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.
