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Background and purpose Charcot-Marie-Tooth (CMT) disease, an untreatable hereditary polyneuropathy, may mimic chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), a treatable neuropathy. Methods In this retrospective study, we analyzed the characteristics of CMT patients misdiagnosed as CIDP at 16 university hospitals in three countries, compared these patients with a reference group of CIDP patients, and estimated the cost of misdiagnosis. Results Among 1104 CIDP cases, we identified 35 CMT patients misdiagnosed as CIDP (3.2%). All were initially diagnosed with definite or probable CIDP (European Federation of Neurological Societies/Peripheral Nerve Society criteria), and mutations in PMP22, MPZ, and 10 other CMT genes were found in 34%, 31%, and 35% of cases, respectively. In comparison with a reference group of 35 CIDP patients, CMT patients were younger (median age at disease onset = 39 vs. 56 years) and more frequently had motor weakness at disease onset (80% vs. 29%), hearing loss (14% vs. 0%), normal brachial plexus imaging (70% vs. 40%), lower cerebrospinal fluid protein content (median = 0.5 vs. 0.8 g/L), and lower treatment response (20% vs. 69%). Treatment cost in these 35 misdiagnosed patients was estimated at 4.6 million euros (M€), whereas the cost of CMT genetic analysis in 1104 patients was estimated at 2.7 M€. Conclusions In this study, 35 of 1104 (3.2%) patients initially diagnosed with CIDP had CMT. Importantly, the cost of treating these 35 misdiagnosed patients was significantly higher than the cost of performing CMT genetic analysis in 1104 patients (4.6 M€ vs. 2.7 M€), suggesting that CMT genetic investigations should be more widely used before diagnosing CIDP.

Shoulder pain or paresis should be assessed carefully, as there are many possible causes, which can be osteoarticular, degenerative, inflammatory, or neurological. Weakness or pain can be related to cervicobrachialgia, plexitis, or focal mononeuropathy. The clinical picture should identify any muscular or mechanical origin of paresis responsible for pseudo-paretic functional limitation. Neurogenic scapulalgia with functional deficit implies the compression or entrapment of a nerve trunk including the axillary, long thoracic, accessory, suprascapular, or dorsal scapular nerves. Nerve conduction study and myography together with medical imaging help to identify the relevant etiology. Treatment mostly includes pain relief and physiotherapy, but surgery is rarely necessary.L’épaule douloureuse ou parétique est d’appréhension délicate et de causes variées : ostéoarticulaire, dégénérative, inflammatoire ou neurologique. La faiblesse ou la douleur peuvent être liées à une cervicobrachialgie, une plexite ou une mononeuropathie focale. Le tableau clinique doit distinguer une parésie d’origine musculaire ou mécanique responsable alors d’une limitation fonctionnelle pseudo-parétique. Une scapulalgie déficitaire neurogène implique la recherche d’une mononeuropathie d’enclavement ou compressive d’un tronc nerveux, axillaire, long thoracique, accessoire du XI

chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) has been widely described during the last quarter of the twentieth century. The last 20 years have seen decisive progress in its understanding. The diagnostic criteria have been simplified and the steps of the diagnostic process have been clarified. The phenotypic contours of the disease are now well known, as are the diagnostic pitfalls. From a pathophysiological point of view, the discovery of autoantibodies directed against nodal and paranodal proteins has been a major advance, although it concerns only a minority of patients. These discoveries have a major impact on the therapeutic management of these patients, often suffering from a very active form of the disease. The next 20 years will surely see a further deepening of knowledge about this fascinating disease.La polyradiculoneuropathie inflammatoire démyélinisante chronique est une entité largement décrite au cours du dernier quart du 20

