Signs Of Polyneuropathy Research Articles

Central and Peripheral Nervous System Complications of Vasculitis Syndromes from Pathology to Bedside: Part 2-Peripheral Nervous System.

Peripheral nervous system vasculitides (PNSV) are a heterogeneous group of disorders with a clinical subset that may differ in prognosis and therapy. We provide a comprehensive update on the clinical assessment, diagnosis, complications, treatment, and follow-up of PNSV. Progress in neuroimaging, molecular testing, and peripheral nerve biopsy has improved clinical assessment and decision-making of PNSV, also providing novel insights on how to prevent misdiagnosis and increase diagnostic certainty. Advances in imaging techniques, allowing to clearly display the vessel walls, have also enhanced the possibility to differentiate inflammatory from non-inflammatory vascular lesions, while recent histopathology data have identified the main morphological criteria for more accurate diagnosis and differential diagnoses. Overall, the identification of peculiar morphological findings tends to improve diagnostic accuracy by defining a clearer boundary between systemic and non-systemic neuropathies. Therefore, the definition of epineurium vessel wall damage, type of vascular lesion, characterization of lymphocyte populations, antibodies, and inflammatory factors, as well as the identification of direct nerve damage or degeneration, are the common goals for pathologists and clinicians, who will both benefit for data integration and findings translation. Nevertheless, to date, treatment is still largely empiric and, in some cases, unsatisfactory, thus often precluding precise prognostic prediction. In this context, new diagnostic techniques and multidisciplinary management will be essential in the proper diagnosis and prompt management of PNSV, as highlighted in the present review. Thirty to fifty percent of all patients with vasculitis have signs of polyneuropathy. Neuropathies associated with systemic vasculitis are best managed according to the guidelines of the underlying disease because appropriate workup and initiation of treatment can reduce morbidity. Steroids, or in severe or progressive cases, cyclophosphamide pulse therapy is the standard therapy in non-systemic vasculitic neuropathies. Some patients need long-term immunosuppression. The use of novel technologies for high-throughput genotyping will permit to determine the genetic influence of related phenotypes in patients with PNSV.

Clinical neurological manifestations in patients suffering from peptic ulcer disease in the acute phase and in remission

Objective — to analyze clinical neurological manifestations in patients suffering from peptic ulcer disease in the acute phase and in remission, based on the findings of a comprehensive clinical neurological, neuropsychological and paraclinical study. Methods and subjects. 84 patients suffering from PUD were comprehensively examined while in the acute phase of the disease and then all 84 were reexamined while in remission. The age range of the patients was from 25 to 60 years. The average age of the patient was 39.90 ± 1.29 years. The examined individuals were destributed into two groups based on whether they presented symptoms of an acute phase or remission of the peptic ulcer disease. The comprehensive examination included: interview and complaint analysis, neurological examination focused on the state of the autonomic nervous system, study of the neuropsychological differences (the trait and state anxiety levels monitoring based on the Spielberg‑Khanin scale, depressive state evaluation using Beck Depression Inventory, self‑perceived health assessment, mood and activity monitoring using the SAN questionnaire, cognitive impairment evaluation using the MMSE scale, assessment of the refocusing speeds and performance distribution using Schulte tables), as well as lab tests and procedures. Results. Most often, subjects complained of headache (74 (88.0 %) in the acute stage and 37 (44.0 %) in remission). The second most common was a complaint of pain in the thoracic spine (69 (82.1 %) and 35 (41.6 %), respectively). Complaints of dizziness, pain in the heart, palpitations, «interruptions» in the heart, paresthesia were often recorded. In 11 (12.4 %) patients with duodenal ulcer in the acute stage experienced episodes of syncopal state, while in the remission stage they were absent. Complaints that indicated the presence of psychoemotional disorders were anxiety, decreased memory and attention, and sleep disturbances. In patients with duodenal ulcer disease we revealed lesions of the central and peripheral nervous system. Central nervous system disorders were manifested in the form of vestibulo‑cerebellar syndrome (in 30 (35.7 %) patients in the acute stage and in 14 (16.6 %) in the remission stage), extrapyramidal disorders (respectively in 10 (11.9 %) and 4 (4.76 %)) and signs of pyramidal dysfunction (37 (44.0 %) and 15 (17.8 %)). Clinical and neurological examination of the peripheral nervous system in 68 (80.9 %) patients with peptic ulcer in the acute stage and in 31 (36.9 %) in the remission stage revealed polyneuropathy syndrome of varying degrees. Signs of polyneuropathy were accompanied by complaints of disorders of the peripheral nervous system (45 (53.5 %) and 15 (17.8 %) cases, respectively). In 27.4 % of patients with peptic ulcer disease in the acute stage of the complaint were absent at all, and only a thorough neurological examination revealed signs of polyneuropathy. In 56 (66.6 %) patients with peptic ulcer disease in the acute stage and 28 (33.3 %) in the remission stage, the morbidity of paravertebral points in the lower thoracic spine was revealed. Conclusions. Having analyzed the data obtained through the interviews, as well as the neurological characteristics of patients with peptic ulcer disease of the duodenum in the acute phase and in remission it was concluded that most of the somatic complaints and neurological manifestations were common in both the acute phase and the remission of the disease. However, all of the identified neurological differences were significantly more common in the acute phase of the disease.

