Intracytoplasmic inclusion bodies of the thalamus and the substantia nigra,and Marinesco bodies in myotonic dystrophy: a quantitative morphological study

Summary Intracytoplasmic inclusion bodies of the thalamus and the substantia nigra, and Marinesco bodies have been studied in four patients with myotonic dystrophy (MyD), eight patients with other neurological diseases (control A), and eight patients without neurological diseases (control B). The percentages of the affected cells were calculated by dividing the number of neurons including intracytoplasmic inclusion bodies of the thalamus and the substantia nigra, and Marinesco bodies, by the total cell count in these respective regions. Statistical analyses were performed with regard to the frequency of these bodies by using Student'st test. There was a significantly higher incidence of intracytoplasmic inclusion bodies of the thalamus (13.2% versus 0.7%,P<0.001) and the substantia nigra (20.4% versus 2.7%,P<0.001), and Marinesco bodies (37.4% versus 4.1%,P<0.001) in patients with MyD than in controls A and B. From our observations, it is suggested that the presence with a high frequency, in combination, of these bodies is not an incidental finding but may have an intimate and important relationship with the pathogenesis of MyD, and may be a conspicuous and diagnostically important feature of MyD.Supported by Grant-in-Aid for Scientific Research from The Ministry of Education, Science and Culture