Muscle diseases or myopathies have heterogeneous clinical presentations and etiologies. The principal sign is muscular weakness, whose distribution can help diagnostic orientation. Exercise intolerance, even without weakness at rest, can indicate an underlying myopathy. An isolated CK elevation can have multiple causes, but its persistence after a period of rest can point towards a subclinical myopathy. Isolated myalgia, especially at rest, are usually not associated with muscle disease. If the suspicion of myopathy is high, the patient will be assessed by a neurologist trained in muscle disorders, with correlation of clinical and neurophysiological findings, muscle imaging and, if indicated, muscle biopsy and genetic analysis. Cardiac and respiratory assessments are mandatory if a myopathy is suspected.Les myopathies sont d’étiologie et de présentation hétérogènes. Le signe principal est la faiblesse musculaire, dont la distribution peut orienter le diagnostic. L’intolérance à l’effort, même isolée, peut indiquer une myopathie, en particulier métabolique. Une élévation isolée des créatines kinases (CK) peut avoir des causes multiples mais la persistance d’une valeur anormalement élevée au repos peut être un indice de myopathie subclinique. Les myalgies isolées, notamment au repos, ne sont en général pas associées aux myopathies. Si la suspicion de myopathie est retenue, le patient sera évalué par un neurologue expert en pathologie musculaire, pour complément d’explorations par bilan neurophysiologique (ENMG (électroneuromyographique)), imagerie musculaire et biopsie musculaire ou analyse génétique. Les bilans cardiaque et respiratoire sont indispensables dans tous les cas.

Muscle cramps are very common and can reduce quality of life. There are multiple causes, including some physiological conditions, metabolic, endocrine, vascular disorders or neuromuscular diseases. Adequate management first requires differentiating cramps from other muscular phenomena. In most cases, the investigations are limited to a comprehensive history and clinical examination, but a biological, radiological and/or electrophysiological work-up may be useful. Treatment, when needed, is most often symptomatic and is unfortunately based on little evidence.Les crampes musculaires sont fréquentes dans la population générale avec, dans certains cas, une altération importante de la qualité de vie. Leur cause est très variée, pouvant être en lien avec certaines conditions physiologiques ou avec des troubles métaboliques, endocriniens, vasculaires ou neuromusculaires. Une prise en charge adéquate nécessite dans un premier temps de différencier les crampes d’autres phénomènes musculaires. Dans la plupart des cas, les investigations se limitent à une anamnèse et un examen clinique, mais un bilan biologique, radiologique et/ou électrophysiologique peut être parfois indiqué. Le traitement, si nécessaire, est le plus souvent symptomatique et repose malheureusement sur peu d’évidences scientifiques.

Amyotrophic lateral sclerosis (ALS) is the most common motor neuron disease of the adult age. It is an aggressive condition with a mean disease duration of only 3 to 5 years, characterized by progressive weakness and atrophy of limb, bulbar, and respiratory muscles. In general, death is caused by chronic hypoventilation due to respiratory insufficiency. No causal treatment is known today, but the two therapeutic agents authorized in Switzerland for the treatment of ALS can slow disease progression significantly. Other important therapeutic strategies include invasive/non-invasive ventilation, pain therapy, as well as physio-, ergo- and speech therapy on a regular basis.La sclérose latérale amyotrophique (SLA) est la maladie du motoneurone la plus fréquente de l’adulte. C’est une maladie sévère (la survie moyenne est d’environ 3 à 5 ans), caractérisée par une dégénérescence des premier et deuxième motoneurones. Elle se manifeste par un déficit moteur amyotrophiant progressif des membres, de la langue, des muscles bulbaires et respiratoires. En général, le décès est causé par une hypoventilation chronique. Il n’existe actuellement aucun traitement curatif. Les deux médicaments autorisés en Suisse peuvent ralentir significativement la progression de la maladie et plusieurs nouvelles molécules sont à l’essai. Les traitements non médicamenteux/symptomatiques constituent le deuxième pilier de la prise en charge : ventilation non invasive, traitement des symptômes bulbaires, stabilisation du poids, physio et ergothérapie.

Small fiber neuropathies affect small, poorly myelinated sensory Aδ and amyelinated C autonomic fibers. Neuropathic pain is often the main symptom. Positive diagnosis is based on the presence of deficient thermo-algesic sensory signs and/or dysautonomic signs with normal neurography. Several tests help to confirm the involvement of small fibers, ranging from simple tests such as the sympathetic skin response to skin biopsy, which measures the density of intraepidermal nerve fibers. The availability of these different tests varies greatly from one center to another. There are multiple etiologies, from rare genetic causes to the more frequent acquired dysimmune or metabolic causes. However, in more than half of the cases, no etiology is identified.Les neuropathies des petites fibres touchent les petites fibres peu myélinisées sensitives Aδ et amyéliniques C autonomes. La douleur neuropathique est souvent le symptôme principal. Le diagnostic positif repose sur la présence de signes sensitifs thermo-algiques déficitaires et/ou de signes dysautonomiques avec des neurographies normales. Plusieurs examens aident à confirmer l’atteinte des petites fibres, allant de tests simples comme la réponse cutanée sympathique à la biopsie de peau qui mesure la densité des fibres nerveuses intra-épidermiques. L’accessibilité de ces différents examens est très variable d’un centre à l’autre. Les étiologies sont variées, des causes génétiques rares aux causes acquises dysimmunes ou métaboliques plus fréquentes. Toutefois, dans plus de la moitié des cas, aucune étiologie n’est retrouvée.

