Distal Neuropathy Research Articles

Diabetic Peripheral Neuropathies (DPNs) from Basic and Clinical Aspects

Diabetes has been one of the crucial diseases worldwide, which has to be controlled adequately for long years. It has three diabetic complications of micro-angiopathy such as neuropathy, retinopathy and nephropathy. Among them, Diabetic Peripheral Neuropathies (DPNs) are most prevalent to manage in primary care setting. In this article, recent topics concerning DPNs are introduced [1]. DPNs have a variety of symptoms and signs, then DPNs are often described in plural forms [2]. DPNs are classified into two categories, which are local and general. The former includes mononeuropathy and multifocal neuropathy. The latter includes diabetic polyneuropathy (DPN) and others. DPN has Distal Symmetric Polyneuropathy (DSPN) and Diabetic Autonomic Neuropathy (DAN) [2]. For examples, DSPN shows bilateral numbness of extremities and DAN shows Orthostatic Hypotension (OH).

Evaluating the Efficacy of the Treatment with Benfotiamine and Alpha-lipoic Acid in Distal Symmetric Painful Diabetic Polyneuropathy

Distal symmetric painful diabetic neuropathy is the most frequent clinical form of diabetic neuropathy. The condition appears as a result of alteration of the structure and function of nervous fibres as a consequence of hyperglycaemia. Hyperglycaemia determines the metabolism of glucose on alterative pathways and generates increased oxidative stress, mechanisms that cause an accelerated apoptosis of the neurons and a high intensity of lipid peroxidation. Pathogenic treatment of diabetic neuropathy includes limited options, two of them are: Benfotiamine (inhibits the metabolism of glucose on hexosamine pathway, reducing the formation of advanced glycosylation end products) and alpha-lipoic acid (has a scavenger effect on free radical species). The study included 120 patients with distal symmetric painful diabetic neuropathy randomized in 3 treatment groups. We evaluated the effect of oral administration for 8 weeks of Benfotiamine in a dosage of 300mg/day in monotherapy, of alpha-lipoic acid in a dosage of 600 mg/day in monotherapy, respectively of both -in combined therapy - on the parameters that are used to determine the severity of distal symmetric painful diabetic neuropathy: Diabetic Neuropathy Symptoms score, Neuropathy Disability Score and the intensity of lower limb pain on the visual analogue pain scale. All the three therapies were effective with a statistically significant improvement of these parameters, but the combined therapy with alpha-lipoic acid and Benfotiamine was superior to the monotherapy with alpha-lipoic acid or Benfotiamine.

Untangling a case of painful neuropathy

A 51-year-old right-handed man developed a sensory neuropathy with the sensation of walking on pebbles, and tight cramping pains in the calves requiring amitriptyline. Two months later, he became unsteady...

