| Autor: |
Sánchez-Corona J; Instituto Mexicano del Seguro Social - IMSS, Centro de Investigaciones Biomédicas de Occidente - CMNO, División de Medicina Molecular, Jalisco, Mexico., Ramirez-Garcia SA; Universidad de la Sierra Sur, Instituto de Nutrición y de Investigaciones sobre la Salud Pública, Oaxaca, Mexico., Castañeda-Cisneros G; Instituto Mexicano del Seguro Social - IMSS, UMAE Hospital de Especialidades, Centro Médico de Occidente, Guadalajara, Jalisco, Mexico., Gutiérrez-Rubio SA; Universidad de Guadalajara, Centro Universitario de Ciencias de la Salud - CUCS, Departamento de Fisiología, Guadalajara, Jalisco, Mexico., Volpini V; Institut d'Investigació Biomédica de Bellvitge - IDIBELL, Centro de Diagnóstico Genético Molecular, Barcelona, Spain., Sánchez-Garcia DM; ITESO, Universidad Jesuita de Guadalajara, Guadalajara, Jalisco, Mexico., García-Ortiz JE; Instituto Mexicano del Seguro Social - IMSS, Centro de Investigación Biomédica de Occidente - CIBO, División de Genética, Guadalajara, Jalisco, Mexico., García-Cruz D; Universidad de Guadalajara, Centro Universitario de Ciencias de la Salud - CUCS, Instituto de Genética Humana 'Enrique Corona Rivera', Jalisco, Mexico. |
| Abstrakt: |
The spinocerebellar ataxia type 2 is a neurodegenerative disease with autosomal dominant inheritance; clinically characterized by progressive cerebellar ataxia, slow ocular saccades, nystagmus, ophthalmoplegia, dysarthria, dysphagia, cognitive deterioration, mild dementia, peripheral neuropathy. Infantile onset is a rare presentation that only has been reported in four instances in the literature. In the present work a boy aged 5 years 7 months was studied due to horizontal gaze-evoked nystagmus, without saccades, ataxic gait, dysarthria, dysphagia, dysmetria, generalized spasticity mainly pelvic, bilateral Babinsky. The mother aged 27 years-old presented progressive cerebellar ataxia, dysarthria, dysmetria, dysdiadochokinesis, limb ataxia and olivopontocerebellar atrophy. The molecular analysis was made by identifying the expansion repeats in tandem by long PCR to analyze the repeats in the ATXN2 gene. We found an extreme CAG expansion repeats of ~884 repeats in the child. We describe a Mexican child affected by SCA2 with an infantile onset, associated with a high number of CAG repeats previously no reported and anticipation phenomenon. |
