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Sympathetic skin responses (SSR) are a simple procedure to investigate sympathetic activity. More specifically, SSR elicited from median nerve stimulation and recorded from the feet and genitals assess sympathetic activity resulting from thoracic-lumbar (TL) innervation. Since TL innervation is also involved in the mediation of psychogenic erection in spinal cord injured men, this study investigated the relationship between SSR and psychogenic erection in spinal cord injured subjects. The results support a general association between SSR and psychogenic erection and show that subjects who maintain SSR responses in the feet and genitals generally maintain psychogenic erections as well. Inconsistent cases are discussed from a theoretical and clinical perspective and overall results are discussed in terms of their clinical application in the evaluation of sexual function in spinal cord injured men. [ABSTRACT FROM AUTHOR]

Abstract: Left precordial chest pain (LPCP) evokes above all angina. Eliminating a cardiac origin is then always the first priority. When cardiac causes are eliminated, non-cardiac causes are sought in order to avoid leaving patients with undiagnosed or undifferentiated chest pain. There is a myriad of non-cardiac causes ranging from heartburn, panic attacks, pleurisy, pulmonary embolism, pneumothorax, Tietze syndrome, bruises and fractures of the ribs, to spine meningioma, neuroma, herniated disk and impairment of the nerve roots. Although clinical presentation and characteristics of the pain are usually helpful in diagnosing the cause, conducting magnetic resonance imaging of the spine may be of a high utility in some situations. Here we report a case of chronic angina-like LPCP, caused by a thoracic meningioma. [Copyright &y& Elsevier]

Background: Charcot-Marie-Tooth type 1A disease (CMT1A) is a rare orphan inherited neuropathy caused by an autosomal dominant duplication of a gene encoding for the structural myelin protein PMP22, which induces abnormal Schwann cell differentiation and dysmyelination, eventually leading to axonal suffering then loss and muscle wasting. We favour the idea that diseases can be more efficiently treated when targeting multiple disease-relevant pathways. In CMT1A patients, we therefore tested the potential of PXT3003, a low-dose combination of three already approved compounds (baclofen, naltrexone and sorbitol). Our study conceptually builds on preclinical experiments highlighting a pleiotropic mechanism of action that includes downregulation of PMP22. The primary objective was to assess safety and tolerability of PXT3003. The secondary objective aimed at an exploratory analysis of efficacy of PXT3003 in CMT1A, to be used for designing next clinical development stages (Phase 2b/3). Methods: 80 adult patients with mild-to-moderate CMT1A received in double-blind for 1 year Placebo or one of the three increasing doses of PXT3003 tested, in four equal groups. Safety and tolerability were assessed with the incidence of related adverse events. Efficacy was assessed using the Charcot-Marie-Tooth Neuropathy Score (CMTNS) and the Overall Neuropathy Limitations Scale (ONLS) as main endpoints, as well as various clinical and electrophysiological outcomes. Results: This trial confirmed the safety and tolerability of PXT3003. The highest dose (HD) showed consistent evidence of improvement beyond stabilization. CMTNS and ONLS, with a significant improvement of respectively of 8% (0.4% - 16.2%) and 12.1% (2% - 23.2%) in the HD group versus the pool of all other groups, appear to be the most sensitive clinical endpoints to treatment despite their quasi-stability over one year under Placebo. Patients who did not deteriorate over one year were significantly more frequent in the HD group. Conclusions: These results confirm that PXT3003 deserves further investigation in adults and could greatly benefit CMT1A-diagnosed children, usually less affected than adults. Trial registration EudraCT Number: 2010-023097-40. ClinicalTrials.gov Identifier: NCT01401257. The Committee for Orphan Medicinal Products issued in February 2014 a positive opinion on the application for orphan designation for PXT3003 (EMA/OD/193/13). Electronic supplementary material The online version of this article (doi:10.1186/s13023-014-0199-0) contains supplementary material, which is available to authorized users.

