Wilson Disease

WILSON DISEASE (Samuel Wilson; more correctly Wilson), "progressive lenticular degeneration," a disease of the extrapyramidal system, first in 1912 identified as a separate form by Wilson, who also discovered for the first time the anatomical changes corresponding to the disease. The disease occurs in young people, often from the same family, but it is neither congenital nor inherited. Beyond such general etiological characteristics given by Wilson himself 16 years ago, nothing certain is known about the cause and origin of the disease. Wilson describes the changes he discovered as follows: "The damage consists of bilateral symmetrical degeneration of the putamen and, to a lesser degree, the globus pallidus (see table, fig. 3); various degrees of this degeneration are found—from discoloration and porosity of the nucleus, from shriveling and atrophy to complete degeneration with cavity formation". Wilson emphasizes the involvement of the liver and spleen in the disease: the liver is diminished, dense and nodular; upon microscopic examination, cirrhosis is found, more often of the usual atrophic type; the atypical structure of the liver lobules, the arrangement of vessels, particularly the central veins, the abundance of regeneration islands, etc., are striking. The spleen is most often enlarged. The changes (see table, fig. 2) in Wilson's disease show many similarities to the changes found in Westphal-Strümpel pseudosclerosis (especially according to Spielmeyer's work), up to the characteristic liver damage common to both diseases; thus, there are every grounds for combining both forms into one nosological group. The disease manifests itself, mainly, as hyperkinesia in the form of rhythmic tremor (4-6 times per second), already present at rest, sometimes intensifying with movements (always intensifying with excitement) and disappearing during sleep. To the tremor may be added athetoid and choreiform movements (see table; fig. 1). A typical feature of extrapyramidal lesions is noted—the rigidity of agonists and antagonists, more or less uniform in different phases of passive movements. Along with rigidity, poverty of movement and amimia are typical, resembling those in paralysis agitans or parkinsonism. In addition, bulbar speech, swallowing disorders, salivation, increased emotional excitability, affectivity, and changes in the liver and spleen are observed. A number of organic symptoms usually allow one to easily exclude the assumption of a functional neurosis (specific changes in tone, bulbar disorders, the peculiar character of hyperkinesia, etc.). The disease differs from disseminated sclerosis by the absence of nystagmus, changes in the fundus of the eye, disturbances of abdominal reflexes, B.M.E. t. V., the absence of true pyramidal symptoms, and the presence of extrapyramidal rigidity and changes in liver function. It is much more difficult to distinguish W. disease from other extrapyramidal diseases, especially from postencephalitic parkinsonism. However, even here, anamnestic data, as well as the character of the hyperkinesia and disturbance of liver function, usually allow the diagnosis to be made. The differential diagnosis with pseudosclerosis is difficult and in some cases cannot be made (see Westphal-Strümpel disease).-The course of the disease is acute in some cases, with elevated temperature, rapidly developing cachexia, and rapidly fatal outcome; in other cases, it is slowly progressive. The prognosis in terms of cure is always hopeless. Therapy has so far been fruitless. Lit.: Kinnier-Wilson S. A., Progressive Lenticular Degeneration (Handbuch der Neurologie, hrsg. von M. Lewandowsky, B. V, B., 1914); Geissmar, Ober die Leveranderungen bei Wilsons Krankheit, Frankfurter Zeitschrift, B. XVIII, H. 2, 1916; Lotmar E., Die Stammganglien u. die extrapyramidalmotorischen Syndrome, Monographien aus dem Gesamtgebiete der Neurologie und Psychiatrie, B. XLVIII, B., 1926; Jakob A., Die extrapyramidalen Erkrankungen, B., 1926. I. Filimonov.