[Progressive Myoclonus Epilepsy: Diversity of Disorders and Key Points in Clinical Practice] [0.03%]
进行性肌阵挛癫痫：异质性疾病及临床要点
Maya Tojima,Katsuya Kobayashi,Haruhisa Inoue et al.
Maya Tojima et al.
Progressive myoclonic epilepsies (PMEs) are a group of disorders characterized by progressive (1)myoclonus, (2)myoclonic and generalized tonic-clonic seizures, (3)cerebellar symptoms, and (4)cognitive decline. PMEs encompass various genetic...
Kazuhiro Yamakawa
Kazuhiro Yamakawa
Studies on monozygotic twins, increased risk in children of affected parents, and the identification of numerous genes responsible for epilepsy and neurodevelopmental disorders, such as autism, intellectual disability, and schizophrenia, in...
[Central Nervous System Tumors: Hereditary Tumors and Key Points of Updated World Health Organization Classification] [0.03%]
中枢神经系统肿瘤：遗传性肿瘤及更新版世界卫生组织分类的重点内容
Masamichi Takahashi
Masamichi Takahashi
Conventionally, hereditary tumor syndromes have been identified on the basis of clinical features, including characteristic tumor types and family history. Therefore, it is important for clinicians to consider hereditary tumor syndromes and...
[Peripheral Nerve: Cause and Pathology of Inherited Peripheral Neuropathy] [0.03%]
周围神经遗传性周围神经病的病因和病理学
Akihiro Hashiguchi
Akihiro Hashiguchi
Inherited peripheral neuropathies (IPN) are classified as hereditary motor and sensory neuropathy (HMSN), hereditary motor neuropathy (HMN), or hereditary sensory and autonomic neuropathy (HSAN) based on clinical symptoms. Many IPN are acco...
[Hereditary Muscle Disorders] [0.03%]
[遗传性肌病]
Kazuma Sugie
Kazuma Sugie
Hereditary muscle diseases encompass various types of muscular dystrophies and myopathies, many of which are rare and difficult to treat. However, with advancements in research, we are entering a new era in which many hereditary muscle dise...
[Hereditary Leukoencephalopathy: Overview to Definition, Diagnosis and Treatment] [0.03%]
遗传性脑白质病：从定义到诊断及治疗概述
Shin Koide,Shoichiro Ando,Osamu Onodera
Shin Koide
Hereditary leukoencephalopathies represent a heterogeneous group of inherited disorders characterized by abnormalities in the white matter of the brain. Recent advances in neuroimaging and genetic analyses have deepened our understanding of...
[Neurological Peroxisomal Disorders with a Focus on Adrenoleukodystrophy] [0.03%]
以肾上腺脑白质营养不良为重点的神经过氧化物酶体病
Nobuyuki Shimozawa
Nobuyuki Shimozawa
Peroxisomal disorders include hereditary neurological diseases, such as adrenoleukodystrophy, peroxisome biogenesis disorders, and β-oxidation enzyme deficiencies. Early diagnosis of adrenoleukodystrophy is critical, as early hematopoietic...
[Inborn Error of Metabolism] [0.03%]
先天性代谢错误
Hiroshi Kobayashi
Hiroshi Kobayashi
Inborn errors of metabolism are single-gene disorders in which metabolic abnormalities involving amino acids, organic acids, fatty acids, glycolipids, complex carbohydrates, glycoproteins, and metals cause various neurological symptoms. Alt...
[Phenotypic Variability and Therapeutic Progress in Mitochondrial Disorders] [0.03%]
线粒体疾病的临床变异和治疗进展
Fumika Yamamoto,Hideaki Nishihara
Fumika Yamamoto
Mitochondrial diseases are hereditary disorders caused by abnormalities in nuclear or mitochondrial genes. These diseases primarily lead to a wide range of symptoms due to impaired ATP production. Even with the same genetic mutation, phenot...
Hiroaki Miyajima
Hiroaki Miyajima
Neurodegeneration with brain iron accumulation (NBIA) comprises a heterogeneous group of inherited neurodegenerative disorders collectively characterized by extrapyramidal movement disorders and abnormal iron accumulation in the nuclei of t...