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

Caractérisation des troubles sensitifs dans une population de patients allodyniques

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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

Thalamic thermo-algesic transmission: ventral posterior (VP) complex versus VMpo in the light of a thalamic infarct with central pain

International audienceThe respective roles of the ventral posterior complex (VP) and of the more recently described VMpo (posterior part of the ventral medial nucleus) as thalamic relays for pain and temperature pathways have recently been the subject of controversy. Data we obtained in one patient after a limited left thalamic infarct bring some new insights into this debate. This patient presented sudden right-sided hypesthesia for both lemniscal (touch, vibration, joint position) and spinothalamic (pain and temperature) modalities. He subsequently developed right-sided central pain with allodynia. Projection of 3D magnetic resonance images onto a human thalamic atlas revealed a lesion involving the anterior two thirds of the ventral posterior lateral nucleus (VPL) and, to a lesser extent, the ventral posterior medial (VPM) and inferior (VPI) nuclei. Conversely, the lesion did not extend posterior and ventral enough to concern the putative location of the spinothalamic-afferented nucleus VMpo. Neurophysiological studies showed a marked reduction (67%) of cortical responses depending on dorsal column-lemniscal transmission, while spinothalamic-specific, CO2-laser induced cortical responses were only moderately attenuated (33%). Our results show that the VP is definitely involved in thermo-algesic transmission in man, and that its selective lesion can lead to central pain. However, results also suggest that much of the spino-thalamo-cortical volley elicited by painful heat stimuli does not transit through VP, supporting the hypothesis that a non-VP locus lying more posteriorly in the human thalamus is important for thermo-algesic transmission

Réorganisations allodyniques corticales dans la douleur neuropathique

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Expertise sensitive des douleurs neuropathiques. (Apport de la sensibilité thermique quantifiée)

ST ETIENNE-BU Médecine (422182102) / SudocPARIS-BIUM (751062103) / SudocSudocFranceF

Réorganisations allodyniques corticales dans la douleur neuropathique

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Complex visual discrimination is impaired after right, but not left, anterior temporal lobectomy

Abstract The prevailing view in human cognitive neuroscience associates the medial temporal lobes (MTLs) with declarative memory. Compelling experimental evidence has, however, demonstrated that these regions are specialized according to the representations processed, irrespective of the cognitive domain assessed. This account was supported by the study of patients with bilateral medial temporal amnesia, who exhibit impairments in perceptual tasks involving complex visual stimuli. Yet, little is known regarding the impact of unilateral MTL damage on complex visual abilities. To address this issue, we administered a visual matching task to 20 patients who underwent left ( N = 12) or right ( N = 8) anterior temporal lobectomy for drug‐resistant epilepsy and to 38 healthy controls. Presentation viewpoint was manipulated to increase feature ambiguity, as this is critical to reveal impairments in perceptual tasks. Similar to control participants, patients with left‐sided damage succeeded in all task conditions. In contrast, patients with right‐sided damage had decreased accuracy compared with that of the other two groups, as well as increased response time. Notably, the accuracy of those with right‐sided damage did not exceed chance level when feature ambiguity was high (i.e., when stimuli were presented from different viewpoints) for the most complex classes of stimuli (i.e., scenes and buildings, compared with single objects). The pattern reported in bilateral patients in previous studies was therefore reproduced in patients with right, but not left, resection. These results suggest that the complex visual‐representation functions supported by the MTL are right‐lateralized, and raise the question as to how the representational account of these regions applies to representations supported by left MTL regions

Cardiac autonomic response to hyperventilation and risk of SUDEP

34th International Epilepsy Congress, ELECTR NETWORK, AUG 28-SEP 01, 2021International audienc