Although multifocal motor neuropathy (MMN) is now recognized as a distinct, albeit rare, neurological condition, the path to its recognition was long and winding. This article provides an insight into the medical history of MMN “patient zero” and the first scientific publication that led to the recognition of MMN by the medical community. Multifocal motor neuropathy is nowadays recognized as a disease that produces asymmetric muscle weakness and cramping, with spontaneous motor unit activity (fasciculations and myokymia) but without sensory disorder. From an electrophysiological point of view, the neuropathy is characterized by persistent conduction blocks that usually initially affect the proximal upper extremity. The path to recognizing this rare entity was long and winding. In this article, we describe the first known patient suffering from this disease and the scientific context of its emergence, leading to the first publication on the subject, written by Gérard Roth (1923–2006) and his colleagues at the Neurology Department of Geneva University Hospital (Switzerland) [Eur Neurol. 1986;25(6):416–23].

Objective Motor unit number index (MUNIX) is proposed to monitor neuromuscular disorders. Our objective is to determine the intra-individual variability over time of the MUNIX. Methods In 11 different hospital centres, MUNIX was assessed twice, at least 3 months apart (range 90–360 days), in tibialis anterior (TA), abductor pollicis brevis (APB), abductor digiti minimi (ADM) and deltoid muscles in 118 healthy subjects. MUNIX sum score 2, 3 and 4 were respectively the sum of the MUNIX of the TA and ADM, of the TA, APB and ADM and of the TA, APB, ADM and deltoid muscles. Results The repeatability of the MUNIX was better for sum scores than for single muscle recordings. The variability of the MUNIX was independent of sex, age, interval between measurements and was lower for experienced than non-experienced operators. The 95th percentile of the coefficient of variability of the MUNIX sum score 2, 3 and 4 were respectively 22%, 18% and 15% for experienced operators. Conclusions The MUNIX technique must be performed by experienced operators on several muscles to reduce its variability and improve its reliability. Significance A variation of the MUNIX sum score ≥20% can be interpreted as a significant change of muscle innervation.

Objectives To evaluate the sensitivity and specificity of the latency difference (DLat) between ulnar and median nerves of the arm after stimulation at the wrist; one of the easiest techniques proposed for recognizing ulnar neuropathy at the elbow (UNE). As latency difference is not a standardized technique, we set up a multicenter study to recruit large numbers of normal subjects and patients with UNE or generalized neuropathy. Methods Six centers participated in the study with data obtained from three groups of participants, controls (CTRLs), patients with UNE and patients with generalized neuropathy (GNP). We first verified the anatomical superposition of the ulnar and median nerves in cadaver examination. The optimal recording site for these two nerves was found to be 10 cm above the medial epicondyle. We then standardized the position of the arm with full extension of the elbow and stimulated first the median and then the ulnar nerves at the wrist. CTRLs were examined on both arms at two consecutive visits. Results We recorded 32 idiopathic UNE cases, 44 GNP patients and 62 controls. We demonstrated that a DLat cut-off value of 0.69 ms brings a sensitivity of 0.86 and specificity of 0.89 to discriminate CTRLs from UNE. We also validated that intra-examiner reproducibility was good. Conclusion We report a lower normal value for DLat than reported in several non-standardized studies and CTRL and UNE groups have clearly separated DLat values. Significance Due to its high sensitivity, our standardized technique could be used as a first-line diagnostic tool when UNE is suspected.

