Taxonomy of ataxias. Algorithm of the lack of rhythm

Abstract

Degenerative ataxias consist of a heterogeneous group of diseases that are divided into a majority of hereditary entities and also sporadic forms. In an effort to make a thorough study and to improve the quality of care of these patients, we have designed a new clinical protocol that attempts to characterize the condition of each patient, considering monitoring and future treatments. The collection of this data will allow us to ascertain the entities that occur in our environment and make the best algorithm. We present here an analysis of 147 cases studied during the last 2 years with 85 cases of hereditary ataxias, of which the most common are dominant: SCA2 (20%) followed by SCA3 (12.3%) and recessive of which 6 confirmed FA cases and 1 case with pending molecular diagnostic, and finally, an important group of sporadic ataxias (62 cases) in which we have individualized “Friedreich ataxia-like” syndromes in young adults and cases pointing out mitochondrial diseases while in subjects over age 40, multiple system atrophies predominate. To diagnose these entities we applied the algorithm first introduced in the Medical-Surgical Meeting in December 2014 and in this publication. Our effort is only starting and we have to coordinate with geneticists especially in the study of sporadic early-onset ataxias. This report reflects the current status of ataxias followed in the INNN-MVS. It highlights the requirement for special attention to these patients as well as highly specialized studies to better define these conditions and not to forget those with specific treatment.