Boll WMC, Rodríguez ISN, Ochoa A, Martínez RL, Rodríguez OU

Language: Spanish
References: 14
Page: 6-13
PDF size: 562.09 Kb.

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.

REFERENCES

1. Coba Barbosa JA, Ataxias hereditarias: incidencia, clasificación, correlación clínico-genética, Tesis INNN-UNAM 1996.

2. Harding AE. Classification of the hereditary ataxias and paraplegias. Lancet 1983;1:1151-55.

3. Klockgether T, Paulson H. Milestones in ataxia. Mov Disord 2011;26(6): 1134-41. 4. Romanul F C A, Fowler H L, Radvany J R, Feldman R G, Feingold M. Azorean disease of the nervous system. New England 1977;296(26):1505–1508.

4. Park H, Kim HJ, Jeon BS. Parkinsonism in Spinocerebellar Ataxia, Biomed Res Int 2015:12527.

5. Lynch DR, Farmer JM, Tsou AY, Perlman S, Subramony SH . Measuring Friedreich ataxia: complementary features of examination and performance measures. Neurology 2006; 66:1711- 16.

6. Sanchez Jordan A, Martinez López Y, Boll MC. Diagnóstico clínico de atrofia de sistemas múltiples en una serie de casos. Arch Neuroci (Mex)2013;18(1):10-4.

7. Scale for the Assessment and rating of ataxia (SARA) Weyer A. Reliability and validity of the scale for the assessment and rating of ataxia: a study in 64 ataxia patients. Mov Disord 2007; 22 (11): 1633–7.

8. Mercadillo RE, Galvez V, Díaz R, Hernández-Castillo CR, Campos-Romo A, Boll MC, Pasaye EH, Fernandez-Ruiz J. Parahippocampal gray matter alterations in Spinocerebellar Ataxia Type 2 identified by voxel based morphometry. J Neurol Sci 2014;347(1-2):50-8.

9. Alonso E, Martínez-Ruano L, De Biase I. Distinct distribution of autosomal dominant spinocerebellar ataxia in the Mexican population. Mov Disord 2007; 22: 1050-55.

10. Fogel BL, Perlman S. Clinical features and molecular genetics of autosomal recessive cerebellar ataxia. Lancet Neurol 2007; 6: 245-57.

11. Chhetri SK, Gow D, Shaunak S, Varma A. Clinical assessment of the sensory ataxias; diagnostic algorithm with illustrative cases. Pract Neurol 2014;14:4 242-2

12. Anheim M, Trachant Ch, Koening M. The autosomal recessive cerebellar ataxias. New Engl 2012;366:636-46.

13. RE(ACT) 2nd International Congress on Research of Rare and Orphan Diseases. Mol Syndromol 2014;5: 87-99.

14. Barsottini OG, Albuquerque MV, Braga-Neto P, Pedroso JL. Adult onset sporadic ataxias: a diagnostic challenge. Arq Neuropsiquiatr 2014;72(3): 232-40.