We studied the clinical, electrophysiological, and pathological features, outcome, and frequency of anti-tumor necrosis factor alpha (a-TNF) medications-induced neuropathies (ATIN) in patients with inflammatory disorders. Of 2,017 patients treated with a-TNF medication, 12 patients met our inclusion criteria for a prevalence of 0.60% and an incidence of 0.4 cases per 1,000 person-years. The median time from a-TNF medication treatment to ATIN was 16.8 months (range 2-60 months). Six patients had focal or multifocal peripheral neuropathies. The other six had generalized neuropathies. For all, a-TNF medication was stopped. Seven patients received immunoglobulin infusions. ATIN outcome was favorable in all but one patient. ATINs are rare and heterogeneous neuropathies. In 10 patients, the neuropathy was "inflammatory", suggesting that it could be due to systemic pro-inflammatory effects of a-TNF agents.

Introduction Nous decrivons une serie de 7 patients horlogers presentant une dystonie focale du membre superieur, du cou ou de la face. Objectifs Decrire et analyser les particularites semiologiques des dystonies focales de l’horloger. Patients et methodes Il s’agit d’un travail retrospectif regroupant des patients adresses en consultation dystonie entre janvier 2008 et janvier 2016. Tous les patients ont ete explores du point de vue clinique, electromyographique et morphologique (IRM cerebrale). Les particularites semiologiques en lien avec l’activite professionnelle (gestuelle professionnelle, poste de travail) ont ete analysees de maniere standardisee. La reponse clinique au traitement par injections de toxine botulinique sous guidage electromyographique a ete evaluee. Resultats Sept patients (3 hommes, 4 femmes) d’âge moyen de 46 ans, ont ete inclus. Les patients presentaient une dystonie cervicale a forme tremblante ( n = 3) et non tremblante ( n = 1), un spasme hemifacial ( n = 1), une dystonie du membre superieur proximale ( n = 1), et distale ( n = 1). Pour 5 patients, l’installation de la dystonie etait directement liee a des facteurs professionnels (utilisation du micros, position de travail a l’etabli, microscope binoculaire). Six patients ont bien repondu au traitement. Discussion Des particularites semiologiques en lien avec l’activite professionnelle ont ete mises en evidence dans notre serie. Cela amene a evoquer le cadre nosologique de dystonie de fonction de l’horloger. Aucune particularite n’a ete observee concernant la reponse au traitement par toxine botulinique. L’adaptation du poste de travail ou du materiel technique a contribue a l‘amelioration clinique. Conclusion Ce travail conduit a proposer le concept de dystonie de fonction de l’horloger. Ce potentiel cadre nosologique ne dispense pas de la recherche des causes habituelles de dystonies focales.

International audience; The aims of this study were to describe the spectrum of recessively inherited POLG-related disorders, to report new POLG mutations and to discuss genotype-phenotype correlations in order to propose a strategy for diagnosis. Twenty eight patients diagnosed with two POLG mutations at 12 tertiary European centers of adult neurology were studied. Exhaustive phenotypic data, brain MRI, muscle analysis, mitochondrial DNA and POLG analysis findings were collected. Five distinct phenotypes were observed: Sensory Ataxic Neuropathy, Dysarthria and Ophthalmoparesis (SANDO), autosomal recessive Progressive External Ophthalmoplegia (arPEO), Spino Cerebellar Ataxia with Epilepsy (SCAE), Mitochondrial Neuro Gastro Intestinal Encephalopathy (MNGIE)-like phenotype and Sensory Ataxic Neuropathy with Ophthalmoparesis but without dysarthria which we propose to name SANO. An increasing gradient of functional severity was appreciated from PEO with the best prognosis, to SANO, SANDO and finally SCAE respectively. Four new missense mutations were found. Regarding genotype/phenotype correlations, P587L mutation was associated with SANO rather than with SANDO (p

Results After her double transplantation, the patient reported over the 8 subsequent years slowly progressive increasing pain and loss of sensation in the feet, slow bowel habit, and delayed urine flow. On examination, we found orthostatic hypotension, sensory loss, muscle weakness, and mild atrophy in the distal lower extremities with reduced Achilles tendon reflexes. Nerve conduction studies revealed a mild decrease of amplitude of motor and absent sensory action potentials and normal velocities except for bilateral slowing within the carpal tunnels. The sympathetic skin response and Sudoscan responses to electrical stimuli was normal in the palms but not in the soles. No complications were seen, such as acute rejection, portal vein thrombosis, or infectious diseases resulting from administration of immunosuppressive drugs.

