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

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

Pneumatic evoked potential. Sensory or auditive potential?

International audienceIn this study, evoked potentials (EPs) to a pneumatic, innocuous, and calibrated stimulation of the skin were recorded in 22 volunteers. A reproducible EP was recorded in 18 out of 22 subjects (82% of cases) with a mean latency of about 120-130 ms, and maximal amplitude at Cz. This EP actually consisted of two components, an auditory and a somatosensory one. Indeed, it was significantly decreased in amplitude, but did not disappear, when the noise generated by the air-puff was masked. We also verified that a stimulation close to the skin but not perceived by the subject was not associated with any EP. Conduction velocity between hand and shoulder was calculated around 25 m/s. This preliminary study demonstrates that pneumatic EPs can be recorded in normal volunteers