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Title: Correlations between triplet repeat expansion and clinical features in Huntington's disease
Authors: Claes, Stephan ×
Van Zand, K
Legius, Eric
Dom, René
Malfroid, M
Baro, Franz
Godderis, Jan
Cassiman, Jean-Jacques #
Issue Date: Aug-1995
Series Title: Archives of Neurology. vol:52 issue:8 pages:749-53
Abstract: OBJECTIVE: To investigate possible correlations between the length of the (CAG)n trinucleotide repeat in Hungtington's disease gene IT15 and clinical features (age at onset, symptoms at onset, and mode of progression) in Huntington's disease. DESIGN: In 59 patients with Huntington's disease, the expansion of the (CAG)n trinucleotide repeat was determined and clinical data were obtained retrospectively. SETTING: The Center for Human Genetics, affiliated with a university hospital. PATIENTS: All patients belonged to an initial group of 248 individuals tested in an indirect predictive testing procedure. RESULTS: A good correlation was found between the expansion of the (CAG)n trinucleotide repeat and the age at onset (r = -.71). No correlation was found between the repeat length of the normal allele and the age at onset. No correlations were found between repeat expansion and other clinical features, such as the nature of the symptoms at onset (neurologic, psychiatric/cognitive, or both) and the mode of progression. CONCLUSION: Factors that determine the nature of symptoms at onset and the mode of progression of Huntington's disease seem to be operating independently of the (CAG)n trinucleotide repeat in gene IT15.
ISSN: 0003-9942
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Human Mutations and Polymorphisms Section (-)
Research Group Psychiatry
Forensic Biomedical Sciences
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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