Resume Introduction Le demembrement des ataxies cerebelleuses autosomiques recessives (ARCA) est actuellement possible par une correlation phenotype-genotype. L’orientation initiale est fonction des signes associes a l’ataxie. Observations Deux freres ont developpe une ataxie cerebelleuse avec une polyneuropathie amyotrophiante severe evoquant une neuropathie de type Charcot-Marie-Tooth, les confinant des l’adolescence au fauteuil roulant. L’examen a aussi mis en evidence une apraxie oculaire. La biopsie surale demontra une deperdition des fibres nerveuses de tous calibres, a l’exception des fibres non myelinisees, et le bilan biologique une hypercholesterolemie avec une hypoalbuminemie. L’analyse moleculaire a permis d’identifier une mutation homozygote W279X du gene APTX, responsable de l’ataxie avec apraxie oculomotrice de type 1 (AOA1). Conclusions Ces observations permettent de discuter du phenotype AOA1 et du diagnostic differentiel des ARCA, base sur la presence ou non d’une neuropathie peripherique, dont les causes restent a determiner.

Background: Periodic paralysis is classified into hypokalemic (hypoPP) and hyperkalemic (hyperPP) periodic paralysis according to variations of blood potassium levels during attacks. Objective: To describe new mutations in the muscle sodium channel gene SCN4A that cause periodic paralysis. Methods: A thorough clinical, electrophysiologic, and molecular study was performed of four unrelated families who presented with periodic paralysis. Results: The nine affected members had episodes of muscle weakness reminiscent of both hyperPP and hypoPP. A provocative test with potassium chloride was positive in two patients. However, repeated and carefully performed tests of blood potassium levels during attacks resulted in normal potassium levels. Remarkably, two patients experienced hypokalemic episodes of paralysis related to peculiar provocative factors (corticosteroids and thyrotoxicosis). Similarly to hyperPP, electromyography in nine patients revealed increased compound muscle action potentials after short exercise and a delayed decline during rest after long exercise as well as myotonic discharges in one patient. With use of molecular genetic analysis of the gene SCN4A, three new mutations were found affecting codon 675. They resulted in an amino acid substitution of a highly conserved arginine (R) to either a glycine (G), a glutamine (Q), or a tryptophan (W). Interestingly, hypoPP is caused by both mutations affecting nearby codons as well as the change of an arginine into another amino acid. Conclusion: A potassium-sensitive and normokalemic type of periodic paralysis caused by new SCN4A mutations at codon 675 is reported.

Peripheral neuropathic pain syndromes (PNPS) are difficult to treat because commonly used analgesics are often ineffective when, for example, touch-evoked allodynia, hyperalgesia, and pain paroxysms are present. To investigate whether lidocaine patch 5% treatment is also effective in postherpetic neuropathy (PHN) and in other PNPS, 40 patients with various forms and localizations of PNPS completed a prospective, randomized, placebo-controlled, two-way, cross-over study in three medical hospitals. Patients suffering from pain in a localized skin area with intensity above 40 mm visual analog scale (VAS) and a stable consumption of pain medication were included in this study. The study was divided into four phases: 3-day run-in phase, treatment phase 1, wash-out period, and treatment phase 2, each lasting 1 week. At the discretion of the patients, up to four patches (covering a maximum of 560 cm 2 ) were applied onto the maximally painful area for 12 consecutive hours daily, always either by day or at night. Throughout the four phases, ongoing pain, allodynia, quality of neuropathic symptoms, quality of sleep, and adverse events were assessed. When, after the wash-out period, the pain intensity scores did not return to the pre-treatment values (±20%), these patients were excluded from the study. The present study revealed that, as an add-on therapy, the lidocaine patch 5% was clearly effective in reducing ongoing pain ( P =0.017) and allodynia ( P =0.023) during the first 8 h after application and that the patches also worked well over a period of 7 days ( P =0.018) in diverse focal PNPS. Calculation of the numbers needed to treat (NNT) to obtain one patient with more than 50% relief of ongoing pain revealed that the NNT of 4.4 in the present study compared reasonably well with other studies of PHN, such as topically applied capsaicin (NNT: 5.3–∞) or systemic treatment with gabapentin (NNT: 3.2–5.0).

