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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,...
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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...
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Related Experiment Video

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A Fine Motor Task to Study Joint Kinematics in a Preclinical Model of Neurodegenerative Disease
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Earliest functional declines in Huntington disease.

Leigh J Beglinger1, Justin J F O'Rourke, Chiachi Wang

  • 1Department of Psychiatry, The University of Iowa, Iowa City, IA, USA.

Psychiatry Research
|May 18, 2010
PubMed
Summary

The Unified Huntington's Disease Rating Scale (UHDRS) identified early functional declines in individuals who later developed Huntington's disease (HD). Occupational, financial, and driving abilities were commonly affected before diagnosis.

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Last Updated: Jun 13, 2026

A Fine Motor Task to Study Joint Kinematics in a Preclinical Model of Neurodegenerative Disease
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Area of Science:

  • Neurology
  • Clinical Assessment
  • Neurodegenerative Diseases

Background:

  • Huntington's disease (HD) is a progressive neurodegenerative disorder.
  • Early functional assessment is crucial for monitoring disease progression and planning interventions.
  • The Unified Huntington's Disease Rating Scale (UHDRS) is the gold standard for functional assessment in HD.

Purpose of the Study:

  • To evaluate the UHDRS's ability to detect early functional decline in pre-manifest HD.
  • To identify specific skill domains that weaken first in the course of HD.
  • To determine clinical correlates associated with early functional deterioration.

Main Methods:

  • Analysis of 265 participants from Huntington Study Group clinics who were at-risk for HD but not diagnosed at baseline.
  • Utilized UHDRS Total Functional Capacity (TFC) and Functional Assessment Scale (FAS) scores.
  • Longitudinal assessment of participants who later phenoconverted to manifest HD.

Main Results:

  • Occupational decline was the most frequent early functional loss (65.1% TFC, 55.6% FAS).
  • Inability to manage finances independently (49.2% TFC, 35.1% FAS) and drive safely (33.5% FAS) were also common.
  • Motor, cognitive, and depressive symptoms significantly predicted functional decline.

Conclusions:

  • The UHDRS effectively captures early functional losses in individuals with HD prior to formal diagnosis.
  • Work performance, financial management, and driving safety are key areas for expanded assessment and clinical monitoring.
  • Addressing these functional domains is vital for treatment planning in early-stage HD.