Figure - available from: neurogenetics
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Brain MRI abnormalities in ATL1 patients. Abnormal signals of white matter in axial flair (blue arrows). Patient 1: corona radiata (A) and pre-central/post-central gyrus (B). Patient 2 corona radiata (C and D)
Source publication
ATL1-related spastic paraplegia SPG3A is a pure form of hereditary spastic paraplegia. Rare complex phenotypes have been described, but few data concerning cognitive evaluation or molecular imaging of these patients are available. We relate a retrospective collection of patients with SPG3A from the Neurology Department of Nancy University Hospital,...
Citations
The diagnosis and follow-up of peripheral neuropathies involving small-diameter nerve fibers require specific examinations beyond conventional nerve conduction studies which only concern large-diameter nerve fibers. Among these tests, some are dedicated to the investigation of cutaneous innervation by the autonomic nervous system, mainly by unmyelinated sympathetic C fibers. To this end, various laboratory tests have been proposed, but the measurement of electrochemical skin conductance (ESC) by Sudoscan® is increasingly becoming the most widely used technique, because it allows a quick and simple assessment of the sudomotor function of the limb extremities. This technique is based on the principles of reverse iontophoresis and chronoamperometry and since its introduction in 2010, has been the source of nearly 200 publications. In the clinical field, most of these publications concern the evaluation of diabetic polyneuropathy, for which the value of Sudoscan® no longer needs to be demonstrated. However, there is also evidence for a role for Sudoscan® in the testing of the autonomic nervous system in various peripheral neuropathies of other origins or diseases primarily affecting the central nervous system. In this article, a comprehensive review of the literature on the clinical value of Sudoscan® outside of diabetes is presented, detailing ESC changes in neuropathies associated with various clinical conditions, such as hereditary amyloidosis or other genetic pathologies, chemotherapy neurotoxicity, dysimmune or infectious disorders, fibromyalgia, parkinsonism or other neurodegenerative diseases.
