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Objective: To report the clinical and electrophysiological characteristics of a family presenting Charcot -Marie-Tooth disease (CMT) associated with autonomic nervous system disturbances.Methods: We studied nerve conduction values, postural adaptation, sympathetic skin reflex, the variation in heart rate by the Valsalva ratio and pupillometry in 7 members of a French family in which CMT due to a Thr124Met mutation in the myelin protein zero (MPZ) gene was diagnosed.Results: Clinical and laboratory evidence of autonomic nervous system disturbances were found in the affected individuals. The clinical phenotype was characterized by sensorimotor peripheral neuropathy, defined as axonal type by electrophysiological studies, and was associated with severe pain, bladder dysfunction, sudorimotor disturbances and abolished pupillary reflex to light. Moreover, two patients had severe restrictive respiratory insufficiency requiring noninvasive mechanical ventilation.Conclusions: Our study demonstrates that autonomic disturbances may be one of the major clinical signs associated with CMT secondary to MPZ gene mutation in codon 124. Testing of pupillary reflex allows the discrimination of affected and unaffected subjects in our family. However, involvement of the autonomic nervous system in this type of neuropathy is unclear and further studies are required to elucidate the role of the MPZ gene in the autonomic nervous system.

The visual electrophysiologic abnormalities provide an interesting noninvasive diagnostic tool in idiopathic CJD. The B1-wave decrease is closely correlated with the outer plexiform layer abnormalities observed on neuropathologic examination.

A large number of patients with Parkinson's disease were reported to have abnormal visual-evoked potentials (VEPs) and spatiotemporal contrast sensitivity (STCS) suggesting dopaminergic deficiency in the visual pathway, probably the retina. Until now, VEPs and STCS have not been studied in multiple system atrophy (MSA). We investigated 12 patients with idiopathic Parkinson's disease (IPD) and 12 patients with MSA. The age medians were 64.5 years for IPD and 63.5 years for MSA. None of the patients showed any ocular disease that could interfere with the results. Checkboard VEPs and STCS measurements to horizontal sinusoidal gratings were evaluated. Statistical analysis was performed, including Student's t test and two- or three-way analysis of variance. A significant interocular difference in spatial contrast sensitivity was observed in IPD, which was not present in MSA. VEPs were not delayed in MSA, whereas latency of the major component and the second negative deflection were increased in IPD. VEPs and STCS measurements might provide useful help for distinguishing IPD from MSA.

Summary:Purpose: To evaluate the effect on visual function of a concomitant antiepileptic drug (AED) in patients treated with vigabatrin (VGB).Methods: Sixty-four consecutive patients with a history of partial seizures currently treated with VGB with either carbamazepine (CBZ) or valproate (VPA) were examined with automated kinetic perimetry, static perimetry, electrooculogram (EOG), and electroretinogram (ERG). An original device based on kinetic perimetry was developed to quantify the area of perception for each isopter.Results: Fifty-two patients were finally included. The results showed a significant difference in patients treated with VGB-VPA compared with patients treated with VGB-CBZ concerning the mean defect of static perimetry and the peripheral and midperipheral isopter (III 4e and III 1a Goldmann equivalent, respectively) in kinetic perimetry. EOG and ERG results did not differ significantly between the two groups.Conclusions: The visual impairment due to visual field constriction was more important in patients treated with VGB and VPA compared with patients treated with VGB and CBZ. The origin of this difference between the two associations could not be related to any particular retinal electrophysiologic abnormality.

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