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Psychosis: Pathophysiology of Schizophrenia and Other Psychotic Disorders01:27

Psychosis: Pathophysiology of Schizophrenia and Other Psychotic Disorders

Schizophrenia is a neurodevelopmental disorder whose origins are rooted in complex genetic components. Despite our burgeoning understanding, the pathophysiology of this disorder remains incompletely deciphered.
Researchers have identified genetic factors that increase susceptibility to schizophrenia, underscoring the intricate interplay between genetics and environment in disease development. At the core of schizophrenia's pathophysiology is excessive dopaminergic neurotransmission within the...
Parkinson's Disease: Overview01:15

Parkinson's Disease: Overview

Neurodegenerative disorders are progressive diseases that cause irreversible damage and loss to neurons in specific brain areas. Examples of these disorders include Parkinson's disease, Alzheimer's disease, Multiple Sclerosis (MS), and Amyotrophic Lateral Sclerosis (ALS). These disorders share characteristics such as proteinopathies, selective neuronal vulnerability, and a complex interplay between genetic and environmental factors. The primary therapeutic goal for these conditions is to...
Alzheimer Disease l: Introduction01:29

Alzheimer Disease l: Introduction

Alzheimer disease is a chronic, progressive, and irreversible neurodegenerative disorder and the most common cause of dementia in older adults. It leads to gradual neuronal loss, causing cognitive decline, behavioral changes, and loss of functional independence.Risk Factors and EtiologyThe disease is multifactorial. Age is the strongest risk factor, with prevalence doubling every 5 years after age 65. Genetic factors include mutations in genes such as APP, PSEN1, and PSEN2, which are associated...
Alzheimer Disease ll: Pathophysiology01:23

Alzheimer Disease ll: Pathophysiology

Alzheimer disease involves structural changes in the brain that begin long before symptoms appear. The most distinctive features are extracellular neuritic plaques and intracellular neurofibrillary tangles.Neuritic plaques form in the cerebral cortex and around blood vessels. These plaques contain a dense core of beta-amyloid (Aβ)—a toxic protein fragment that clumps outside neurons. The core is surrounded by damaged neuronal extensions, as well as reactive astrocytes and microglia. Abnormal...
Parkinson Disease ll: Pathophysiology01:24

Parkinson Disease ll: Pathophysiology

Parkinson disease (PD) is a progressive neurodegenerative disorder primarily affecting movement, with additional non-motor features. Its pathophysiology involves complex interactions among genetic susceptibility, environmental exposures, and cellular dysfunction, including dopaminergic neuron loss, protein aggregation, and mitochondrial impairment.Selective NeurodegenerationA key feature is the degeneration of dopaminergic neurons in the substantia nigra pars compacta, leading to reduced...
Huntington Disease l: Introduction01:21

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Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...

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Updated: Jul 7, 2026

Immunohistochemical Visualization of Hippocampal Neuron Activity After Spatial Learning in a Mouse Model of Neurodevelopmental Disorders
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Immunohistochemical Visualization of Hippocampal Neuron Activity After Spatial Learning in a Mouse Model of Neurodevelopmental Disorders

Published on: May 12, 2015

从神经发育的角度探索亨廷顿病.

Chunhui Huang1, Xiao Zheng1, Wei Li1

  • 1The Sixth Affiliated Hospital of Jinan University, Dongguan, 523710, China; State Key Laboratory of Bioactive Molecules and Druggability Assessment, Guangdong Basic Research Center of Excellence for Natural Bioactive Molecules and Discovery of Innovative Drugs, Guangdong Provincial Key Laboratory of Non-human Primate Research, Guangdong-Hong Kong-Macau Institute of CNS Regeneration, Jinan University, Guangzhou, 510632, China; Stomatological Hospital, School of Stomatology, Southern Medical University, Guangzhou, 510280, China.

International journal of biological sciences
|January 29, 2026
PubMed
概括

亨廷顿病 (HD) 可能源于发育问题,而不仅仅是神经元死亡. 在神经发育过程中准突变亨廷丁 (HTT) 为这种遗传性神经退行性疾病提供了新的治疗途径.

关键词:
HTT HTT 这样就好了.亨廷顿病就是亨廷顿病.动物模型动物模型大脑有机体 - - 大脑有机体早期干预是早期的干预.mHTT 的意思是神经发育的神经发育

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Whole-brain Segmentation and Change-point Analysis of Anatomical Brain MRI—Application in Premanifest Huntington's Disease
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Whole-brain Segmentation and Change-point Analysis of Anatomical Brain MRI—Application in Premanifest Huntington's Disease

Published on: June 9, 2018

Efficient and Scalable Production of Full-length Human Huntingtin Variants in Mammalian Cells using a Transient Expression System
10:52

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Published on: December 10, 2021

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Last Updated: Jul 7, 2026

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07:43

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Published on: May 12, 2015

Whole-brain Segmentation and Change-point Analysis of Anatomical Brain MRI—Application in Premanifest Huntington's Disease
09:06

Whole-brain Segmentation and Change-point Analysis of Anatomical Brain MRI—Application in Premanifest Huntington's Disease

Published on: June 9, 2018

Efficient and Scalable Production of Full-length Human Huntingtin Variants in Mammalian Cells using a Transient Expression System
10:52

Efficient and Scalable Production of Full-length Human Huntingtin Variants in Mammalian Cells using a Transient Expression System

Published on: December 10, 2021

科学领域:

  • 神经科学是一个神经科学.
  • 遗传学 是一个遗传学.
  • 发展生物学 发展生物学

背景情况:

  • 亨廷顿病 (HD) 是一种遗传性神经退行性疾病,由亨廷丁 (HTT) 基因的突变引起.
  • 传统的HD看法侧重于突变的亨廷丁 (mHTT) 导致神经元死亡.
  • 新出现的证据表明,mHTT对神经发育的影响为HD病变发生提供了另一种观点.

研究的目的:

  • 审查HTT在神经发育中的作用.
  • 通过各种模型总结mHTT对神经发育的影响.
  • 提出针对HD早期发育干预的新型治疗策略.

主要方法:

  • 文献综述综合了有关疾病发展和发病的当前知识.
  • 分析各种模型的研究结果,研究mHTT对神经发育的影响.
  • 探索神经发育异常和HD中神经退行过程之间的联系.

主要成果:

  • 亨廷丁蛋白 (HTT) 对于正常的神经发育至关重要.
  • 突变HTT (mHTT) 显著破坏神经发育过程.
  • 不同的模型揭示了mHTT对发育神经系统的各种影响.

结论:

  • 重新考虑HD作为神经发育障碍,打开了新的治疗可能性.
  • 在发育过程中的早期干预可能会改变HD的进展.
  • 了解神经发育缺陷是解决疾病发病的关键.