Abstract

LEON-CASTILLO, Daniela A. et al. Amyotrophic Lateral Sclerosis as a phenotypic form of the SPG11 gene mutation spectrum. A case report. Rev. med. Hosp. Gen. Méx. [online]. 2023, vol.86, n.4, pp.151-155.  Epub Oct 16, 2023. ISSN 2524-177X.  https://doi.org/10.24875/hgmx.22000068.

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that affects to both the upper and lower motor neuron. We reported a rare presentation of ALS with SPG11 mutation with heterozygous state, contrary to the classic autosomal recessive form of ALS associated with this mutation, thus documenting the third case found with probable association with said pattern of inheritance, and the first of related ALS a mutation of SPG11 in Mexico. This allows us to reaffirm the genetic heterogeneity of ALS and the prognostic importance of the determination of such rare mutations with less lethal course to the classical form.

Keywords : Amyotrophic lateral sclerosis; SPG11; Motor neuron disease; Mutation; Gene.

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