Basal ganglia alterations and brain atrophy in Huntington's disease depicted by transcranial real time sonography

Objectives and methods-Transcranial real time sonography (TCS) was applied to 49 patients with Huntington's disease and 39 control subjects to visuali se alterations in the echotexture of the basal ganglia. For comparison T1 w eighted, T2 weighted, and fast spin echo MRI was performed in 12 patients w ith Huntington's disease with and in nine patients without alterations of t he basal ganglia echotexture as detected by TCS and T1 weighted, T2 weighte d, and fast spin echo MRI. Furthermore, the widths of the frontal horns, th ird ventricle, and the lateral ventricles were depicted in TCS examinations and correlations examined with corresponding CT slices. Results-Eighteen out of 45 (40%) of the patients with Huntington's disease with adequate insonation conditions showed hyperechogenic lesions of at lea st one basal ganglia region. In 12 patients TCS depicted hyperechogenic les ions of the substantia nigra; in six patients the head of the caudate nucle us was affected. The lentiform nucleus (n=3) and the thalamus (n=0) were le ss often affected or spared. Hyperechogenic lesions were significantly more frequent in patients with Huntington's disease than in 39 control subjects , who had alterations of the echotexture in 12.8% (4/39) of the examination s. The number of CAG repeats and the clinical status correlated with the id entification of hyperechogenic lesions of the substantia nigra (p<0.01). Hy perechogenic lesions of the caudate nucleus were associated with an increas ed signal intensity in T2 weighted MR images (p<0.05). All TCS parameters i ndicating brain atrophy correlated with CT findings (p<0.0001). Conclusions-TCS detects primarily abnormalities of the caudate nucleus and substantia nigra in Huntington's disease. These changes in the echotexture may represent degenerative changes in the bastal ganglia matrix and are par tially associated with CAG repeat expansion and the severity of clinical fi ndings.