Substantiation of the use of indices of the heart rate variability in predicting the development of polyneuropathies in workers of coal enterprises

Introduction. One of the most common forms of occupational diseases of the peripheral nervous system is autonomic-sensory polyneuropathy. For Kuzbass, which is one of the leaders in coal mining, the problem of early diagnosis and prevention of polyneuropathies is the most urgent.The purpose of this study was to determine autonomic disorders and their role in the development of occupational polyneuropathy in workers of coal enterprises in Kuzbass.Material and methods. 72 male miners aged from 40 to 64 years with working experience from 15 to 36 years were examined. The control group consisted of 18 subjects of the same age, engaged in light physical or mental work that had no occupational risk factors. To assess the degree of peripheral nerve damage electroneuromyography was performed in all cases; indices of spectral and nonlinear heart rate variability were used to determine the state of autonomic regulation.Results. No signs of polyneuropathy were detected in 20 subjects of the examined workers of coal enterprises according to electroneuromyography data. The miners with diagnosed polyneuropathy were divided into 3 groups according to the severity of the lesion of the impulse conduction along the peripheral nerves. In the miners with no signs of polyneuropathy, who exposed to harmful production factors, a statistically significant decrease in the power of high-frequency oscillations of the heart rate variability spectrum was determined. The subjects with initial disorders of the impulse conduction showed a progressive decrease in high-frequency oscillations, with moderate signs of polyneuropathy, there were a sympathetic predominance and increased influence of suprasegmental autonomic centers. In the development of severe disorders of the impulse conduction along the peripheral nerves, depression of oscillations in all frequency ranges and rigidity of the heart rate are characteristic.Conclusion. The obtained data confirm the influence of autonomic dysfunction on the development of occupational polyneuropathy. The analysis of heart rate variability is an important tool for evaluating autonomic regulation and can be used in mass medical examinations. A decrease in spectral and nonlinear parameters in coal-mining workers is an early sign of the disorder of autonomic regulation, which allows predicting the occurrence and development of peripheral nerve damage.

Diabetic Distal Symmetrical Polyneuropathy: Correlation of Clinical, Laboratory, and Electrophysiologic Studies in Patients with Type 2 Diabetes Mellitus.

