Decreased cerebral ATP in pre-motor manifest Huntington's disease: A pilot study.

BACKGROUND

Huntington's Disease (HD) is characterized by brain metabolic dysfunction, but no studies to date have directly measured cerebral ATP levels in patients with HD.

OBJECTIVE

To compare cerebral ATP between individuals with pre-motor-manifest HD (preHD) and healthy controls (HC).

METHODS

Cerebral ATP was quantified using 31Phosphorous Magnetic Resonance Spectroscopy (31P-MRS) at 7T in nine preHD subjects and nine HC subjects. Analysis of Covariance models were constructed to compare mean ATP signal (corrected by whole brain volume) between groups after adjusting for age and BMI.

RESULTS

PreHD participants exhibited significantly lower total ATP compared to HCs; furthermore, preHD subjects with higher clinical burden of disease had lower ATP levels. Amongst the preHD subjects, lower ATP levels were associated with worsening composite Unified Huntington's Disease Rating Scale scores.

CONCLUSIONS

Our findings highlight the potential of 31P-MRS to serve as a direct assay for metabolic dysfunction in HD.