Progressive lenticular degeneration: a familial nervous disease associated with cirrhosis of the liver together with an experimental research into the anatomy and physiology of the lenticular nucleus

Abstract

The first part contains a full and detailed account of what is practically a new nervous disease, to which, for reasons which will hereinafter become evident, I propose to give the name of PROGRESSIVE LENTICULAR DEGENERATION. This disease is familial, in the sense that it may attack more than one member of a family, but it is not hereditary: it may also occur sporadically. It always occurs in young people, either in an acute or a chronic form. As far as my present knowledge goes it is invariably progressive end fatal, its duration ranging from six months or a year to as long as five or six years, or possibly longer. The clinical symptoms form a complex which, once the physician is familiar with it, can be readily recognised, and which is of the greatest interest and importance, constituting as it does what I consider to be e practically pure corpus striatum syndrome. In a word, we have bilateral tremor of both upper and lower extremities and sometimes also of the head and trunk, a tremor which is rhythmical usually, but occasionally irregular, and which in creases with volitional movement: we find pronounced spasticity of the limbs and of the face, the latter being usually set in a spastic smile -- as my illustrations will show -- and in the later stages contracture develops: there is great dysphagie end dysartbria, the latter eventually degenerating into the most complete anarthria: there is spasmodic laughing (rire spesmodique) and emotionalism. As a result of the extraordinary degree of stiffness of the musculature there is considerable disturbance of equilibrium. We find, however, little or no true paresis or paralysis, in as much as most, if not all, ordinary movements can be executed, though it may be slowly and feebly. In some cases certain mental symptoms, of a transitory nature, manifest themselves, and their significance will be duly discussed. In spite of the great degree of motor weakness and helplessness, the abdominal reflexes are conserved and a double flexor response is obtained. In other words, we have in this affection, where it occurs in a. pure and uncomplicated form, an EXTRA-PYRAMIDAL MOTOR DISEASE, the importance of which is apparent not only because of its rarity, but also by reason of the light it sheds on such diseases (to specify only one) as paralysis agitens.In this Thesis I shall describe three cases of the affection which I have personally observed and diagnosed, and in each of which I have made a post-mortem examination.The first case (S.P.) came: under my observation in 1906, and died on July 28, 1908. At the autopsy. I found what I had diagnosed during life -- as far as I am aware the first time the disease has ever been diagnosed during the lifetime of the patient -- viz. bilateral degeneration of the lenticular nucleus, coupled with cirrhosis of the liver.The second case (D.P.) came under my observation in 1908, and died on March 3, 1907. In her case cirrhosis of the liver and a slighter degree of lenticular change were discovered.The third case (E.P.). a brother of the above, came under my observation in 1907. As he went to live in Switzerland. I paid a visit to him in Spring 1910, and made an exhaustive examination. On September 20, 1910 he died, near Lausanne, and I went out again to perform the autopsy. I brought all the material home, and in his case also I found bilateral lenticular degeneration, coupled with hepatic cirrhosis.The accompanying Index will explain the plan of the Thesis, and the order in which the material is handled.The following recapitulation, however, will serve for a bird's eye view of the field. An historical introduction, gives an account, in chronological order, of the six previously recorded cases, and this is followed by a clinical and pathological, description of my own- cases. With these as a basis, we proceed to a comprehensive study of the disease and of its problems. Results and conclusions are summarised. The vexed question of the functions of the basal ganglia is fully discussed, and the new light thrown on it by my cases is indicated. Analogies with other nervous diseases are drawn. Experimental evidence from personal observations is described in full, A concise and complete sketch of the disease is supplied. In an appendix previously recorded cases are givers in detail. Final conclusions are stated.