This cross-sectional study is aimed at determining the prevalence of distal symmetrical polyneuropathy (DSPN) and diabetic peripheral neuropathic pain (DPNP) in participants with type 2 diabetes mellitus (T2DM); finding the risk factors for DSPN and DPNP via biochemical tests; and correlating DSPN and DPNP with the results of electrophysiologic studies, quantitative sensory tests, and neurologic examination. The 145 participants with T2DM enrolled were divided into the DSPN (abnormal nerve conduction studies (NCS) with signs of polyneuropathy), subclinical DSPN (abnormal NCS without signs of polyneuropathy), minimal DSPN (normal NCS with signs of polyneuropathy), and no DSPN groups. The biochemical risk factors of diabetic peripheral neuropathy were investigated. Neurologic examinations, laboratory tests, NCS, vibration threshold tests, and thermal threshold tests were conducted. The modified Michigan Neuropathy Screening Instrument (mMNSI) and Douleur Neuropathique 4 were used to evaluate the severity of DSPN and DPNP, respectively. In all, 30% of participants had DSPN and 11% had DPNP. DSPN correlated strongly with male gender and higher glycohaemoglobin levels; NCS abnormality correlated with higher glycohaemoglobin levels; DSPN severity correlated with NCS of each stimulating nerve. DPNP commonly occurred with clinical and electrophysiologic evidence of DSPN. Symptomatic diabetic polyneuropathy significantly correlated with longer disease duration, higher glycohaemoglobin levels, and abnormal vibration tests. The thermal threshold test combined with nerve conduction tests could detect most of the patients with DSPN, subclinical DSPN, and minimal DSPN. Poor diabetic control was independently associated with the development of DSPN. DPNP was associated with DSPN. The combination of thermal threshold tests with NCS can potentially provide the diagnosis of DSPN.

Ultrasonographic measurement of the peroneal and tibial nerves in patients with rheumatoid arthritis with symptoms or signs of polyneuropathy: A cross-sectional study

Background: Drug toxicity, vasculitis, entrapment neuropathy, and amyloidosis are among the various different reasons of peripheral neuropathy in rheumatoid arthritis (RA). We aimed to determine the cross-sectional areas (CSA) of the peroneal and tibial nerves in patients with RA who had neuropathic symptoms, and to determine a cutoff value for peroneal and tibial nerves CSA by ultrasonography (USG) to diagnose polyneuropathy (PN) in patients with RA. Materials and Methods: Sixty-nine patients with RA and thirty healthy controls were included in this cross-sectional study. According to nerve conduction study (NCS) test, patients with RA were divided into two groups, diagnosed as having PN or not. Demographic data, laboratory findings, CSA of bilateral peroneal and tibial nerves, NCS values, and painDETECT (PD-Q) scores of all patients were assessed. Disease duration, disease activity score 28, duration of neuropathic symptoms, and Health Assessment Questionnaire of patients with RA were also determined. Results: No statistically significant difference was found among the groups in terms of age, gender, and laboratory findings. However, a statistically significant difference was found among these three groups in comparison with PD-Q, NCS values, and nerve CSA (P Conclusion: USG can be used as a noninvasive diagnostic modality in the assessment of RA-associated PN.

High body mass and kidney dysfunction relate to worse nerve function, even in adults without neuropathy.

Polyneuropathy is a prevalent and disabling disorder. Despite extensive evaluation, the cause often remains unknown. Factors that predispose for the development of polyneuropathy need to be identified. We investigated the effect of anthropometric and metabolic factors on peripheral nerve function in 908 participants of the population-based Rotterdam Study without any symptoms or signs of polyneuropathy. Participants underwent nerve conduction studies of the sural and peroneal nerve. Data on age, height, weight, waist circumference, diabetes, lipid levels, hypertension, and kidney function were collected. Regression analyses were used to investigate determinants of nerve action potential amplitudes. The frequency of abnormal sural sensory nerve action potential (SNAP) amplitudes increased with age from 1% under 60 years to 23% over 80 years. Similarly, the frequency of abnormal peroneal nerve compound motor action potential (CMAP) amplitudes increased from 4% to 13%. High weight and body mass index were independently associated with reduced sural SNAP amplitudes and peroneal CMAP amplitudes. Participants with hypertension and kidney dysfunction were more likely to have abnormal sural SNAP amplitudes. Older age, high weight, hypertension, and moderate kidney dysfunction might thus lead to peripheral nerve dysfunction in persons yet without symptoms or signs of polyneuropathy.

