Related Experiment Video

Updated: Jun 27, 2026

Fractionation for Resolution of Soluble and Insoluble Huntingtin Species
07:08

Fractionation for Resolution of Soluble and Insoluble Huntingtin Species

Published on: February 27, 2018

Neurocardiovascular pathology in pre-manifest and early-stage Huntington's disease

E Bellosta Diago1,2, J Pérez-Pérez3,4,5, S Santos Lasaosa1,2

  • 1Neurology Department, Hospital Clínico Universitario Lozano Blesa, Zaragoza, Spain.

European Journal of Neurology
|March 15, 2018
PubMed

Insights

Huntington's disease (HD) patients and pre-manifest carriers show increased cardiovascular risk and target-organ damage, even before symptoms appear. This highlights the need for early cardiovascular management in HD populations.

Area of Science:

  • Neurology
  • Cardiology
  • Genetics

Background:

  • Cardiovascular events are a primary cause of premature mortality in Huntington's disease (HD).
  • Early signs of dysautonomia and circadian rhythm disruption in HD impact cardiac health.
  • Investigating cardiovascular risks in HD mutation carriers is crucial.

Purpose of the Study:

  • To assess cardiovascular disease risk in Huntington's disease (HD) patients and pre-manifest mutation carriers.
  • To compare cardiovascular risk factors between HD mutation carriers and healthy controls.

Main Methods:

  • A prospective, cross-sectional study involving 38 HD mutation carriers (pre-manifest and early-stage) and 38 matched controls.
  • Collected clinical, epidemiological, and hematological vascular risk factors.
  • Utilized ambulatory blood-pressure monitoring and carotid intima-media thickness (CIMT) to assess autonomic function and target-organ damage.

Main Results:

  • A significantly higher proportion of HD patients (63.2%) were non-dippers compared to controls (23.7%).
  • Elevated CIMT values (≥75th percentile) were found in 46.7% of early-stage and 43.5% of pre-manifest HD patients, versus 0% in controls.
  • Nocturnal non-dipping strongly correlated with CIMT in HD patients, indicating target-organ damage.

Conclusions:

  • Pre-manifest Huntington's disease mutation carriers exhibit increased cardiovascular risk and target-organ damage.
  • These findings suggest the importance of early cardiovascular risk assessment and management in HD.
  • Further research with larger cohorts is warranted to confirm these early cardiovascular changes in HD.
Abstract

Keywords:
Huntington's diseaseautonomic dysfunctioncardiovascular riskshypothalamus

More Related Videos

Whole-brain Segmentation and Change-point Analysis of Anatomical Brain MRI—Application in Premanifest Huntington's Disease09:06

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 System10:52

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

Published on: December 10, 2021

Related Concept Videos

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...
Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
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 l: Introduction01:24

Parkinson Disease l: Introduction

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 which...
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

Huntington Disease l: Introduction

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,...