Summary Ataxia with ocular motor apraxia type 1 (AOA1) is an autosomal recessive cerebellar ataxia (ARCA) associated with oculomotor apraxia, hypoalbuminaemia and hypercholesterolaemia. The gene APTX, which encodes aprataxin, has been identified recently. We studied a large series of 158 families with non-Friedreich progressive ARCA. We identified 14 patients (nine families) with five different missense or truncating mutations in the aprataxin gene (W279X, A198V, D267G, W279R, IVS5+1), four of which were new. We determined the relative frequency of AOA1 which is 5%. Mutation carriers underwent detailed neurological, neuropsychological, electrophysiological, oculographic and biological examinations, as well as brain imaging. The mean age at onset was 6.8 6 4.8 years (range 2‐18 years). Cerebellar ataxia with cerebellar atrophy on MRI and severe axonal sensorimotor neuropathy were present in all patients. In contrast, oculomotor apraxia (86%), hypoalbuminaemia (83%) and hypercholesterolaemia (75%) were variable. Choreic movements were frequent at onset (79%), but disappeared in the course of the disease in most cases. However, a remarkably severe and persistent choreic phenotype was associated with one of the mutations (A198V). Cognitive impairment was always present. Ocular saccade initiation was normal, but their duration was increased by the succession of multiple hypometric saccades that could clinically be confused with ‘slow saccades’. We emphasize the phenotypic variability over the course of the disease. Cerebellar ataxia and/or chorea predominate at onset, but later on they are often partially masked by severe neuropathy, which is the most typical symptom in young adults. The presence of chorea, sensorimotor neuropathy, oculomotor anomalies, biological abnormalities, cerebellar atrophy on MRI and absence of the Babinski sign can help to distinguish AOA1 from Friedreich’s ataxia on a clinical basis. The frequency of chorea at onset suggests that this diagnosis should also be considered in children with chorea who do not carry the IT15 mutation responsible for Huntington’s disease.

INTRODUCTION: Acute painful diabetic neuropathy (APDN) is a distinctive diabetic polyneuropathy and consists of two subtypes: treatment-induced neuropathy (TIN) and diabetic neuropathic cachexia (DNC). The characteristics of APDN are (1.) the small-fibre involvement, (2.) occurrence paradoxically after short-term achievement of good glycaemia control, (3.) intense pain sensation and (4.) eventual recovery. In the face of current recommendations to achieve quickly glycaemic targets, it appears necessary to recognise and understand this neuropathy. METHODS AND RESULTS: Over 2009 to 2012, we reported four cases of APDN. Four patients (three males and one female) were identified and had a mean age at onset of TIN of 47.7 years (±6.99 years). Mean baseline HbA1c was 14.2% (±1.42) and 7.0% (±3.60) after treatment. Mean estimated time to correct HbA1c was 4.5 months (±3.82 months). Three patients presented with a mean time to symptom resolution of 12.7 months (±1.15 months). One patient had an initial normal electroneuromyogram (ENMG) despite the presence of neuropathic symptoms, and a second abnormal ENMG showing axonal and myelin neuropathy. One patient had a peroneal nerve biopsy showing loss of large myelinated fibres as well as unmyelinated fibres, and signs of microangiopathy. CONCLUSIONS: According to the current recommendations of promptly achieving glycaemic targets, it appears necessary to recognise and understand this neuropathy. Based on our observations and data from the literature we propose an algorithmic approach for differential diagnosis and therapeutic management of APDN patients.

Musculoskeletal disorders are a crossroad among diverse specialties: neurology, rehabilitation, orthopedics, occupational medicine and psycho-traumatology. They are integrated into occupational medicine and encompass overuse syndromes, repeated micro-trauma and focal compressive neuropathies linked with professional or sports' activity. Neurological manifestations are omnipresent. Yet, their importance is not always recognized despite frequent resort to neurologists specialized in peripheral nervous system disorders and neurophysiology, as well as, to behavioral cognition specialists. Therapeutic approaches require preventive and work organization measures, neurophysiologic investigations and imaging in expert hands, and conservative treatment with physiotherapy, with or without paraneural and intra-articular injections.