Assessing mNIS+7Ionis and international neurologists' proficiency in a familial amyloidotic polyneuropathy trial

Polyneuropathy signs (Neuropathy Impairment Score, NIS), neurophysiologic tests (m+7Ionis ), disability, and health scores were assessed in baseline evaluations of 100 patients entered into an oligonucleotide familial amyloidotic polyneuropathy (FAP) trial. We assessed: (1) Proficiency of grading neurologic signs and correlation with neurophysiologic tests, and (2) clinometric performance of modified NIS+7 neurophysiologic tests (mNIS+7Ionis ) and its subscores and correlation with disability and health scores. The mNIS+7Ionis sensitively detected, characterized, and broadly scaled diverse polyneuropathy impairments. Polyneuropathy signs (NIS and subscores) correlated with neurophysiology tests, disability, and health scores. Smart Somatotopic Quantitative Sensation Testing of heat as pain 5 provided a needed measure of small fiber involvement not adequately assessed by other tests. Specially trained neurologists accurately assessed neuropathy signs as compared to referenced neurophysiologic tests. The score, mNIS+7Ionis , broadly detected, characterized, and scaled polyneuropathy abnormality in FAP, which correlated with disability and health scores. Muscle Nerve 56: 901-911, 2017.

Acute debut of neuroacanthocytosis in clinical practice

Neuroacanthocytosis is a rare autosomal dominant disease, which in its clinical manifestation is characterized by choreiform hyperkinesis, mental and cognitive disorders, signs of polyneuropathy and cardiomyopathy, and the basis of the disease is presence of modified erythrocytes (acanthocytes) in peripheral blood. The disease is characterized by autosomal dominant type of inheritance (the gene was mapped on chromosome 9q21), sporadic cases are possible. Description of a clinical case of a 63-year old patient with neuroacanthocytosis delivered by an ambulance with a preliminary diagnosis of stroke is provided. The patient complained of severe general fatigue, whole body shivering, and involuntary compulsive uncontrollable movements in the limbs, body, and face. The patient noted changes in her voice, probably due to compulsive movements of her tongue, lightheadedness, and shaky walk. Almost all physical and laboratory findings were within normal. Taking into account acuteness of the disease, its attack at the time of hypertensive emergency and patient’s age, circular cause was suggested, computed tomography of the brain and magnetic resonance imaging were performed. The results of neuroimaging ruled out the pathology of cerebral circulation. Ultrasound of neck vessels revealed nothing abnormal. Purposeful repeated blood analysis revealed that 85% of erythrocytes were acanthocytes and after that the correct diagnosis was made. The peculiarities of this clinical case are acute manifestation of symptoms and relatively late debut of the disease.

ID 257 – The utility of the duration of sural nerve sensory action potential in classification of polyneuropathies

Objective To examine whether the duration of sural nerve sensory nerve action potential (SNAP) may be used for pathophyiological classification of polyneuropathies as axonal and demyelinating. Methods A total of 287 consecutive patients aged 18–91 years referred with the suspicion of polyneuropathy were included prospectively. The overall conclusion of nerve conduction studies was polyneuropathy in 157 patients whereas no signs of polyneuropathy were found in 130 patients. Of polyneuropathies, 39 were demyelinating, 56 axonal, 20 mixed and 42 unclassified according to ESTEEM criteria (Tankisi et al., 2005). Sural nerve was examined with near-nerve technique bilaterally in 279 patients and unilaterally in 8 patients. The duration of the sural SNAP was compared between polyneuropathy and no polyneuropathy groups and between different classifications of polyneuropathies using t -test. Results The mean duration of sural SNAP was 2.2 ± 1.4 ms for patients without signs of polyneuropathy and 4.52 ± 2.4 ms with polyneuropathy ( p p > 0.05). Conclusion Sural SNAP duration is prolonged in polyneuropathies but do not differ between different pathophysiological classifications. Key message Sural SNAP duration does not contribute in classification of polyneuropathies as axonal and demyelinating.