INFLUENCE OF KINESITHERAPY ON PATIENTS WITH DIABETIC POLYNEUROPATHY

Diabetes tends to increase steadily, and is one of the most common endocrinological diseases. This disease has a high prevalence, and the incidence is increasing every year both in the world and in our country. There are several risk factors for DMD, but the main risk factor is low glycemic control (chronic hyperglycaemia). With each increase in glycated hemoglobin by 1%, the chances of developing DMD are increased. Age is also one of the major factors (the longer the DM lasts, the greater the chances of developing diabetic polyneuropathy).The causes of diabetic polyneuropathy may be known, hereditary or non-hereditary, but sometimes the causes remain unknown. The aim is to study the effectiveness of a kinesiotherapy method, based on modern principles of neurorehabilitation in improving the functional status of patients with diabetic polyneuropathy. Patients were selected according to several criteria in order to have homogeneity of the study: to be between 40 and 60 years of age; have type 2 diabetes diagnosed; have diagnosed diabetic polyneuropathy - distal symmetric sensory motor neuropathy of the lower extremities; not have severe cardiovascular and respiratory insufficiency as well as severe cognitive impairment; have stable hemodynamics, and arterial pressure is below 160/95; to move without auxiliary means. The subjects were treated with a specialized kinesiotherapy method based on the modern principles of neurorehabilitation in DPN. For the purposes of the study, a complex set of diagnostic methods is applied, and the results from which are evaluated on day 1, day 10, and month 1 of treatment are shown in a worksheet. For the purpose of the study, a complex set of diagnostic methods is applied, and the results from which are evaluated on day 1, day 10 and month 1 of treatment are shown in a worksheet.Assessed: sensory capabilities with peripheral sensitivity test (pain) and deep sensitivity (discriminatory and vibrational sensitivity) motor capabilities with manual muscle test (MMT) and centimeter and equilibrium abilities with single leg test. Results and Discussion: The presented results provide an opportunity to analyze the effect of applied kinesiotherapy. For this purpose, follow-up of various evaluated parameters was performed at baseline, on day 10 and on month 1 of treatment. This design is respected in all patients with PDD included in the study. The specialized kinesiology method stabilizes the permanently functional motor revascularization and equilibration potential of patients with PDD. Conclusion: This is a complex study of the potential of kinesiotherapy to overcome sensory, motor, and balance deficits in continued outpatient treatment of patients with PDD. It has been carried out with modern test methods, which give the opportunity to evaluate the changes in the parameters examined, in terms of sensory, motor and equilibrium possibilities after specialized kinesiotherapy. The presence of positive change in all functional parameters was observed after the administration of specialized kinesiotherapy in all subjects.

P.380: Bi-allelic loss of function mutations in SYT2 cause a congenital onset severe presynaptic myasthenic syndrome

Synaptotagmins are integral membrane proteins of the synaptic vesicles that function as calcium sensors and regulate neurotransmitter release at the presynaptic nerve. Synaptotagmin II, encoded by SYT2, is the major isoform expressed at the neuromuscular junction. Syt2 deficient mice are known to develop a lethal impairment in synaptic transmission with a reduction in evoked release of neurotransmitters at the neuromuscular junction, manifesting with progressive motor degeneration. Recently dominant missense mutations in SYT2 have been reported as a rare cause of distal motor neuropathy and myasthenic syndrome, clinically manifesting as a relatively stable or slowly progressive, distal weakness of variable expressivity with presynaptic NMJ impairment, responsive to 3,4 diaminopyridine treatment in some patients. While the exact pathogenic mechanism of these dominantly-acting SYT2 missense mutations remains largely unknown, they all impact the C2B calcium-binding domain and are thought to have a dominant-negative effect on synaptic vesicle exocytosis. Here we report four patients, of three independent families, with bi-allelic loss-of-function mutations in SYT2, clinically manifesting with a remarkably consistent phenotype of severe congenital-onset hypotonia and weakness, with electrodiagnostic findings consistent with a presynaptic congenital myasthenic syndrome (CMS). This case series further establishes SYT2 as a CMS-disease gene and expands its clinical and genetic spectrum to include recessive loss-of-function mutations, manifesting as a severe congenital-onset presynaptic CMS with potential treatment implications, thus warranting an early genetic diagnosis.

Report of a novel ATP7A mutation causing distal motor neuropathy

We describe a novel ATP7A gene mutation associated with distal motor neuropathy, mild connective tissue abnormalities and autonomic disturbances. Next-generation sequencing analysis of a lower-motor neuron diseases gene panel was performed in two sibs presenting with distal motor neuropathy plus an autonomic dysfunction, which main manifestations were retrograde ejaculation, diarrhea and hyperhydrosis. Probands underwent dysmorphological, neurological, electrophysiological as well as biochemical evaluations and somatic and autonomic innervation studies on skin biopsies. A novel missense mutation (p.A991D) was identified in the X-linked ATP7A gene, segregating in both brothers and inherited from their healthy mother. Biochemical studies on patients’ blood samples showed reduced serum copper and ceruloplasmin levels. Clinical and neurophysiological evaluation documented dysautonomic signs. Quantitative evaluation of skin innervation disclosed a small fiber neuropathy with prevalent autonomic involvement. Mutations in the ATP7A gene, encoding for a copper-transporting ATPase, have been associated with the severe infantile neurodegenerative Menkes disease and in its milder variant, the Occipital Horn Syndrome. Only two ATP7A mutations were previously reported as causing, a pure axonal distal motor neuropathy (dHMN-SMAX3). The phenotype we report represents a further example of this rare genotype-phenotype correlation and highlights the possible occurrence in SMAX3 of autonomic disturbances, as described for Menkes disease and Occipital Horn Syndrome.

