Co-occurrence of progressive anarthria with an S393L TARDBP mutation and ALS within a family

Amyotroph Lateral Scler. 2012 Jan;13(1):155-7. doi: 10.3109/17482968.2011.598168. Epub 2011 Aug 11.

Abstract

Progressive anarthria is usually classified as a tau pathology. We report an 87-year-old female with a family history of ALS and Parkinsonism, presenting with progressive anarthria. Molecular genetics analyses showed a heterozygous mutation S393L on exon 6 of the TARDBP gene. It has been previously reported in sporadic and familial amyotrophic lateral sclerosis. This case strengthens the hypothesis of a continuum between motor neuron disease and frontotemporal lobar degeneration among TDP-43 proteinopathies.

Publication types

  • Case Reports

MeSH terms

  • Aged, 80 and over
  • Amyotrophic Lateral Sclerosis / epidemiology*
  • Amyotrophic Lateral Sclerosis / genetics*
  • Amyotrophic Lateral Sclerosis / physiopathology*
  • Comorbidity
  • DNA Mutational Analysis
  • DNA-Binding Proteins / genetics*
  • Exons
  • Family
  • Female
  • Humans
  • Male
  • Mutation
  • Pedigree
  • TDP-43 Proteinopathies / epidemiology*
  • TDP-43 Proteinopathies / genetics*
  • TDP-43 Proteinopathies / pathology
  • TDP-43 Proteinopathies / physiopathology*

Substances

  • DNA-Binding Proteins