Progressive Iron Accumulation In Huntington Disease Basal Ganglia: A Longitudinal Study

Background There is neuropathological evidence of iron accumulation in basal ganglia associated with the striatal volume loss in Huntington disease (HD). T2*-weighted imaging is a useful measure to study iron distribution in the brain since magnetic susceptibility maps correlate with chemically-determined iron concentration. Increased iron levels in the caudate, putamen and globus pallidus have been shown in HD patients and presymptomatic subjects. However, none study to date has approached the longitudinal progression of iron content in basal ganglia in the different clinical stages. Aims To longitudinally explore the iron abnormalities in basal ganglia in HD clinical subgroups. Methods Forty-two CAG mutation carriers underwent T2* relaxometry (multiecho EPI sequence) and 3D T1-weighted imaging (MDEFT sequence) twice on a 3T Siemens scanner. Subjects were classified as: 13 presymptomatic subjects (PreHD; UHDRS motor score