Variants in MME are associated with autosomal-recessive distal hereditary motor neuropathy.

ObjectiveTo identify a new genetic cause in patients segregating distal hereditary motor neuropathy (dHMN) with an autosomal recessive pattern.MethodsWhole‐exome sequencing was conducted in two siblings and was combined with segregation analysis. Additionally, 83 unrelated dHMN patients with unknown genetic cause were screened. RNA analysis was performed using blood lymphocytes and HEK293 cells transfected with mutant plasmids. Immunohistochemistry and Western blot analysis was applied to the nerve tissue. The enzymatic activities of mutant proteins were measured in the cultured cells to verify the pathogenicity of variants.ResultsThe clinical features of the patients showed late‐onset phenotype of distal motor neuropathy without sensory involvement. We identified that compound heterozygous variants of c.1342C>T and c.2071_2072delGCinsTT in the membrane metalloendopeptidase (MME) gene co‐segregated with the phenotype in a dHMN family. In an additional group of 83 patients with dHMN, compound heterozygous variants of c.1416+2T>C and c.2027C>T in MME were identified in one patient. The splice site variant c.1416+2T>C results in skipping of exon 13. The stop variant c.1342C>T induces mRNA degradation via nonsense‐mediated mRNA decay. Transcript levels of MME in the lymphocytes showed no significant differences between the patients and controls. We also identified that MME variants were associated with mild decrease in protein expression in the sural nerve and significant impairments of enzymatic activity.InterpretationVariants in the MME gene were associated with not only a Charcot‐Marie‐Tooth neuropathy phenotype but also with an autosomal‐recessive dHMN phenotype. Loss of function may play a role in the pathogenesis of dHMN.

Distal Sensory Peripheral Neuropathy in Human Immunodeficiency Virus Type 1-Positive Individuals Before and After Antiretroviral Therapy Initiation in Diverse Resource-Limited Settings.

Distal sensory peripheral neuropathy (DSPN) is a complication of human immunodeficiency virus (HIV). We estimate DSPN prevalence in 7 resource-limited settings (RLSs) for combination antiretroviral therapy (cART)-naive people living with HIV (PLWH) compared with matched participants not living with HIV and in PLWH virally suppressed on 1 of 3 cART regimens. PLWH with a CD4+ count <300 cells/mm3 underwent standardized neurological examination and functional status assessments before and every 24 weeks after starting cART. Matched individuals not living with HIV underwent the same examinations once.Associations between covariates with DSPN at entry were assessed using the χ2 test, and virally suppressed PLWH were assessed using generalized estimating equations. Before initiating cART, 21.3% of PLWH had DSPN compared with 8.5% of people not living with HIV (n = 2400; χ2(df = 1) = 96.5; P < .00001). PLWH with DSPN were more likely to report inability to work [χ2(df = 1) = 10.6; P = .001] and depression [χ2(df = 1) = 8.9; P = .003] than PLWH without DSPN. Overall prevalence of DSPN among those virally suppressed on cART decreased: 20.3%, week 48; 15.3%, week 144; and 10.3%, week 192. Incident DSPN was seen in 127 PLWH. Longitudinally, DSPN was more likely in older individuals (P < .001) and PLWH with less education (P = .03). There was no significant association between cART regimen and DSPN. Although the prevalence of DSPN decreased following cART initiation in PLWH, further research could identify strategies to prevent or ameliorate residual DSPN after initiating cART in RLSs.

Role of Ultrasonography in Severe Distal Median Nerve Neuropathy.