ID 106 – Pathophysiological classification of polyneuropathies in different aetiologies

Objective We aimed in this study to examine aetiologies and pathopysiological classification of patients referred for electrodiagnosis of polyneuropathy (PNP). Methods Clinical information and motor and sensory nerve conduction data of 291 patients consecutively referred for assessment of PNP were analysed retrospectively. The aetiological causes and clinical diagnoses were reviewed from patient files. The classification of PNPs were first done as sensory, motor and sensory-motor, and then further classified as axonal, demyelinating and mixed according to ESTEEM criteria (Tankisi et al., 2005). Results In 130 patients, no signs of PNP were found. In 161 patients, a sensory (21), motor (10) or sensory-motor (130) PNP was diagnosed. Of these, 42 were demyelinating, 56 axonal, 21 mixed and 42 unclassified. The aetiologies of PNPs were inflammatory (38), diabetic (23), hereditary (15), paraneoplastic (11), alcoholic (7), B12 deficiency (6), other (13) or idiopathic (48). Inflammatory PNPs were mostly demyelinating (74%), idiopatic PNPs axonal (50%) and diabetic PNPs unclassified (52%); however in the other groups, pathophysiological classifications were equally disturbed. Conclusion Demyelination guides the clinicians towards inflammatory PNPs. However, a broad spectrum of aetiological factors should be checked in other classifications. Key massage Electrophysiolological classification of PNP may provide invaluable information about the aetiology.

Near-nerve versus surface electrode recordings of sural nerve in patients with polyneuropathy

Objective To compare the sensitivity of sensory nerve conduction studies recorded with near-nerve technique (NNT) and surface electrodes in polyneuropathy. Methods A total of 566 sural nerves in 287 consecutive patients aged 18–91 years referred with the suspicion of polyneuropathy were studied prospectively. All nerves were examined with orthodromic NNT from lateral malleolus to sura and with antidromic surface recording from sura to lateral malleolus. The sensitivities were compared with chi-square statistics. Results The overall conclusion of NCSs was polyneuropathy in 157 and no signs of polyneuropathy were found in 130 patients. In patients with no polyneuropathy, sural nerve was normal both with surface electrodes and NNT in 254 (98%) of 258 sural nerves without any significant difference. In patients with polyneuropathy, surface recordings and NNT showed significant difference in 308 sural nerves examined ( p Conclusion Near-nerve recordings of the sural nerve are more sensitive than surface recordings in the diagnosis of polyneuropathy. Key message Near-nerve technique may be recommended in electrodiagnosis of polyneuropathy.

Peripheral neuropathy in patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency - A follow-up EMG study of 12 patients.

The neonatal screening and early start of the dietary therapy have improved the outcome of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD). The acute symptoms of LCHADD are hypoketotic hypoglycemia, failure to thrive, hepatopathy and rhabdomyolysis. Long term complications are retinopathy and neuropathy. Speculated etiology of these long term complications are the accumulation and toxicity of hydroxylacylcarnitines and long-chain fatty acid metabolites or deficiency of essential fatty acids. To study the possible development of polyneuropathy in LCHADD patients with current dietary regimen. Development of polyneuropathy in 12 LCHADD patients with the homozygous common mutation c.G1528C was evaluated with electroneurography (ENG) studies. The ENG was done 1-12 times to each patient, between the ages of 3 and 40 years. Clinical data of the patients were collected from the patient records. The first sign of polyneuropathy was detected between the ages of 6-12 years, the first abnormality being reduction of the sensory amplitudes of the sural nerves. With time, progression was detected by abnormalities in sensory responses extending to upper limbs, as well as abnormalities in motor responses in lower limbs. Altogether, eight of the patients had polyneuropathy, despite good compliancy of the diet. This study is the first to report the evolution of polyneuropathy with clinical neurophysiological methods in a relative large LCHADD patient group. Despite early start, and good compliance of the therapy, 6/10 of the younger patients developed neuropathy. However, in most patients the polyneuropathy was less severe than previously described.

