Neurodegenerative diseases: The spinocerebellar ataxia type 7 in Mexico

Rolando Garcia-Martinez, Elizabeth Hernandez, Rebeca Toledo, Oscar H. Hernandez, María Elena Hernandez, Luis I. García, Shirley Ortiz, Jorge Manzo

Resumen


Resumen

Las ataxias espinocerebelosas (AECs) son un grupo de enfermedades neurodegenerativas que tienen un origen genético. Algunas son causadas por la mutación en un gen que conduce a la producción de una proteína anormal llamada ataxina, un factor de transcripción que tiende a formar inclusiones en el núcleo y el citoplasma de la célula. Esta alteración se ha asociado con las manifestaciones clínicas y patológicas de la enfermedad. Sin embargo, poco se sabe acerca de estas enfermedades en muchos países de América Latina. Objetivo. El propósito de esta revisión es presentar el estado actual de la investigación sobre las AECs, su clasificación y describir a una familia Mexicana diagnosticada con AEC tipo 7 (AEC7), para entender su historia y su genealogía. Método: La investigación se realizó de la base de datos del PUBMED y de los archivos del Instituto de Rehabilitación para las Ataxias en México (IRAM). Conclusión. Debido a la importancia de describir la prevalencia y la frecuencia de las AECs en otros estados de México, es necesario apoyar la investigación en esta área, especialmente en las instituciones de salud del gobierno.

 

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.

Keywords: Spinocerebellar ataxia; neurodegenerative disease; triplet repeats; ataxin.


Palabras clave


Ataxia espinocerebelosa; enfermedad neurodegenerativa; tripletes repetidos; ataxina.

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Referencias


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