Electrodiagnostic studies do not differentiate severe lesions of the median nerve in the distal forearm from those within the carpal tunnel when compound muscle action potential over the abductor pollicis brevis and sensory nerve action potential are absent; needle electromyography showing denervation confined to the abductor pollicis brevis is presumed to suggest localization to the carpal tunnel, although the lesion may be in the forearm. Under these circumstances, the patient may undergo carpal tunnel release without benefit. This retrospective study looked at patients with clinical picture of severe carpal tunnel syndrome who had no compound muscle action potential or sensory nerve action potential on median nerve stimulation; the goal was to determine how often ultrasonic imaging pointed to a location other than the carpal tunnel. Patients with clinical picture of severe carpal tunnel syndrome with no sensory nerve action potential and no compound muscle action potential over the abductor pollicis brevis and second lumbrical underwent ultrasonic imaging; criteria for localization to the carpal tunnel included significant increase in the cross-sectional area of the median nerve at the carpal tunnel inlet and increase in the wrist/forearm cross-sectional area ratio. In 42 of 46 cases, entrapment at the carpal tunnel was confirmed by ultrasonography; in four patients, other causes were located proximal to the carpal tunnel. Ultrasonic imaging is useful not only for confirming entrapment of the median nerve at the carpal tunnel in patients with nonlocalizing electrodiagnostic studies but also in detecting pathology in the forearm, which may mimic severe carpal tunnel syndrome.

Clinical and Ultrasonographic Features of Distal Ulnar Neuropathy: A Review.

Focal ulnar neuropathy at the wrist is a rare but problematic disorder often associated with the unique anatomy of this nerve as it courses through Guyon's canal, a superficial fibro-osseous tunnel in the proximal ulnar palm. The electrophysiologic features of this disorder have been well-characterized, but the sonographic anatomy of the nerve across the wrist and palm has yet to be systematically described in normal and abnormal states. In this review, we describe the basic anatomy and the sonographic appearance of the nerve in the wrist and palm in normals and individuals with pathology. The value of using US in conjunction with electrodiagnostic testing is emphasized as the two tests together provide critical information regarding etiology, predisposing factors, and functional significance. Furthermore, ultrasound is useful as a patient educational tool to promote behavioral changes that assist in nerve recovery when pathology is related to repetitive stress.

81-OR: Depressive Symptomatology Is a Major Predictor of Incident Disability in a Cohort of Childhood-Onset Type 1 Diabetes

Type 1 diabetes (T1D) is associated with numerous complications, which may in turn cause significant disability. However, little evidence is available on the proportion of T1D patients affected by disability in the U.S. We thus assessed incidence and predictors of disability in a childhood onset T1D cohort (n=658, mean baseline age, 28 and diabetes duration, 19 years) during a 25 year follow-up. Disability was assessed via self-report in response to the question: “Do you have any disabilities that limit the type or amount of work you can do at home, school or on the job?” Of 509 free of disabilities at baseline, 49.7% (n=253) reported a disability during follow-up. Incident cases were more likely to be older at baseline, with longer diabetes duration, higher HbA1c, non-HDLC, triglycerides, and albumin excretion rate (AER). They were also more likely to be women, current smokers, have hypertension, depressive symptoms (Beck Depression Inventory), and prevalent complications (i.e., cardiac autonomic neuropathy, proliferative retinopathy (PR), distal symmetric neuropathy (DSP), lower extremity arterial disease, and increased albuminuria). In multivariable Cox models, independent predictors of disability incidence comprised diabetes duration (HR=1.05, 95% CI: 1.02-1.07), female sex (1.99, 1.46-2.72), current smoking (1.40, 0.99-1.97), HbA1c (1.24, 1.12-1.38), non-HDLC (1.007, 1.003-1.011), log AER (1.12, 1.03-1.23), DSP (1.59, 1.10-2.29), coronary artery disease (1.84, 1.00-3.38) and depressive symptoms (mild/moderate HR=1.38 (0.98-1.94); moderate/severe HR=2.25 (1.24-4.09)). The addition of depressive symptoms to models including traditional risk factors and complication status significantly enhanced the prediction of incident disability (Uno’s concordance statistic p=0.02). In conclusion, modifiable risk factors, depressive symptoms and diabetes complications predicted disability incidence, which affected almost half of this T1D cohort. Disclosure T. Costacou: None. T.J. Orchard: Consultant; Self; Boehringer Ingelheim International GmbH. Funding National Institutes of Health (DK34818); Rossi Memorial Fund

P88-F Electromyographic findings in our cohort of patients with congenital muscular dystrophies and congenital myopathies