Hereditary transthyretine amyloidosis in Slovenia

The prevalence of transthyretin (TTR) amyloidosis in Europe is supposed to be less than one per 100,000 individuals. Slovenia is a rather small country with approximately two million inhabitants and we know of two families with 4 patients with this disease. The first patient (family A) was diagnosed in 2008 when also one of the asymptomatic family members who agreed to molecular genetic testing was found to be a carrier. Other family members up to now disagreed with clinical, laboratory and molecular genetic testing. Patients from family B were diagnosed in 2014. Their siblings were found not to be carriers. The index case from family A was diagnosed at the age of 54. The TTR gene mutation was characterised as Val122Ala. First symptoms were due to dysautonomia and appeared 4 years earlier in the form of abdominal colic associated with vomiting and orthostatic hypotension. He also had symptoms and signs of length-dependent axonal polyneuropathy and hypertrophic restrictive cardiomyopathy. He died the day after liver transplantation. The disease of the family's B index case started approximately one and a half year before the diagnosis with pain in his feet, orthostatic hypotension, sexual impotence, diarrhoea alternating with constipation, and weight loss. Later on he also noticed weakness in his lower limbs but is still able to walk unaided. The Val30Ala mutation was found. Except to polyneuropathy no other organs are affected. He is treated with tafamidis. His sister is asymptomatic but is having electrophysiological signs of polyneuropathy and cardiac vagal denervation. She recently also started taking tafamidis. With increasing awareness of the transthyretin amyloidosis, especially amongst neurologists and cardiologists in our country, we expect to find some more patients in the near future, particularly among members of the affected families. Two other unrelated patients are currently undergoing testing, one of them with transthyretin amyloid tissue deposits.

Causes of сritical illness polyneuropathy in adults after cardiac surgery

Background: Critical illness polyneuropathy (CIP) is the most common complication of peripheral nervous system after cardiac surgery. Тhe aim of the research was to determine the cause of critical illness polyneuropathy in the patients who had operations on the heart. Material and methods: The study included 55 patients (32 men, 23 women) who underwent of surgery on the heart with cardiopulmonary bypass. Patients underwent coronary artery bypass grafting in 52.7% of cases; reconstructive surgery on the heart valves in 47.3% of cases. Patients had characteristics comparable age and sex. All patients used Sevaran as anesthesia. All patients were assessed preoperative, intraoperative and postoperative characteristics. Stimulation EMG was performed before the operation and on the 7th day after surgery. Estimated amplitude of the M-response to the speed of motor and sensory fibers, F-wave. Results: 15 patients (7 - men, 8 - women) after heart surgery debuted сritical illness polyneuropathy confirmed by EMG. Patients with signs of polyneuropathy in the postoperative period in 100% of cases had multiple organ failure syndrome and systemic inflammatory response, (p < 0,01). These patients were longer in the intensive care unit, (p < 0,05), longer they were held ventilation, more often required inotropic support, (p < 0,05) and more likely to suffer pneumonia, (p < 0,05). Conclusions: Critical illness polyneuropathy can develop in patients that have undergone heart surgery with cardiac bypass as the result of multiple organ injury syndrome and systemic inflammation response syndrome. Comorbidity background, types of heart surgery, the technique of surgical intervention, especially of anesthetic, duration of respiratory care, inotropic support and sedation are not the cause of critical illness polyneuropathy in patients undergoing heart surgery.

