Friedreich Ataxia and close related scientific news. Topics related to rare diseases.
Tuesday, November 2, 2021
Clinical and Molecular Features of First Mexican Friedreich's Ataxia Patients with Compound Heterozygous FXN Mutations
Boll MC, Gasca-Saldaña D, Mayén-Lobo YG, Dávila-Ortiz de Montellano DJ, Monroy-Jaramillo N.; Neurol India 2021;69:1363-7. DOI: 10.4103/0028-3886.329555
Eighteen patients had a homozygous FXN genotype; whereas five were CH patients with a slow progression and phenotypic variability, including a late-onset case with spastic paraparesis, and a Charcot-Marie-Tooth-like case.