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Correlations between molecular and clinical data in Huntington's disease and implications for predictive testing

Published online by Cambridge University Press:  18 September 2015

S. Claes
Affiliation:
Centrum voor Menselijke Erfelijkheid, K.U. Leuven
M. Decruyenaere
Affiliation:
Centrum voor Menselijke Erfelijkheid, K.U. Leuven
R. Dom
Affiliation:
Departement Neurologie, K.U. Leuven
M. Malfroid
Affiliation:
Universitair Psychiatrisch Centrum, St. Camillus, Bierbeek
G. Evers-Kiebooms
Affiliation:
Centrum voor Menselijke Erfelijkheid, K.U. Leuven
F. Baro
Affiliation:
Universitair Psychiatrisch Centrum, St. Camillus, Bierbeek
J. Godderis
Affiliation:
Departement Psychiatrie, K.U. Leuven
J-P. Fryns
Affiliation:
Centrum voor Menselijke Erfelijkheid, K.U. Leuven
J-J. Cassiman
Affiliation:
Centrum voor Menselijke Erfelijkheid, K.U. Leuven

Summary

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.

Type
Research Article
Copyright
Copyright © Scandinavian College of Neuropsychopharmacology 1995

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