Familial dystonia in which atrophy of the putamen and caudate nuclei were detected by CT scan

As the site of lesion in dystonia musculorum deformans (DMD), many reports have pointed out changes at the putamen and caudate nuclei and regarded this region as the main site of lesion of the disease. However, cases without pathological abnormality at the basal ganglia have been also reported. Biochemically, reports pointing out abnormal catecholamine metabolism have been attracting attention of physicians. Recently, we have seen two sister cases with DMD of an autosomal recessive inheritance. CT scan revealed atrophy of the putamen and caudate nuclei in these cases. The putamen and caudate nuclei are presumed to play an important role as the site of lesion in this disease. Moreover, the presence of abnormal catecholamine metabolism, with a lowering of plasma dopamine-beta-hydroxylase and a reduction of dopamine metabolites in the cerebrospinal fluid is suggested. (author)