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[Hereditary ataxias in Cuba. Historical, epidemiological, clinical, electrophysiological and quantitative
L Velázquez-Pérez1, R García, F N Santos
1Clínica para la Investigación y Rehabilitación de las Ataxias Hereditarias (CIRAH), Holguín, Cuba. luis@ataxia.hlg.sld.cu
Objective:
This review has been designed to describe the main clinical, epidemiological, electrophysiological, molecular and quantitative neurological characteristics in SCA2.
Development:
The prevalence rate of patients with ataxia in Holguin province is 43 per 100,000 inhabitants. The prevalence of family members at risk of having this disorder is 159.33 per 100 thousand in this province. The main neurophysiological abnormality observed was reduction in the amplitudes of sensory potentials. These alterations are the expression of a predominantly axonal peripheral lesion with signs of myelin damage. Techniques of quantitative neurology were developed for evaluation of the main disorders of coordination such as asymmetry and adiadochokinesis. In Cuba 125 families have hereditary ataxia, 772 patients and 8 to 10,000 family members are at risk of developing this condition. Seventy percent of the patients with ataxia are concentrated in Holguin province. The most severely affected towns are Báguanos (a rate of 129.20 per 100,000 inhabitants), Holguin (71.85 per 100,000) and Cacocúm (69.83 per 100,000). These are the highest rates in the world.
Conclusions:
The commonest molecular form in Cuba is the SCA2, observed in 120 families. Clinically it is characterized by a cerebellar syndrome associated with disorders of eye movements and osteotendinous reflexes.