Genetic and social aspects of Huntington's chorea

Abstract

The thesis is concerned with the investigation of Huntington's chorea in South East Scotland. It outlines the difficulties encountered in such an investigation and provides a history of the study of heredity to facilitate an understanding of problems concerning the inheritance of the disease.A detailed description of the history of the study of the condition is given in addition to current theories on its pathology, pathophysiology, and inheritance.The method of ascertainment of cases, of the formulation of an approach to, and the interviewing of, affected individuals, their spouses, and persons at risk of the condition, is described. Tables are provided of the sources of ascertainment of cases and their yield, on hospitalisation of choreics and clinical features of illness, on reproductive performance of choreics and controls, and on education and occupation of choreics and individuals not at risk of developing the disease.Discussion is undertaken on the relative under-reporting of cases and possible reasons for this. Difficulties in diagnosis are considered and case histories provided to illustrate how misdiagnosis can occur. Suggestions are made as to how diagnosis may be improved and the nature and source of the information on the disease held by those at risk or affected.An estimate of the prevalence of the condition is obtained and this is found to be higher than that of other studies. Reasons for this are discussed.There is detailed clinical description provided of the course of the disease and explanation attempted of the causes of some of the changes observed.Genetic aspects of the condition are examined. Its inheritance is found to be compatible with mendelian dominant inheritance. The relevance of some genetic concepts that have been used in study of the condition is evaluated.Social aspects of the condition are discussed in terms of their influence on the course of the illness and also the social problems it engenders. The latter are considered from the standpoint of the choreic, the spouse, the children and the medical practitioner. Suggestions are made as to how the management of the disease can be improved and the possibility is raised of the formation of an association for those interested or involved with the condition.