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Related Concept Videos

Huntington Disease l: Introduction01:21

Huntington Disease l: Introduction

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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...
166
Parkinson Disease ll: Pathophysiology01:24

Parkinson Disease ll: Pathophysiology

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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...
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Neurodegenerative disorders, such as Parkinson's Disease (PD), involve the gradual and irreversible destruction of neurons in particular brain areas. These disorders exhibit standard features like proteinopathies, selective vulnerability of some neurons, and an interaction of intrinsic properties, genetics, and environmental influences in neural injury.
Parkinson's Disease is primarily a result of the loss of dopaminergic neurons in the substantia nigra pars compacta. The cornerstone of...
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Alzheimer's Disease (AD), a neurodegenerative disorder, is pathologically identified by amyloid plaques and neurofibrillary tangles composed of tau protein. AD pharmacotherapy aims to manage cognitive symptoms, delay disease progression, and treat behavioral symptoms. The treatment is primarily symptomatic and palliative, with no definitive disease-modifying therapy available. Cholinesterase inhibitors, including donepezil (Aricept), rivastigmine (Exelon), and galantamine (Razadyne), are...
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Parkinson's Disease: Overview01:15

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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...
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Parkinson Disease l: Introduction01:24

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Parkinson’s disease is a chronic, progressive neurodegenerative disorder that primarily affects movement. It is characterized by motor symptoms such as resting tremors, muscle rigidity, bradykinesia (slowness of movement), and postural instability. Patients may notice hand tremors at rest, stiffness during movement, or a shuffling gait. In addition to motor features, non-motor symptoms include sleep disturbances, mood and behavioral changes, constipation, and cognitive impairment, all of...
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Updated: May 5, 2026

Whole-brain Segmentation and Change-point Analysis of Anatomical Brain MRI—Application in Premanifest Huntington's Disease
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Huntington's disease: a multidisciplinary study.

P J Ruiz1, A Del Barrio, T Barroso

  • 1Departments of Neurology, Avda Reyes Católicos 2, Ciudad Universitaria, Madrid 28040, SpainGenetics, Fundación Jimenez Díaz, Avda Reyes Católicos 2, Ciudad Universitaria, Madrid 28040, Spain.

European Journal of Neurology
|November 29, 2013
PubMed
Summary
This summary is machine-generated.

Huntington's disease (HD) diagnosis is improved by genetic testing. CAG repeat expansion correlates with earlier onset and disease severity, impacting motor and cognitive functions.

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Area of Science:

  • Neurogenetics
  • Clinical Neurology

Background:

  • Huntington's disease (HD) presents with motor, cognitive, and psychiatric symptoms.
  • Recent identification of the HD gene enables direct diagnostic testing.
  • This facilitates a more precise approach to studying HD patients.

Purpose of the Study:

  • To conduct a clinical-genetic study on 45 Huntington's disease patients.
  • To investigate the relationship between genetic factors and clinical manifestations.
  • To analyze the progression of motor and cognitive decline in relation to disease stage.

Main Methods:

  • Molecular analysis of CAG repeat expansion in 39 HD patients.
  • Clinical assessment of motor function (akinesia, chorea) and cognitive function (MMSE, Rey, HVOT).
  • Correlation analysis between CAG repeat length, age at onset, parental influence, and functional disability stages.

Main Results:

  • All analyzed patients showed abnormal CAG repeat expansions (41-90 triplets, mean 50.8).
  • A strong inverse correlation was observed between CAG repeat length and age at onset.
  • Parental gender significantly influenced age at onset and triplet number.
  • Motor and cognitive functions (akinesia, chorea, MMSE, Rey scores) declined significantly with disease progression.
  • Hooper Visual Organization Test (HVOT) effectively distinguished early-stage HD patients from controls.
  • Functional disability correlated strongly with motor decline (akinesia, chorea) and moderately with cognitive decline (MMSE, Rey, HVOT).

Conclusions:

  • CAG repeat expansion is a key determinant of HD onset and progression.
  • Motor and cognitive impairments worsen progressively with disease severity.
  • The HVOT is a valuable tool for early HD detection.
  • Genetic analysis combined with clinical assessment provides a comprehensive understanding of HD.