Selected health and lifestyle factors, cytosine-adenine-guanine status, and phenoconversion in Huntington's disease

Mov Disord. 2018 Mar;33(3):472-478. doi: 10.1002/mds.27239. Epub 2018 Jan 3.


Background: In Huntington's disease, 60% of the variance in onset age is not explained by the huntingtin gene mutation. Huntington's disease onset was earlier in caffeine users.

Objective: The objective of this study was to assess the relationship of lifestyle factors with motor phenoconversion among persons at risk for Huntington's disease.

Methods: The associations of motor phenoconversion and exposure to selected lifestyle and health factors were examined using Cox proportional hazards analyses adjusted for age, gender, and repeat length.

Results: Of 247 participants, 36 (14.6%) phenoconverted. Mean follow-up was 4.2 years. Greater caffeinated soda use was associated with an increased hazard of phenoconversion: moderate use hazard ratio 2.26 (95% confidence interval 0.59-8.71), high use hazard ratio 4.05 (95% confidence interval 1.18-13.96).

Conclusions: Huntington's disease onset was earlier among consumers of caffeinated soda, but not other caffeinated beverages. This finding may be spurious or not related to caffeine. © 2018 International Parkinson and Movement Disorder Society.

Keywords: CAG repeat; Huntington's disease; caffeine; environment; phenoconversion.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Adenine / metabolism*
  • Adult
  • Cytosine / metabolism*
  • Environment*
  • Female
  • Follow-Up Studies
  • Guanine / metabolism*
  • Humans
  • Huntingtin Protein / genetics
  • Huntington Disease* / metabolism
  • Huntington Disease* / physiopathology
  • Huntington Disease* / psychology
  • Life Style*
  • Male
  • Middle Aged
  • Motor Activity / genetics
  • Motor Activity / physiology
  • Proportional Hazards Models
  • Trinucleotide Repeat Expansion / genetics


  • HTT protein, human
  • Huntingtin Protein
  • Guanine
  • Cytosine
  • Adenine