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Academia Mexicana de Neurología, A.C.

2018, Number 5

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Rev Mex Neuroci 2018; 19 (5)

Clinical, genetic and molecular characteristics of Huntington’s disease in Costa Rican patients: experience of 14 years of molecular diagnosis

Vásquez-Cerdas M, Morales-Montero F, Cuenca-Berger P

Language: Spanish
References: 40
Page: 9-18
PDF size: 356.74 Kb.


ABSTRACT

Objective: The aim is to present a descriptive and updated summary of the results of clinical and genetic studies of Huntington’s disease in Costa Rica, carried out since 2004. Methods: Molecular diagnosis was carried out in patients with clinical diagnosis or suspect of Huntington’s disease, and their asymptomatic relatives at 50% risk. Patients received genetic counseling. Results: In 2004 the molecular diagnosis of Huntington’s disease in Health Research Institute was implemented, because before 2004 only clinical diagnosis was done. From 2004 to date, the molecular diagnosis was made to 135 people. Of these individuals, 56 had a clinical or suspected diagnosis of Huntington. However, the mutation was found only in 33 of these patients (mutation carriers). The remaining 79 people are relatives at risk and of these, only 22 people were found to be carriers of the mutation (asymptomatic at the moment of sampling). Thus, since the molecular diagnosis was implemented, we have identified 55 people with the mutation; 35 women (64%) and 20 men (36%). Clinical and molecular genetic characteristics of Costa Rican Huntington’s disease patients are similar to other populations. Conclusions: The molecular diagnosis can prevent the occurrence and recurrence of Huntington’s disease. There are other diseases similar to Huntington’s disease, therefore, molecular diagnosis is a helpful tool in order to establish the proper clinical diagnosis. Accordingly to our experience, presymptomatic testing fully addresses the following individual’s expectancies: uncertainty relief, knowledge of the risk of transmitting the disease to their children and health care planning in the coming years.


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