The featured paper is ‘Familial Psychiatric Presentation of Huntington’s Disease’ by Lovestone and colleagues and freely available here. In this paper the authors report a family, several members of which have either established or presumed Huntington’s Disease.
(Professor Metwally has a very good site on neurology here and has two videos on YouTube showing choreiform and ballismus movements.
A description of a family pedigree as presented here can effectively be thought of as a case series where all members are immediate family members. As a case series this study would have a number of limitations including selection bias, lack of operationalised psychometric outcome measures, occasional use of second person accounts for the history, a heterogenous approach to data collection and the retrospective nature of material. Nevertheless despite all of this the study is rich in content. We see that two male members of the family developed psychosis – one involving auditory hallucinations and the other what appears to be a possible somatic hallucination (although it is difficult to tell). Two of the female members develop depression. Also SPECT data is available on one person and shows frontal hypoperfusion before any other evidence of illness is identified. Here we can with this dataset start to generate hypotheses which is where it starts to get really interesting. Generating some of these hypotheses does of course start on the shakiest of foundations. For instance, can we say that during the prodromal phase that males may develop perceptual abnormalities and females may develop disturbances of mood. Such a hypothesis would need to be tested in a larger study or alternatively a literature search may identify relevant data. Another hypothesis that could be tested is whether SPECT frontal hypoperfusion deficits are a surrogate marker for the prodromal phase of the illness and whether there is a correlation with psychosis or affective disorders. The authors are understandably cautious and cover all bases with their hypotheses which includes the possibility of the psychosis in family members resulting from a confounder for instance in linkage disequilibrium.
The authors have produced an interesting paper containing various types of data for hypothesis generation for testing in studies with relevant methodology.
Steps To Treatment (STT)
STT = Steps To Treatment. An estimate of the number of steps between the results and translation into treatment. This is an opinion.
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