Introduction Congenital myopathies (CM) followed by Congenital muscular dystrophies (CMDs) are the most common muscular cause of floppy infant syndrome. It is well known that EMG pattern in both groups is similar, but it is recently described a characteristic association between peripheral neuropathy and some congenital muscular dystrophies. The objective of this presentation is to describe the EMG findings in our cohort. Material and methods We reviewed retrospectively charts and EMG studies of patients with genetically confirmed Cand CM followed in our Hospital in order to evaluate the pattern of EMG involvement. Results All patients showed proximal myopathic changes at EMG. Only one patient with DMC had spontaneous activity at rest (LAMA2). Three patients shared a mixed pattern: First patient with col VI myopathy showed a distal motor axonal neuropathy (similar to distal motoneuron disease), the second one with col VI myopathy displayed minor motor conduction abnormalities but with loss of motor unit at distal muscles and a third patient with LAMA2 Cexhibited isolated sensory motor desmyelinating findings. Conclusions In our cohort only 37% of Cpatients show association of neuropathy and myopathy at EMG. In patients with floppy infant syndrome we suggest to perform nerve conduction studies and needle EMG at proximal and distal muscles to evaluate the association between myopathy and motor neuropathy to achieve a correct electrodiagnosis. It will be interesting to perform longitudinal studies to know if neuropathy is a finding that develops during the follow up and if it depends on the type of genetic abnormality.

Lesions of the nervous system in children with type 1 diabetes mellitus (literature review)

This article provides an overview of the current literature on the most common complication of type 1 diabetes in children – diabetic neuropathy (DN). Diabetic neuropathy is a consequence of the widespread defeat of neurons and their processes in the central and peripheral nervous system due to metabolic, vascular and immune changes in diabetes and manifested in most children and adolescents with distal polyneuropathy and autonomic neuropathy. The mechanisms of the pathogenesis of the development of DN are discussed in the article, and it is noted that the clinical picture of DN is diverse and depends on the severity, nature of the lesion and the type of nerve fibers. The article deals with diagnostics, the criteria for diagnosis and treatment of DN.

Missense variant in TPI1 (Arg189Gln) causes neurologic deficits through structural changes in the triosephosphate isomerase catalytic site and reduced enzyme levels in vivo

Mutations in the gene triosephosphate isomerase (TPI) lead to a severe multisystem condition that is characterized by hemolytic anemia, a weakened immune system, and significant neurologic symptoms such as seizures, distal neuropathy, and intellectual disability. No effective therapy is available. Here we report a compound heterozygous patient with a novel TPI pathogenic variant (NM_000365.5:c.569G>A:p.(Arg189Gln)) in combination with the common (NM_000365.5:c.315G>C:p.(Glu104Asp)) allele. We characterized the novel variant by mutating the homologous Arg in Drosophila using a genomic engineering system, demonstrating that missense mutations at this position cause a strong loss of function. Compound heterozygote animals were generated and exhibit motor behavioural deficits and markedly reduced protein levels. Furthermore, examinations of the TPIArg189Gln/TPIGlu104Asp patient fibroblasts confirmed the reduction of TPI levels, suggesting that Arg189Gln may also affect the stability of the protein. The Arg189 residue participates in two salt bridges on the backside of the TPI enzyme dimer, and we reveal that a mutation at this position alters the coordination of the substrate-binding site and important catalytic residues. Collectively, these data reveal a new human pathogenic variant associated with TPI deficiency, identify the Arg189 salt bridge as critical for organizing the catalytic site of the TPI enzyme, and demonstrates that reduced TPI levels are associated with human TPI deficiency. These findings advance our understanding of the molecular pathogenesis of the disease, and suggest new therapeutic avenues for pre-clinical trials.

Parallels between lumbosacral radiculopathy and complex regional pain syndrome: α1-adrenoceptor upregulation, reduced dermal nerve fibre density, and hemisensory disturbances in postsurgical sciatica.

