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Related Concept Videos

Huntington Disease l: Introduction01:21

Huntington Disease l: Introduction

68
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...
68

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Optimising mobility outcome measures in Huntington's disease.

Monica Busse1, Lori Quinn1, Hanan Khalil2

  • 1School of Healthcare Sciences, Cardiff University, Cardiff, UK.

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|July 27, 2014
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Summary

This study optimized mobility measures for Huntington's disease (HD). Shortened Berg Balance Scale (BBS) and Tinetti Mobility Test (TMT) effectively assess unique HD gait and balance impairments, aiding future clinical trials.

Keywords:
Huntington's Diseasefunctionmobilityoutcome measures

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Area of Science:

  • Neurology
  • Movement Disorders
  • Clinical Assessment

Background:

  • Existing mobility measures for Huntington's disease (HD) were often developed for other neurological conditions.
  • This limits their specificity and effectiveness in capturing HD-related functional impairments.

Purpose of the Study:

  • To evaluate individual item performance of common mobility scales in HD.
  • To optimize these scales for better application in Huntington's disease populations.

Main Methods:

  • Utilized data from 75 individuals with HD (pre-manifest and manifest).
  • Assessed participants using multiple mobility tests including the Six-Minute Walk Test, Timed "Up & Go" Test (TUG), Berg Balance Scale (BBS), and Tinetti Mobility Test (TMT).
  • Employed regression analysis and item response theory for scale shortening and psychometric evaluation.

Main Results:

  • The Timed "Up & Go" Test (TUG), Berg Balance Scale (BBS), and Tinetti Mobility Test (TMT) demonstrated good disease-specific mobility measurement.
  • The Physical Performance Test (PPT) effectively measured functional performance.
  • Shortened versions of the BBS and TMT were developed, showing reliability and ability to discriminate between manifest and pre-manifest HD.

Conclusions:

  • The Physical Performance Test (PPT) is suitable for general function assessment in HD.
  • Shortened BBS and TMT scales accurately capture unique gait and balance deficits in HD.
  • These optimized scales, along with TUG, are valuable for future Huntington's disease clinical trials.