Huntington’s disease (HD) is a neurodegenerative disease caused by a single genetic mutation. Neurovascular abnormalities have been implicated in the pathophysiology of HD. Here, dynamic responses in BOLD, cerebral-blood-flow (CBF) and -volume (CBV) during visual stimulation were measured using 3D-TRiple-acquisition-after-Inversion-Preparation (3D-TRIP) MRI in premanifest HD patients and healthy controls, from which cerebral-metabolic-rate-of-oxygen (CMRO2) response was estimated. Decreased ΔCMRO2 and increased ΔCBV were observed in HD patients compared to controls, which correlated with genetic measures. The results suggested potential value of ΔCMRO2 as a biomarker for HD, and may shed light on the pathophysiology in HD in terms of mitochondrial deficiency.
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