Residual lower-limb pain after low back surgery (postsurgical sciatica) and complex regional pain syndrome (CRPS) involving a lower limb are separate conditions but may share some mechanisms (eg, tissue inflammation, neuroimmune disturbances, and central neuroplasticity). As adrenergically evoked pain contributes, in part, to CRPS, whether an adrenergic mechanism also contributes to postsurgical sciatica was investigated in this study. Immunohistochemistry was used to identify α1-adrenoceptors (α1-AR) on nerve fibres and other targets in the affected and contralateral skin of 25 patients with postsurgical sciatica, and α1-AR expression was investigated in relation to pain and pinprick hyperalgesia after intradermal injection of the α1-AR agonist phenylephrine. In addition, quantitative sensory testing was performed on all 4 limbs and on each side of the forehead. α1-AR expression was greater in keratinocytes (but not blood vessels or nerve fibres) in the symptomatic than contralateral leg, and dermal nerve fibre density was reduced in both legs. However, distal adrenergic involvement in pain in postsurgical sciatica seems unlikely, as neither heightened α1-AR expression in keratinocytes nor reduced dermal nerve fibre density were associated with pain or hyperalgesia to intradermal phenylephrine injection. Sensitivity to pressure-pain, pinprick, and cold-pain was greater in the ipsilateral than contralateral forehead of the entire cohort, but sensory disturbances were most pronounced in patients with additional CRPS-like features. Together, these findings suggest that bilateral distal neuropathy and central neuroplastic changes are involved not only in the pathophysiology of CRPS but also in postsurgical sciatica. This may have treatment implications for patients with postsurgical sciatica.

Post-bariatric surgery peripheral neuropathies: Kuwaiti experience

BackgroundObesity is a major global health problem. Kuwait has a very high prevalence of obesity, and consequently, the number of bariatric surgeries is rising.ObjectivesThe aim of this study is to analyze the clinical presentation and electrodiagnostic features of peripheral nerve complications following bariatric surgery.Subjects and methodsWe retrospectively involved a convenience sample of patients presenting at a tertiary referral center and analyzed the patterns and frequency of peripheral nerve involvement, correlations with operative techniques, perioperative complications, nutritional status, possible risk factors, and functional impairment.ResultsAmong the 58 cases, 23 presented with chronic distal symmetrical sensorimotor neuropathy, 10 suffered from small fiber neuropathy, 22 had mononeuropathies, 2 patients had acute axonal sensorimotor neuropathy, and only 1 patient had lumbar plexopathy. In 22 patients, we observed mononeuropathies (10 cases of carpal tunnel syndrome, 7 cases of peroneal compression at the knee, 4 cases of ulnar neuropathies at the elbow, and 1 case of meralgia paresthetica). Rapid weight loss and protracted postoperative vomiting tended to correlate with generalized neuropathies, while focal compression with loss of the protective subcutaneous tissue pad was associated with mononeuropathies. All patients suffered from a deficiency of at least 1 micronutrient. Compliance with supplementary therapy was poor. Some post-bariatric neuropathies interfere severely with patients’ functional status.ConclusionPrevention by close follow-up, nutritional intervention, and patient education to avoid habitual postures related to nerve compression is appropriate.

A Waves in Diabetic Neuropathy: Pathophysiology and Neurographic Images.

To evaluate the presence of A waves in diabetic neuropathy, we designed a retrospective observational study recruiting patients with type II diabetes and chronic diabetic distal sensorimotor polyneuropathy. We recruited 238 patients of both sexes aged between 41 and 89 years. Neurography was undertaken on two bilateral upper (median and ulnar) and lower (peroneal and tibial) limb nerves. As controls, we considered that neurographs performed bilaterally on the same nerves of 40 healthy subjects. In addition to neurographic changes typical of chronic distal sensorimotor neuropathy, patients had a 32.77% incidence of A waves, mostly found in the tibial (16.38%) and peroneal (8.8%) nerves. Among controls, A waves were found only in the tibial nerve of a single subject (2.5%). Chi-square test with Yates correction to compare the two percentages (32.77% of patients and 2.5% of healthy subjects): 13.98, P = 0.0002, highly significant. We postulate that demyelination may be the site of backfiring or slowing of nerve conduction velocity, explaining the appearance of A waves in their different varieties. Implementing the search for A waves in routine neurographic examination can be a useful option for the diagnosis of neuropathy and the prediction of possible latent neuropathic processes.