Eight patients with shoulder pain are reported with a history of athletic activities. On examination, performed with a delay of several months, all patients had painful paresis and atrophy of spinati fossa. Electroneuromyography was carried out in all cases and showed a suprascapular nerve axonal loss from the spinati muscles or infraspinatus muscle, signs of denervation-reinnervation in spinati or infraspinatus muscles, normal examination of other scapular girdle muscles, and a coordinate spinati contraction with shoulder displacement excluding rotator cuff tears. All patients had conservative treatment and only two improved. Six patients underwent surgical decompression of the suprascapular nerve; in three, motor function clearly improved, and in three others pain improved. The factors leading to entrapment include stretch mechanisms associated with shoulder movements, leading to suprascapular nerve liability to mechanical lesions. In patients with shoulder pain, the authors recommend an early electrophysiological work-up to recognize an isolated suprascapular neuropathy. The surgical decompression of the nerve should be based on persistent shoulder pain after conservative treatment.

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.

Introduction Le spectre clinique de la neuromyelite optique (NMOSD), maladie inflammatoire et auto-immune du systeme nerveux central avec un biomarqueur ciblant l’AQPA IgG, est evoque dans un contexte auto-immun et paraneoplasique. Observation Nous rapportons le cas d’une patiente de 80 ans avec un syndrome de Sjogren, diagnostic etaye sur une serologie positive anti-SSA, une biopsie salivaire et un test de Schirmer avec une neuronopathie initiale en se referant aux criteres diagnostics etablis dans Brain en 2009. La biopsie du peronier superficiel montre une lesion axono-myelinique avec infiltration perivasculaire de lymphocytes essentiellement T. Elle a recu une cure de rituximab avec succes. Elle est hospitalisee 10 mois plus tard en urgence pour une faiblesse du membre inferieur G. Le CT-scan cerebral visualise une leucoencephalopathie microvasculaire chronique. Le lendemain elle developpe une paraparesie avec hyperreflexie, un niveau T4 et une perte du controle sphincterien. L’IRM medullaire reconnait une lesion etendue de C1 a T10 prenant le contraste, le LCR une pleicytose avec cellules mononuclees, une proteinorachie sans bandes oligoclonales, l’IRM cerebrale une leucoencephalopathie vasculaire. Le bilan paraneoplasique est negatif, auto-immun elevation de l’AQP4-IgG a 1 : 1000 dilution serique par CBA, un specimen serique preleve un an auparavant a 1 : 500. Un CT-scan corps entier souligne une masse colique, son histologie revele un adenocarcinome. La patiente decede en postoperatoire. Discussion Un NMOSD a ete suspecte chez la patiente avec des AQP4-IgG positifs, une lesion medullaire sans nevrite optique, associee a un Sjoren, une neuronopathie et un carcinome colique. L’observation d’une telle association est rare au-dela de 65 ans, mais surtout avec un dosage de l’AQP4 positif un an avant les manifestations medullaires. Des syndromes auto-immuns ont ete rapportes avec l’AQP4, et plus recemment avec des syndromes paraneoplasiques. Conclusion Le dosage serique de l’AQP4 n’est donc pas l’apanage exclusif d’ un Devic, mais doit etre effectue aussi dans les syndromes auto-immuns et paraneoplasiques. Son expression tumorale est reconnue comme un initiateur de la reponse immune paraneoplasique. Informations complementaires Cette etude n’a pas beneficie d’un financement public ou prive.

A canal syndrome induces clinical manifestations secondary to the entrapment of a peripheral nerve passing through an inextensible anatomical structure. The injured nerve induces stereotyped or atypical semiology requiring frequently a neurophysiological examination. The most frequently encountered entrapment neuropathies of the upper and lower extremities are reviewed and the treatment discussed, based on immobilization, prescription of oral prednisone, local steroid injection or surgical decompression.

Neuromyelitis optica (NMO) is an inflammatory disorder of the CNS with prominent involvement of the optic nerve and the spinal cord. An autoantibody against aquaporin-4 (AQP4), a water channel abundant on astrocytic foot processes, is the biomarker of the disease.1 Acknowledgment: The authors thank Prof. Vanda Lennon, MD, PhD, Mayo Clinic, Rochester, MN, for revising the manuscript.

