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

Jean Philippe Camdessanché, Véronique V. Belzil, Guillemette Jousserand, Guy A. Rouleau, Christelle Créac'H, Philippe Convers, Jean Christophe Antoine

Research output: Contribution to journalArticle

11 Scopus citations

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.

Original languageEnglish (US)
Article number4
JournalOrphanet Journal of Rare Diseases
Volume6
Issue number1
DOIs
StatePublished - Jan 1 2011

ASJC Scopus subject areas

  • Genetics(clinical)
  • Pharmacology (medical)

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    Camdessanché, J. P., Belzil, V. V., Jousserand, G., Rouleau, G. A., Créac'H, C., Convers, P., & Antoine, J. C. (2011). Sensory and motor neuronopathy in a patient with the A382P TDP-43 mutation. Orphanet Journal of Rare Diseases, 6(1), [4]. https://doi.org/10.1186/1750-1172-6-4