Neurodegenerative diseases: The spinocerebellar ataxia type 7 in Mexico
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- ISSN 2007-3054
- Centro de Investigaciones Cerebrales
Universidad Veracruzana
Rolando Garcia-Martinez1*, Elizabeth Hernandez2, Rebeca Toledo2**, Oscar H. Hernandez1*, Maria Elena Hernandez2**, Luis I. Garcia2***, Shirley Ortiz3, Jorge Manzo2***
1Centro de Investigaciones Biomedicas, Universidad Autonoma de Campeche, Mexico. 2Centro de Investigaciones Cerebrales, Universidad Veracruzana, Xalapa, Ver., Mexico. 3Instituto de Rehabilitacion para las Ataxias en Mexico, A.C., Mexico. *Cuerpo Academico de Biomedicina, Universidad Autonoma de Campeche. **Cuerpo Academico de Neuroquimica, Universidad Veracruzana. ***Cuerpo Academico de Neurociencias, Universidad Veracruzana.
Abstract
The spinocerebellar ataxias (SCAs) are a group of neurodegenerative diseases that have a genetic origin. Some are caused by a mutation in a gene that lead to the production of an abnormal protein called ataxin, a transcription factor that tends to form inclusions in the nucleus and cytoplasm of the cell. This alteration has been associated with the clinical and pathological manifestations of this disease. However, little is known about these diseases in many Latin American countries. Objective: The purpose of this review is to present the current state of research on SCAs, its classification, and to describe a Mexican family diagnosed with SCA type 7 (SCA7), to understand its history and genealogy. Method: Searches of the PUBMED databases and files of the Instituto de Rehabilitacion para las Ataxias en Mexico (IRAM) were performed. Conclusion: Because it is important to describe the prevalence and frequencies of the SCAs in other states of Mexico, it is necessary to support research in this area, especially in government health institutions.
Key words: Spinocerebellar ataxia, Neurodegenerative disease, Triplet repeats, Ataxin
*Laboratorio de Neurofisiologia, Centro de Investigaciones Biomedicas, Universidad Autonoma de Campeche Av. Agustin Melgar s/n Col. Buenavista, Campeche, Camp. C.P. 24039 Tel. (981) 8119800 Ext. 2020100 Fax +52 981 813 01 76. email: rogarcia@uacam.mx.