The genetic and familial history of 180 Tunisian HD patients, five homozygous, were examined. The age of disease onset between the homozygous and heterozygous patients did not differ significantly. Patients with a large allele expansion were associated with an earlier age of onset, 30 years for homozygous and 33 years for heterozygous. Patients with smaller all were associated with a later age of onset, 62 years for homozygous and 74 years for heterozygous. The number of CAG repeats and age of disease onset was shown to be inversely correlated for homozygous patients.
“Huntington’s disease is a rare disease that exists all over the world,” said Prof. Joaquim Ferreira MD, PhD, University of Lisbon. “However, access to genetic diagnostic tests is not available in many parts of the world, including many African countries. This study carried out in a population of Tunisian patients reminds us not only of the need to make genetic diagnostic tests available everywhere, but also of the benefit of these countries being able to contribute with scientifically relevant data. In this study, it is presented the clinical and molecular features of HD patients with homozygous alleles, which is an additional contribution to understanding the relationship between the quantity of the mutated huntingtin and the disease phenomenology.”
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http://www.mdsabstracts.org – Reference #: 909
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