Huntington's disease (HD) is an autosomal dominant disorder of the central nervous system, characterised by neurological, cognitive and psychiatric pathology. Recently the causative genetic defect was discovered. We present a retrospective study of 59 HD patients, investigating correlations between molecular and clinical data.
The correlation between CAG-repeatlength and age at onset is confirmed. No correlations between this biological marker and other clinical features are found (symptoms at onset, mode of progression of the disease).
The consequences of these findings for predictive testing are discussed. Furthermore, a short overview of the predictive testing procedure in the Center for Human Genetics in Leuven (Belgium) is given.