Autosomal dominant cerebellar ataxia, currently denominated Spinocerebellar ataxia (SCAs) represents a heterogeneous group of neurodegenerative disorders affecting the cerebellum and its connections. We describe clinical and molecular findings in sixteen patients originating from Malian families, who suffer from progressive cerebellar ataxia syndrome. Molecular analysis allows genetic profiles of spinocerebellar ataxia to be distinguished. In seven patients, SCA type 2 (CAG) mutation was expanded from 39 to 43 repeats. SCA type 7(CAG)mutation was confirmed in six patients .Mutations were expanded from 49 to 59 repeats. In three patients, SCA type 3 was diagnosed and CAG mutation was expanded to 73 repeats.Conclusions-Our data suggests that the most frequent types of SCA are SCA2 and SCA7. However, further studies are needed to confirm these preliminary results.

Introduction:The prevalence of hemoglobinopathies (HbC and HbS) is relatively high in West Africa, especially in Burkina Faso. The objectives of this study were to characterize the hematological parameters and to determine the genotypic and allelic frequencies of patients affected with hemoglobinopathies.Methods: Hemoglobin electrophoresis was carried out in a total of 7,789 patients attending Saint Camille Hospital of Ouagadougou during the period of study. Among them, hemogram was performed for 1014 patients. Results:The age of the study population ranged from 1 to 40 years, with a mean of 24.86 ± 12.69 years. The age group 16 to 35 were the most seen at medical center hospital and represented 3,035 out of 7,789 (38.96 %) having performed hemoglobin electrophoresis. The overall hemoglobin electrophoretic profiles revealed 223 SS, 718 SC, 2 SO-Arab, 2 AO-Arab, 3 AE, 152 CC, 799 AS, 1315 AC, and 4575 AA. The relative genotypic frequency was 58.73 % AA, 2.86 % SS and 9.22 % SC while the allelic frequencies were 0.7234 for HbA, 0.1500 for HbC, 0.1261 for HbS, 0.0002 for HbE and 0.0003 for HbO-Arab. The hemogram profiles of patients with major sickle cell syndrome (MSCS) revealed respectively for mean hemoglobin levels, number of red blood cells and mean corpuscular volume a values of 8.19 ± 1.39 g/dL ; 2.97 ± 0.73 10 12 /L ; 81.86 ± 12.82 fL in SS patients and 10.93 ± 1.68 g/dL ; 4.38 ± 0.77 10 12 /L ; 70.81 ± 7.11 fL in SC individuals. Conclusion:The results of the present study are in line with the previous one describing the high prevalence of HbC and HbS hemoglobinopathies in Burkina Faso. Indeed, the genotypic and allelic frequencies of patients with MSCS are increasing due to the accessibility of medical care for sickle cell patients. The study diagnoses for the first-time hemoglobin AE, AO-Arab and SO-Arab genotypes in Burkina Faso.