, and measurement of MuSK antibodies is essential for diagnosis. Thymectomy and complement inhibitors are not indicated for treatment, and acetylcholinesterase inhibitors, steroids, immunosuppressants, plasma exchange, intravenous immunoglobulin therapy, and neonatal Fc receptor inhibitors are used.
据报道,在日本,肌肉特异性激酶(MuSK)抗体阳性的重症肌无力患者约占重症肌无力患者总数的 3.0%。与乙酰胆碱受体抗体阳性的重症肌无力患者相比,肌肉特异性激酶(MuSK)抗体阳性的重症肌无力患者发病年轻,女性居多,眼部受累率低(5.9%),吞咽困难的严重程度更高。根据临床症状和电生理测试,上述类型的 MG 难以区分,因此测量 MuSK 抗体是诊断的关键。胸腺切除术和补体抑制剂不适用于治疗,可使用乙酰胆碱酯酶抑制剂、类固醇、免疫抑制剂、血浆置换、静脉注射免疫球蛋白疗法和新生儿 Fc 受体抑制剂。
{"title":"[Muscle-Specific Receptor Tyrosine Kinase Antibody Positive Myasthenia Gravis].","authors":"Masakatsu Motomura, Hiroko Kitanosono, Shunsuke Yoshimura, Hirokazu Shiraishi","doi":"10.11477/mf.1416202652","DOIUrl":"10.11477/mf.1416202652","url":null,"abstract":"<p><p>Reportedly, patients with muscle-specific kinase (MuSK) antibody-positive myasthenia gravis (MG) account for approximately 3.0% of all patients with MG in Japan. Compared with patients who have acetylcholine receptor antibody-positive MG, those with MuSK antibody-positive MG show young-onset disease with female predominance, a low rate of ocular involvement (5.9%), and greater severity of dysphagia. The aforementioned types of MG are indistinguishable based on clinical symptoms and electrophysiological tests, and measurement of MuSK antibodies is essential for diagnosis. Thymectomy and complement inhibitors are not indicated for treatment, and acetylcholinesterase inhibitors, steroids, immunosuppressants, plasma exchange, intravenous immunoglobulin therapy, and neonatal Fc receptor inhibitors are used.</p>","PeriodicalId":52507,"journal":{"name":"Brain and Nerve","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140917440","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Sjögren's syndrome is often accompanied by various neurological complications, among which peripheral neuropathy is the most common. A variety of clinical phenotypes of peripheral neuropathy, including axonal polyneuropathy and sensory ataxic neuropathy are reported in the literature. We present an overview of the pathophysiology and differential diagnosis of each phenotype. Immunotherapy using corticosteroids and high-dose intravenous immunoglobulin therapy tends to elicit varied therapeutic responses depending on the peripheral neuropathy phenotype. We also discuss myositis, a possible complication of Sjögren's syndrome.
{"title":"[Peripheral Nerve and Muscle Disorders Associated with Sjögren's Syndrome].","authors":"Hiroya Kuwahara, Takanori Yokota","doi":"10.11477/mf.1416202648","DOIUrl":"10.11477/mf.1416202648","url":null,"abstract":"<p><p>Sjögren's syndrome is often accompanied by various neurological complications, among which peripheral neuropathy is the most common. A variety of clinical phenotypes of peripheral neuropathy, including axonal polyneuropathy and sensory ataxic neuropathy are reported in the literature. We present an overview of the pathophysiology and differential diagnosis of each phenotype. Immunotherapy using corticosteroids and high-dose intravenous immunoglobulin therapy tends to elicit varied therapeutic responses depending on the peripheral neuropathy phenotype. We also discuss myositis, a possible complication of Sjögren's syndrome.</p>","PeriodicalId":52507,"journal":{"name":"Brain and Nerve","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140917468","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Dementia is characterized by acquired cognitive dysfunction caused by various neurological disorders. Many neurological conditions can cause dementia, including neurodegenerative diseases, vascular disorders, infections, inflammation, demyelination, intoxication, metabolic disorders, tumors, and head trauma. Despite recent developments in biomarkers and imaging techniques, neuropathological examination is necessary for the final diagnosis. Moreover, approximately 11% of the patients with dementia have dual or triple pathological conditions. The coexistence of neurological diseases makes it difficult for neurologists to diagnose patients accurately. Degenerative diseases are characterized by neuronal loss with gliosis in distinct parts of the brain, the presence of neuronal or glial inclusions, and abnormal protein accumulation. Senile plaques and neurofibrillary tangles are neuropathological hallmarks of Alzheimer's disease. These findings are characterized by the presence of amyloid β protein (Aβ) and phosphorylated tau protein, respectively. Although vascular dementia is common, it may be difficult to identify the relationship between vascular lesions and cognitive impairment. The incidence of sporadic Aβ-type cerebral amyloid angiopathy (CAA) tends to increase with age and causes dementia due to vascular dysfunction and leukoencephalopathy. Furthermore, patients with CAA can develop inflammation. Clinical neurologists should possess a neuropathological perspective for the appropriate diagnosis and management of patients with dementia.
