Detection of Huntington’s disease decades before diagnosis: the Predict-HD study
2008

Detecting Huntington’s Disease Early: The Predict-HD Study

Sample size: 438 publication 10 minutes Evidence: high

Author Information

Author(s): Paulsen J S, Langbehn D R, Stout J C, Aylward E, Ross C A, Nance M, Guttman M, Johnson S, MacDonald M, Beglinger L J, Duff K, Kayson E, Biglan K, Shoulson I, Oakes D, Hayden M

Primary Institution: University of Iowa, The Roy J and Lucille A Carver College of Medicine

Hypothesis

Can genetic, neurobiological, and clinical markers predict the early progression of Huntington’s disease before traditional diagnosis?

Conclusion

The study suggests that detectable changes in Huntington’s disease can begin one to two decades before clinical diagnosis.

Supporting Evidence

  • Detectable changes in Huntington’s disease can begin one to two decades before clinical diagnosis.
  • Participants were positive for the HD gene mutation but did not yet meet diagnostic criteria for HD.
  • Motor, cognitive, and imaging measures were used to model the predictability of disease onset.
  • Findings suggest that cognitive and sensory dysfunction cannot be solely explained by emerging motor signs.

Takeaway

Scientists found that signs of Huntington’s disease can show up many years before doctors can officially say someone has it.

Methodology

The study analyzed baseline data from 438 participants with the HD gene mutation who did not yet meet diagnostic criteria for HD.

Potential Biases

Potential bias due to the self-reported nature of participant demographics and the exclusion of symptomatic individuals.

Limitations

The study's cross-sectional nature requires longitudinal validation to confirm findings.

Participant Demographics

Participants were primarily Caucasian (96%), right-handed (89%), married (70%), employed (77%), and had an average age of 42.1 years.

Statistical Information

P-Value

<0.0001

Statistical Significance

p<0.0001

Digital Object Identifier (DOI)

10.1136/jnnp.2007.128728

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