P193. Small fiber neuropathy after lightning injuries

Introduction Survivors of lightning injuries suffer from several acute or delayed neurological symptoms. As a delayed complication chronic pain syndrome and signs of polyneuropathy are common. Methods We examined 3 patients (2 male, 1 female) with clinical symptoms of parenthesis, chronic pain syndrome or other sensible sensations appearing after lightning injury in healthy patients before. Added to complete neurological work up, including electrophysiological examination and quantitative sensory testing (QST), biopsy of the skin in affected area was performed and prepared for histological examination. Results Affection of peripheral nervous system was frequent, as were chronic pain syndroms. Reduction of temperature reception could be seen in quantitative sensory testing. Results correlated with founded consistent histological pattern of a small fiber neuropathy with reduction of density of intraepidermal nerve fiber in all patients. Conclusion Next to electrophysiological examination biopsy of affected skin can help to objectify polyneuropathic sensations as a common effect of lightning strike.

6. Amyloidosis affecting nervus radialis. Case report

Polyneuropathy due to amyloidosis (a symmetric distal sensitive and motoric polyneuropathy with frequent pain) is being described as a possible cause of systemic amyloidosis in literature. Actually, neurologists see this relatively rarely. Impairment of single nerve caused by amyloidosis is even rarer. That’s why we devote our case report to this unusual condition. We report about 55 year old woman, who has been experiencing gradually progressive sensitive and motoric impairment caused by affected nervus radialis on right upper extremity for 7 years. EMG (done in 2/2010) verified chronic syndrome of partial denervation of m. extensor digit. comm. and m. brachioradialis on right upper extremity, and no SNAP on r. superficialis n. radialis and blockade in motoric fibres of n. radialis on upper right extremity. MR showed spindle expansion 6 centimetres long in the course of n. radialis of right upper extremity. Neurofibroma was mentioned in differential diagnosis. An operation was done in May 2010 and some formation was removed from the nerve. During second operation there was performed a substitution with graft from n. suralis. Histologically was proven amyloidosis. Subsequently, a complete internal investigation focusing on amyloidosis was performed, including rectal, liver, bucal mucosal membrane and bone marrow biopsy, everything was negative for amyloidosis. Patient now is recovering and rehabilitating with gradual improving of her condition and is being observed by neurologist, internal physician, neurosurgeon and EMG specialist. No signs of polyneuropathy or systemic amyloidosis have yet shown. EMG is in gradual regression. N. radialis is most frequently affected by trauma, or by inner or outer pressure, iatrogenous or by benign tumour. Local affecting by amyloidosis is extremely rare.

P5.2 Diagnosis of early myelin involvement in diabetes as first sign of polyneuropathy: single fiber conduction velocity test

P5.2 Diagnosis of early myelin involvement in diabetes as first sign of polyneuropathy: single fiber conduction velocity test

Electrophysiological assessment of polyneuropathic involvement in rheumatoid arthritis: relationships among demographic, clinical and laboratory findings

Objectives: The aims of this study were to electrophysiologically evaluate polyneuropathy in rheumatoid arthritis (RA) patients and to examine the relationships among polyneuropathy and demographic, clinical and laboratory findings.Patients and methods: Sixty consecutive patients (51 women and nine men) with a clinical diagnosis of RA were examined electrophysiologically for the evidence of polyneuropathy. Parameters including age, gender, subcutaneous nodules, erosions, joint deformities, laboratory parameters, duration of RA, as well as dose, duration and type of disease modifying anti-rheumatic drug (DMARD) and steroid usage were recorded. RA activity was assessed using a 28-joint disease activity score (DAS28). The functional status of patients was measured using the health assessment questionnaire (HAQ). The symptoms and signs of polyneuropathy were quantified using the neuropathy symptoms score (NSS) and the neuropathy disability score (NDS), respectively.Results: Ten patients (17%, eight women and two men) had polyneuropathic involvement as defined by nerve conduction studies (NCS). Two patients had mild symmetric sensory neuropathy and eight patients had mild symmetric sensorimotor axonal polyneuropathy. There was no significant difference in age, gender, subcutaneous nodules, erosions, joint deformities, rheumatoid factor, as well as dose, duration and type of DMARD and steroid therapy administered. We found a significant relationship among polyneuropathy and duration of RA, DAS28, HAQ, as well as abnormal NSS and NDS values. The durations of RA and DAS28 were also associated with a four- and three-fold increase in the risk of polyneuropathy, respectively.Conclusion: Mild symmetric sensory or sensorimotor axonal polyneuropathies are common in RA patients and it is difficult to distinguish the symptoms of polyneuropathy from those of arthritis. An electrophysiological examination should be routinely carried out especially when patients have had a long disease duration and high scores for DAS28, HAQ, NSS and NDS.