Lumbosacral radicular pain during micturition, defecation or orgasm.

The objective of this study was to describe, in a cohort of patients followed for bladder, bowel or sexual dysfunctions, the occurrence of radicular pain during micturition, defecation and/or orgasm. The study included all patients referred in our neuro-urology department and who suffered from radicular pain before, during or after micturition, defecation and/or orgasm. Data included demographic and medical variables, urodynamic and perineal electromyographic diagnosis. A total of 30 patients (men: 70%, mean age 45.4±11.8,) complained of radicular pain before, during or after orgasm (51.4%), micturition (34.3%), or defecation (14.3%). In 30% of cases, radiculopathy was found and was predicted by micturition pain. Other pathologies were as follows: vertebral (16.5%), pelvis and sacral (16.5%), inflammatory central nervous system (10%) lesions and peripheral neuropathies (6.7%). Neurological level of injury was between the lumbar and the sacral level. All spinal cord lesions were lesions of the conus medullaris. Patients also complained of lower urinary tract symptoms (70%), sexual (63.3%) and bowel (60%) disorders. In most cases, the urodynamic diagnosis was neurogenic bladder with peripheral abnormalities and the electromyographic diagnosis was distal neuropathy. Radicular pain occurring during micturition, defecation or orgasm is a rare condition. The most common underlying lesion seems to be radiculopathy, from lumbar to sacral spine. The presence of these symptoms, in the absence of any known neurological condition, should suggest the practitioner a radiculopathy in most of the cases. In consequence, appropriate additional tests should be offered to these patients. Few data are available on sciatica during micturition, defecation or orgasm. This study underlines the need for appropriate tests if a patient complaint from this type of symptom. Indeed, the most common underlying lesion is a radiculopathy but can also be a lesion of conus medullaris.

Brain spectroscopy reveals that N-acetylaspartate is associated to peripheral sensorimotor neuropathy in type 1 diabetes

AimsEmerging evidence shows, that distal symmetric peripheral neuropathy (DSPN) also involves alterations in the central nervous system. Hence, the aims were to investigate brain metabolites in white matter of adults with diabetes and DSPN, and to compare any cerebral disparities with peripheral nerve characteristics. MethodsIn type 1 diabetes, brain metabolites of 47 adults with confirmed DSPN were compared with 28 matched healthy controls using proton magnetic resonance spectroscopy (H-MRS) in the parietal region including the sensorimotor fiber tracts. ResultsAdults with diabetes had 9.3% lower ratio of N-acetylaspartate/creatine (NAA/cre) in comparison to healthy (p < 0.001). Lower NAA/cre was associated with lower sural (p = 0.01) and tibial (p = 0.04) nerve amplitudes, longer diabetes duration (p = 0.03) and higher age (p = 0.03). In addition, NAA/cre was significantly lower in the subgroup with proliferative retinopathy as compared to the subgroup with non-proliferative retinopathy (p = 0.02). ConclusionsThe association to peripheral nerve dysfunction, indicates concomitant presence of DSPN and central neuropathies, supporting the increasing recognition of diabetic neuropathy being, at least partly, a disease leading to polyneuropathy. Decreased NAA, is a potential promising biomarker of central neuronal dysfunction or loss, and thus may be useful to measure progression of neuropathy in diabetes or other neurodegenerative diseases.

Chapter 12 - Upper extremity neuropathies

This chapter covers the electrodiagnostic (EDX) evaluation of upper extremity nerves and the brachial plexus. Carpal tunnel syndrome is the most common peripheral nerve disorder of the upper extremity. A number of techniques are used but there is no gold standard approach for its diagnosis. Needle EMG aids in the differentiation of proximal and distal median neuropathies. Ulnar neuropathy at the elbow and ulnar neuropathy at or distal to the wrist can be distinguished by EDX techniques. Radial neuropathy at the spiral groove has a specific EDX pattern. EDX assessment of proximal upper extremity nerve lesions such as brachial plexopathy is a valuable tool for exploring the diagnosis and differential diagnosis of this complex disorder.