Sensory and motor neuronopathy in a patient with the A382P TDP-43 mutation

Orphanet J Rare Dis. 2011 Feb 5;6:4. doi: 10.1186/1750-1172-6-4.

Abstract

Patients with TARDBP mutations have so far been classified as ALS, sometimes with frontal lobe dysfunction. A 66-year-old patient progressively developed a severe sensory disorder, followed by a motor disorder, which evolved over nine years. Symptoms started in the left hand and slowly involved the four limbs. Investigations were consistent with a mixed sensory and motor neuronopathy. A heterozygous change from an alanine to a proline at amino acid 382 was identified in exon 6 of the TARDPB gene (p.A382P). This case expands the phenotypic spectrum associated with mutations in the TARDBP gene and shows that sensory neurons can be severely damaged early in the course of the disease, following a propagating process, with an orderly progression from a focal starting point. A combination of severe sensory and motor neuronopathy is rarely encountered in clinical practice. The possibility of an A382P TDP-43 mutation should be considered in patients with such an association.

Publication types

  • Case Reports

MeSH terms

  • Aged
  • DNA-Binding Proteins / genetics*
  • Hereditary Sensory and Autonomic Neuropathies / genetics
  • Humans
  • Male
  • Motor Neurons / metabolism*
  • Motor Neurons / pathology*
  • Mutation
  • Sensory Receptor Cells / metabolism*
  • Sensory Receptor Cells / pathology*

Substances

  • DNA-Binding Proteins