Chronic and Progressive Ataxia Program: Preliminary Results of the first 30 patients

KAUFFMAN MARCELO; GONZALEZ MORON DOLORES; ABAROA L; AGUIRRE FLORENCIA; ARAKAKI T; GARRETTO N

Congreso; International Congress of Parkinson's Disease and Movement Disorders; 2010

Objective: To systematize a diagnostic strategy and determine the most frequent genetic etiologies, we developed a multidisciplinary program for the study of chronic and progressive Ataxia in Argentina. Background: Chronic and progressive Ataxias are a heterogeneous group of disorders caused by a vast number of different etiologies. Although there have been numerous advances in the field, it is still difficult to arrive to a definite etiologic diagnosis in these patients. Furthermore, the prevalence of different genetic alterations differs in the population that is studied. Methods: The chronic and progressive Ataxia program is an ongoing epidemiologic registry of the clinical and molecular features of ataxic patients that are assisted in a tertiary center in Buenos Aires, Argentina. Molecular studies were performed as previously described in the literature. Results: At December 2009, 30 chronic and progressive ataxic patients were included. Among them, 20 cases were sporadic and the rest presented with a positive family history for the disorder (one sibship suggestive of a recessive disorder and five multigenerational pedigrees suggestive of dominant disorders). We arrived to an etiologic diagnosis in two sporadic cases and six familial cases: Fiedreich Ataxia in 3 subjects, Spinocerebellar Ataxia (SCA) type 2 in four patients and SCA 7 in one case. Conclusions: Preliminary results of our chronic and progressive ataxia program are presented.