Frontiers in Neurology (Aug 2022)

Case report: A variant of the FIG4 gene with rapidly progressive amyotrophic lateral sclerosis

  • Mubalake Yilihamu,
  • Mubalake Yilihamu,
  • Mubalake Yilihamu,
  • Xiaolu Liu,
  • Xiaolu Liu,
  • Xiaolu Liu,
  • Xiaoxuan Liu,
  • Xiaoxuan Liu,
  • Xiaoxuan Liu,
  • Yong Chen,
  • Yong Chen,
  • Yong Chen,
  • Dongsheng Fan,
  • Dongsheng Fan,
  • Dongsheng Fan

DOI
https://doi.org/10.3389/fneur.2022.984866
Journal volume & issue
Vol. 13

Abstract

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Heterozygous autosomal-dominant FIG4 mutations are associated with amyotrophic lateral sclerosis (ALS). Here, we describe a variant of the FIG4 gene (c.350dupC, p.Asp118GlyfsTer9) in a patient with rapidly progressive ALS that has not previously been reported in ALS or primary lateral sclerosis (PLS) patients before. Our study provides further information on the genotypes and phenotypes of patients with FIG4 mutations.

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