A patient with anosmia and night blindness had repeated clinical and electrophysiological examinations during a 21-year period. Within the first 11 years, he experienced two subacute episodes of numbness with weakness and ataxia. Over the 10 ensuing years, no additional functional disability appeared. We looked retrospectively for a correlation between repeated manual muscle scoring and different nerve conduction parameters. Further studies were done in order to estimate reinnervation in proximal and distal muscles and to assess autonomic functions. A direct relationship was found between the magnitude of muscle weakness and the amplitude of compound muscle action potentials, whereas nerve conduction velocities were inhomogeneously reduced but almost unchanged over time. Parasympathetic tests were normal but sympathetic skin responses were absent. As estimated by macro-EMG and turns-amplitude analysis the compensatory reinnervation was very high. We conclude that, in Refsum's disease, recurrent segmental demyelination of a significant portion of the motor units can occur in parallel with exacerbations of weakness, and that a considerable degree of progressive motor and sudoromotor axonal loss can be found although there is an apparent long-term clinical stabilization of the neuropathy. © 1993 John Wiley & Sons, Inc.

The aim of this trial was to compare the efficacy and tolerance of cyclosporine A (CYA) and azathioprine (AZA) as long-term immunosuppressive treatment for patients with multiple sclerosis. 31 randomly assigned patients completed a 12-month treatment with either CYA (5 mg/kg/day) or AZA (2 mg/kg/day). Evaluation included serial quantitative clinical assessments and circulating T cell markers. The CYA treatment group improved in only one of three scoring systems (p less than 0.05), while no difference was observed in the AZA group. CYA and AZA did not influence CD4+/CD8+ ratio of circulating T cells but affected HNK-1+ cells. The overall frequency of abnormal laboratory values were comparable in both groups. We conclude that CYA given in a low dose is relatively well tolerated but its benefits appear to be of limited value.

Introduction Nous rapportons le cas d’un jeune patient soulevant le probleme de myalgies d’effort avec un deficit en carnitine palmitoyltransferase II (CPT II). Observation Un adolescent decrivait des myalgies d’effort apparues des le debut de la scolarite, soulagees par l’arret de la marche. Il decrivait une aggravation progressive avec reduction du perimetre de marche. La phase de recuperation etait suivie d’une contracture musculaire au repos avec urines foncees post-effort. A l’effort prolonge, il notait un deficit moteur modere non aggrave a l’effort repetitif. L’anamnese familiale etait non-informative, l’examen neurologique au repos normal, apres effort un discret deficit moteur s’installait avec palpation musculaire sensible. L’ENMG montrait un pattern myogene, le dosage des CK etait eleve au repos, aggrave apres effort (3 750 et 4 750 UI/I, normal 25 a 205 UI/I). La biopsie du deltoide reconnaissait une legere atrophie selective des fibres de type I, compatible avec une myopathie primaire, une analyse par western blot des proteines musculaires impliquees dans les dystrophies progressives etait normale. Le test d’effort montrait une absence d’augmentation des lactates avec augmentation marquee de l’amoniemie et des CK. La CPT II etait abaissee a 0,77 nanomoles echangees/min/g (normes Discussion L’intolerance musculaire a l’effort avec myoglobinurie souleve la possibilite d’une myopathie, glycogenose, trouble lipidique, rarement une dystrophie musculaire. Le dosage biochimique a reconnu un effondrement de CPT II, affection hereditaire recessive de l’oxydation mitochondriale des ac. gras. La forme musculaire se traduit par une intolerance a l’effort. En Europe la forme la plus frequente est la mutation S113L, la 413 delAG-F448L est rare. Conclusion Devant un syndrome d’intolerance a l’effort avec myoglobinurie, un dosage biochimique permet le diagnostic par deficit en CPT II, diagnostic specifique important car un essai therapeutique par bezafibrate est en cours.

Reported herein are the results of interferon-β1a (IFN-β1a) therapy in four patients with chronic inflammatory demyelinating polyneuropathy (CIDP) who failed to achieve a prolonged response to conventional therapy. Patients. Three women and one man with a mean age of 57.25 years (range, 52 to 64 years) and a mean duration of symptoms of 8.3 years (range, 1.5 to 13 years) participated in the study. All had a sensorimotor polyneuropathy that fulfilled clinical and electrodiagnostic criteria for CIDP. None had monoclonal gammopathy. All had a relapsing or progressive course after treatment with prednisone, plasma exchange (PE), IV immunoglobulin (IVIg), azathioprine, or cyclophosphamide. All required cyclic therapy, but after their initial response they no longer improved. None had been treated with prednisone, PE, or IVIg for at least 8 weeks before starting IFN-β1a. During this period, no one reported clinical deterioration. ### Study design. The study was planned to be a 6-month pilot, open-label therapeutic trial, with the right to …