Is a motor criterion essential for the diagnosis of clinical huntington disease?

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Clement T Loy1, Elizabeth A McCusker2

  • 1Huntington Disease Service, Westmead Hospital, Sydney, Australia; School of Public Health, the University of Sydney, Sydney, Australia.

Plos Currents
|July 22, 2014
PubMed

Insights

Current Huntington Disease (HD) diagnosis relies on motor symptoms, but cognitive changes appear earlier. New, flexible criteria are needed for clinical HD diagnosis, considering non-motor signs for better patient care.

Area of Science:

  • Neurodegenerative Diseases
  • Clinical Neurology
  • Genetic Disorders

Background:

  • Established guidelines exist for laboratory/genetic diagnosis of Huntington Disease (HD) since 1998.
  • No formal guidelines currently exist for the clinical diagnosis of Huntington Disease.
  • The informal 'Motor 4' criterion from the Unified Huntington Disease Rating Scale '99 is commonly used, requiring unequivocal motor signs.

Purpose of the Study:

  • To highlight the diagnostic challenges of clinical Huntington Disease (HD) in the absence of definitive motor signs.
  • To underscore the limitations of a motor-only diagnostic approach for HD, as evidenced by pre-manifest studies.
  • To advocate for the development of new, broader, and flexible criteria for clinical HD diagnosis.

Main Methods:

  • Review of recent studies, including PREDICT-HD, illustrating cognitive changes preceding motor diagnosis in pre-manifest Huntington Disease.
  • Analysis of case studies to identify subtleties in diagnosing clinical Huntington Disease without unequivocal motor signs.
  • Discussion on the need for flexible, rather than prescriptive, diagnostic criteria.

Main Results:

  • Cognitive changes can be detected decades before the onset of motor abnormalities indicative of Huntington Disease (HD).
  • The current motor-centric diagnostic approach may miss or delay the diagnosis of clinical HD in some individuals.
  • Case studies reveal complexities in diagnosing HD when motor symptoms are not yet unequivocally present.

Conclusions:

  • A motor-only diagnostic approach for Huntington Disease (HD) is insufficient, as cognitive and other non-motor symptoms precede motor deficits.
  • New, broader diagnostic criteria for clinical HD are necessary to improve early and accurate identification.
  • The formulation of new criteria requires extensive consultation with clinicians and affected families to ensure flexibility and clinical relevance.

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