痴呆症的特征是由各种神经系统疾病引起的获得性认知功能障碍。许多神经系统疾病都可导致痴呆,包括神经退行性疾病、血管疾病、感染、炎症、脱髓鞘、中毒、代谢紊乱、肿瘤和头部创伤。尽管生物标志物和成像技术取得了最新进展,但神经病理学检查仍是最终诊断的必要条件。此外,约有 11% 的痴呆症患者有双重或三重病理状况。神经系统疾病的并存给神经科医生准确诊断患者带来了困难。退行性疾病的特征是大脑不同部位的神经元缺失和胶质细胞增生、神经元或胶质细胞内含物的存在以及蛋白质的异常堆积。老年斑和神经纤维缠结是阿尔茨海默病的神经病理学特征。这些结果分别以淀粉样 β 蛋白(Aβ)和磷酸化 tau 蛋白的存在为特征。虽然血管性痴呆很常见,但可能很难确定血管病变与认知障碍之间的关系。散发性Aβ型脑淀粉样血管病(CAA)的发病率往往随着年龄的增长而增加,并因血管功能障碍和白质脑病而导致痴呆。此外,CAA 患者还会出现炎症。临床神经科医生应从神经病理学的角度出发,对痴呆症患者进行适当的诊断和治疗。
{"title":"[Neuropathology of Disorders Leading to Dementia].","authors":"Kenji Sakai, Masahito Yamada","doi":"10.11477/mf.1416202610","DOIUrl":"https://doi.org/10.11477/mf.1416202610","url":null,"abstract":"<p><p>Dementia is characterized by acquired cognitive dysfunction caused by various neurological disorders. Many neurological conditions can cause dementia, including neurodegenerative diseases, vascular disorders, infections, inflammation, demyelination, intoxication, metabolic disorders, tumors, and head trauma. Despite recent developments in biomarkers and imaging techniques, neuropathological examination is necessary for the final diagnosis. Moreover, approximately 11% of the patients with dementia have dual or triple pathological conditions. The coexistence of neurological diseases makes it difficult for neurologists to diagnose patients accurately. Degenerative diseases are characterized by neuronal loss with gliosis in distinct parts of the brain, the presence of neuronal or glial inclusions, and abnormal protein accumulation. Senile plaques and neurofibrillary tangles are neuropathological hallmarks of Alzheimer's disease. These findings are characterized by the presence of amyloid β protein (Aβ) and phosphorylated tau protein, respectively. Although vascular dementia is common, it may be difficult to identify the relationship between vascular lesions and cognitive impairment. The incidence of sporadic Aβ-type cerebral amyloid angiopathy (CAA) tends to increase with age and causes dementia due to vascular dysfunction and leukoencephalopathy. Furthermore, patients with CAA can develop inflammation. Clinical neurologists should possess a neuropathological perspective for the appropriate diagnosis and management of patients with dementia.</p>","PeriodicalId":52507,"journal":{"name":"Brain and Nerve","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140868233","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
A definite diagnosis of neurodegenerative diseases is required for neuropathological examination during an autopsy. Each neurodegenerative disease has specific vulnerable regions and affected systems (system degeneration), and is typified by an accumulation of abnormal protein with the formation of characteristic morphological aggregates in the nerve and glial cells, called proteinopathy. The most common neurodegenerative diseases are tauopathy, such as progressive supranuclear palsy (PSP), corticobasal degeneration (CBD), and Pick's disease (PiD); α-synucleinopathy, including multiple system atrophy (MSA); and TAR DNA-binding protein of 43 kDa (TDP-43) proteinopathy, including amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD). PSP and CBD show characteristic tau-positive astrocytic inclusions known as tufted astrocytes and astrocytic plaques, respectively. PiD shows tau-positive neuronal inclusions termed Pick bodies. MSA is characterized by α-synuclein-positive oligodendroglial inclusions, called glial cytoplasmic inclusions. ALS- and FTLD-TDP show TDP-43-positive neuronal inclusions, such as skein-like and round inclusions. Huntington's disease shows polyglutamine-positive neuronal inclusions, and Creutzfeldt-Jakob disease shows diffuse deposition of granular prions in the neuropil. The atypical proteins in these diseases have abnormal conformational properties. A comprehensive comparison of the clinical findings and neuropathological observations, including neuroanatomy and images acquired during life, is important to improve the sensitivity of clinical diagnosis.