Background and Purpose: Aging is recognized to originate from a diversity of mechanisms that blur the limits between normal and pathologic processes. The purpose of this study was to determine the early effect of normal aging on the regional distribution of brain metabolite concentrations, including N-acetylaspartate (NAA), a major neuronal marker, choline (Cho), and creatine (Cr)., Methods: Thirty-two healthy participants, ages 21 to 61 years, were examined by proton MR spectroscopic (1H MRS) imaging. 1H MRS imaging acquisitions were performed in two brain locations: the centrum semiovale and the temporal lobe. Thirty voxels were selected in four cerebral regions, cortical, semioval, temporal, and hippocampal, and 1H MR spectra were processed to determine the metabolite ratios., Results: With advancing age of the participants, the ratios of %NAA, NAA:Cho, and NAA:Cr were significantly decreased, whereas the ratios of %Cho and %Cr were significantly increased in the cortical, semioval, and temporal regions. On the basis of the significant metabolic difference determined by cluster analysis, two groups of 16 participants with ages ranging from 21 to 39 years (younger group) and 40 to 61 years (older group) were compared. Repeated measures analysis of variance tests, with multiple comparison procedures between the two age groups and among the four brain region groups, showed significant decreases of the %NAA, NAA:Cho, and NAA:Cr ratios in the semioval and temporal regions of the older group compared with the younger group. When compared with other cerebral regions, %NAA and %Cho ratios were significantly decreased in the hippocampal and cortical regions, respectively., Conclusion: These metabolic changes suggest that brain aging is characterized by a reduction in neuronal viability or function associated with an accelerated membrane degradation and/or an increase in glial cell numbers.

We studied the percentage change in compound muscle action potential (CMAP) amplitude and area during and after a 5-min maximal contraction of the muscle. The exercise test (ET) was performed on 64 patients with different muscle disorders and on 46 normal controls. The range of normal ET values was defined as the mean + 2 SD of the control values. The mean sensitivity of the test was 63% in the whole group with ion channel muscle disorders, the highest sensitivity being seen in primary periodic paralysis (81%) and the lowest in chloride channelopathies (17%). In thyrotoxic periodic paralysis, the ET was abnormal in the three of the four patients studied. In patients with myotonic dystrophy, a smaller than normal increase in CMAP amplitude occurred during and after exercise, whereas in proximal myotonic myopathy a normal initial increase in CMAP amplitude was followed by an abnormal decrement. We conclude that the ET can be of use in confirming abnormal muscle membrane excitability in patients with calcium and sodium channelopathies and thyrotoxic periodic paralysis. In chloride channelopathy, the test may also be abnormal, but shows no, or only a small, increase in amplitude or area in the immediate postexercise period. The test may also be abnormal in proximal myotonic myopathy, but is normal in myotonic dystrophy., (Copyright 2000 John Wiley & Sons, Inc.)

Charcot-Marie-Tooth (CMT) type-1 (CMT1) neuropathy is characterized by peripheral nerve demyelination and has been divided into several subtypes. The most frequent among these, subtype 1A, is related to a microduplication of the region p11.2 of chromosome 17. This region contains the PMP-22 gene which is involved in peripheral nerve myelination. Since motor nerve conduction velocity (MNCV) is closely related to nerve myelination, we compared type-1A patient MNCVs versus non-A CMT1 patient MNCVs, in 57 CMT1A patients and 21 non-A type-1 patients. Patients with the 17p11.2 duplication have MNCVs that are significantly more reduced (about 20 m/s) compared to patients without the 17p11.2 duplication (about 30 m/s). This study also permits a model of the MNCV in the median nerve (MedMNCV) of CMT1 patients, with age, gender and molecular status as parameters. Furthermore, in order to help clinicians to diagnose subtypes of CMT1 patients, the probability for type 1A is modeled as a function of MedMNCV only.

Ceroid-lipofuscinosis (CL) is a neurometabolic disorder due to an as yet unknown enzymatic deficiency. The electron-microscopic study of various organs shows a storage of a lipofuscin-like material. The ultrastructural study of clinically uninvolved skin in a typical case of juvenile CL is reported. Granular osmiophilic deposits were found in several cell types in the dermis, including fibroblasts, endothelial cells, macrophages, Schwann cells, pericytes, and muscle cells. Neither fingerprint nor curvilinear profiles could be observed. These findings demonstrate the involvement of clinically normal skin in CL and confirm the usefulness of the EM study of the skin in the diagnosis of this rare disorder.