Aspects of peripheral nerve involvement in patients with treated hypothyroidism

We studied involvement of large and small nerve fibres in patients with hypothyroidism and symptoms and signs of polyneuropathy. Sixteen patients with established diagnosis of hypothyroidism were extracted from a patient population participating in a 'polyneuropathy study'. In addition, seven patients with other additional potential causes of polyneuropathy than hypothyroidism were investigated. The patients underwent neurological examination, routine blood tests, nerve conduction studies (NCS), quantitative sensory testing (QST) and skin biopsies with assessment of intraepidermal nerve fibre (IENF) density. Sixty-three per cent of the patients with 'pure' hypothyroidism had abnormalities on NCS, 25% had reduced IENF density and 31% had abnormalities on QST. Four patients (25%) met criteria for small fibre polyneuropathy, the other (75%) were classified as having mixed fibre polyneuropathy. There were no differences in the amount of abnormalities on NCS, QST and skin biopsy between patients with hypothyroidism and those with hypothyroidism and other potential causes of polyneuropathy. The majority of patients with hypothyroidism had involvement of both large and small nerve fibres. However, some patients had isolated small fibre polyneuropathy. Patients with 'pure' hypothyroidism had essentially the same degree of peripheral nerve fibre involvement as those with other additional causes of polyneuropathy.

Charcot–Marie–Tooth disease type 2J with MPZ Thr124Met mutation: clinico-electrophysiological and MRI study of a family

The purpose of the present study was to describe clinico-electrophysiological features and lower limb muscle MRI findings in a CMT2J pedigree due to MPZ Thr124Met mutation. We examined the proband, aged 56 years, and her affected daughter and son, aged 30 and 29 years. Disease severity in terms of ability to walk and run was established using a nine-point functional disability scale (FDS). We administered the CMT neuropathy score (CMTNS) based on patient's symptoms, neurologic examination and neurophysiologic testing. All three patients had non-symptomatic Adie's pupil. The proband and her son presented with late-onset lower limb sensorimotor neuropathy and pes cavus; the proband's daughter had no signs of polyneuropathy. FDS score was 4 in the proband, 2 in her son, and 0 (normal) in her daughter. In both symptomatic patients, electrophysiological study showed a pattern of length-dependent axonal neuropathy mainly involving lower limb nerves; this was normal in the other patient. CMTNS was 18 in the proband, 12 in her son, and 0 (normal) in her daughter. MRI of foot and leg musculature was normal in the proband's daughter, whereas the other two patients showed massive fatty atrophy of intrinsic foot musculature, extensive and diffuse fatty atrophy of leg muscles in the proband, and mild distally accentuated fatty infiltration of calf muscles in her son. Muscle edema, detected only in the proband's son, was present in 7 out of 22 (33%) of visualized leg muscles, whereas contrast enhancement occurred in 6 of them. The reported mutation may manifest with either isolated Adie's pupil or pupil abnormalities with late-onset sensorimotor length-dependent axonal polyneuropathy, though the presence of pes cavus might indicate an earlier onset. MRI examination helps to delineate an accurate extent of muscle involvement in the disease.