神经退行性疾病的明确诊断需要在尸检时进行神经病理学检查。每种神经退行性疾病都有特定的易感区域和受影响系统(系统变性),其典型特征是异常蛋白质在神经和神经胶质细胞中聚集,形成特征性的形态聚集体,称为蛋白质病。最常见的神经退行性疾病是牛磺酸蛋白病,如进行性核上性麻痹(PSP)、皮质基底变性(CBD)和皮克氏病(PiD);α-突触核蛋白病,包括多系统萎缩(MSA);以及 TAR DNA 结合蛋白 43 kDa(TDP-43)蛋白病,包括肌萎缩侧索硬化症(ALS)和额颞叶变性(FTLD)。PSP 和 CBD 表现出特征性的 tau 阳性星形胶质细胞包涵体,分别称为簇状星形胶质细胞和星形胶质细胞斑块。PiD显示tau阳性的神经元包涵体,称为Pick体。MSA的特征是α-突触核蛋白阳性少突胶质细胞包涵体,称为胶质细胞质包涵体。ALS和FTLD-TDP表现为TDP-43阳性神经元包涵体,如梭形包涵体和圆形包涵体。亨廷顿氏病(Huntington's disease)表现为多谷氨酰胺阳性神经元内含物,克雅氏病(Creutzfeldt-Jakob disease)则表现为颗粒状朊病毒在神经髓质中的弥漫沉积。这些疾病中的非典型蛋白质具有异常的构象特性。全面比较临床发现和神经病理学观察结果(包括神经解剖学和生前获得的图像)对于提高临床诊断的敏感性非常重要。
{"title":"[Neuropathology of the Neurodegenerative Diseases].","authors":"Yasushi Iwasaki","doi":"10.11477/mf.1416202611","DOIUrl":"https://doi.org/10.11477/mf.1416202611","url":null,"abstract":"<p><p>A definite diagnosis of neurodegenerative diseases is required for neuropathological examination during an autopsy. Each neurodegenerative disease has specific vulnerable regions and affected systems (system degeneration), and is typified by an accumulation of abnormal protein with the formation of characteristic morphological aggregates in the nerve and glial cells, called proteinopathy. The most common neurodegenerative diseases are tauopathy, such as progressive supranuclear palsy (PSP), corticobasal degeneration (CBD), and Pick's disease (PiD); α-synucleinopathy, including multiple system atrophy (MSA); and TAR DNA-binding protein of 43 kDa (TDP-43) proteinopathy, including amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD). PSP and CBD show characteristic tau-positive astrocytic inclusions known as tufted astrocytes and astrocytic plaques, respectively. PiD shows tau-positive neuronal inclusions termed Pick bodies. MSA is characterized by α-synuclein-positive oligodendroglial inclusions, called glial cytoplasmic inclusions. ALS- and FTLD-TDP show TDP-43-positive neuronal inclusions, such as skein-like and round inclusions. Huntington's disease shows polyglutamine-positive neuronal inclusions, and Creutzfeldt-Jakob disease shows diffuse deposition of granular prions in the neuropil. The atypical proteins in these diseases have abnormal conformational properties. A comprehensive comparison of the clinical findings and neuropathological observations, including neuroanatomy and images acquired during life, is important to improve the sensitivity of clinical diagnosis.</p>","PeriodicalId":52507,"journal":{"name":"Brain and Nerve","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140867188","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Amyloid fibril formation is a general property of proteins and peptides. It is a physicochemical phenomenon similar to crystallization, in which amyloid precursor proteins exceeding solubility precipitate through the breakdown of supersaturation. Using the ultrasonication-forced amyloid fibril inducer HANABI, we have discovered that serum albumin acts as an inhibitor in dialysis-related amyloidosis. Exploring the factors that induce or inhibit amyloid fibril formation using HANABI can lead to the development of early diagnosis and prevention methods for amyloidosis.
{"title":"[New Development in Amyloidosis Research Based on Supersaturation: Biological Factors to Induce/Inhibit the Amyloid Fibril Formation].","authors":"Keiichi Yamaguchi, Kichitaro Nakajima, Yuji Goto","doi":"10.11477/mf.1416202616","DOIUrl":"https://doi.org/10.11477/mf.1416202616","url":null,"abstract":"<p><p>Amyloid fibril formation is a general property of proteins and peptides. It is a physicochemical phenomenon similar to crystallization, in which amyloid precursor proteins exceeding solubility precipitate through the breakdown of supersaturation. Using the ultrasonication-forced amyloid fibril inducer HANABI, we have discovered that serum albumin acts as an inhibitor in dialysis-related amyloidosis. Exploring the factors that induce or inhibit amyloid fibril formation using HANABI can lead to the development of early diagnosis and prevention methods for amyloidosis.</p>","PeriodicalId":52507,"journal":{"name":"Brain and Nerve","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140873782","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}