| Autor: |
Guenther, G., Lagunes, L.L.F., Alaniz, P.Z., Woehrlen, M.C.B., de Montellano, D.J.D-O., Zapata, C.M.C., García, M.Á.R., Garay, C.M., Carrillo-Sánchez, K., Olivares, M.J., Rivas, A.M., Torres, B.E.V., Saldaña, D.G., Latorre, E.A.G., Verson, C.A. |
| Zdroj: |
Neurology perspectives; October-December 2022, Vol. 2 Issue: 4 p214-223, 10p |
| Abstrakt: |
Spinocerebellar ataxia autosomal recessive (SCAR) represents a heterogeneous chronic and progressive neurological diseases group. They usually occur at an early age in a progressive manner. Diagnosis is complex due to phenotypic overlap. SCARs account for more than 50% of all ataxia cases of genetic origin, with a prevalence of 3–4/100 000. According to international published series, Friedreich's ataxia (FA) is the most common. In Mexico, more than 90% of patients with suspected SCAR remain without etiologic diagnosis after ruling out FA and acquired causes of ataxia. Our main goal was to reach a diagnosis using genomic tools in this group of patients. |
| Databáze: |
Supplemental Index |
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