Publications by authors named "Stéphane Mathis"

97 Publications

CIDP and hemopathies, an underestimated association.

J Neurol Sci 2021 Aug 25;429:118055. Epub 2021 Aug 25.

Department of Neurology, National Reference Center for 'Rare Peripheral Neuropathies', University Hospital of Limoges (CHU Limoges - Dupuytren Hospital), 2 avenue Martin Luther King, 87042 Limoges, France. Electronic address:

Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is an immune-mediated and treatable disease that may be associated with various systemic conditions. Our objective is to describe the clinical, electrophysiological and pathological data of a series of patients with both CIDP and hemopathy. In this retrospective study, we analyzed 21 patients with CIDP and various hemopathies (malignant or not), consecutively observed for almost five years. In this particular context (with a risk of neurological complications of the hemopathy), a nerve biopsy was taken from each patient (after written consent). All the patients fulfilled the EAN/PNS electrodiagnostic criteria (2021) of CIDP: 16 with 'CIDP' and 2 with 'possible CIDP' (no data for 3 patients). For each patient, pathological analysis of nerve biopsy was compatible with the diagnosis of CIDP, and there was no evidence for hematological complication of the peripheral nervous system. In cases of peripheral neuropathy and malignant hemopathy, the possibility that the peripheral neuropathy is CIDP should not be overlooked because CIDP is clearly accessible to appropriate therapies, with high potential for a positive clinical response. If the diagnosis of CIDP is usually suspected clinically and electrophysiologically, it should be confirmed by pathological study (nerve biopsy) in certain cases. The management of such patients benefits from the collaboration of neurologists, hematologists and oncologists.
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http://dx.doi.org/10.1016/j.jns.2021.118055DOI Listing
August 2021

New classification of autoimmune neuropathies based on target antigens and involved domains of myelinated fibres.

J Neurol Neurosurg Psychiatry 2021 Aug 9. Epub 2021 Aug 9.

National Reference Center for Rare Peripheral Neuropathies and Department of Neurology, CHU Limoges (Dupuytren Hospital), Limoges, France.

Autoimmune neuropathies are named by eponyms, by descriptive terminology or because of the presence of specific antibodies and are traditionally classified, on the basis of pathology and electrophysiology, as primary demyelinating or axonal. However, autoimmune disorders targeting specific molecules of the nodal region, although not showing pathological evidence of demyelination, can exhibit all the electrophysiological changes considered characteristic of a demyelinating neuropathy and acute neuropathies with antiganglioside antibodies, classified as axonal and due to nodal dysfunction, can present with reversible conduction failure and prompt recovery that appear contradictory with the common view of an axonal neuropathy. These observations bring into question the concepts of demyelinating and axonal nerve conduction changes and the groundwork of the classical dichotomous classification.We propose a classification of autoimmune neuropathies based on the involved domains of the myelinated fibre and, when known, on the antigen. This classification, in our opinion, helps to better systematise autoimmune neuropathies because points to the site and molecular target of the autoimmune attack, reconciles some contrasting pathological and electrophysiological findings, circumvents the apparent paradox that neuropathies labelled as axonal may be promptly reversible and finally avoids taxonomic confusion and possible misdiagnosis.
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http://dx.doi.org/10.1136/jnnp-2021-326889DOI Listing
August 2021

Diagnosis and treatment of chronic inflammatory demyelinating polyneuropathy: A "grand cru" of updated data.

Eur J Neurol 2021 Jun 21. Epub 2021 Jun 21.

Department and Laboratory of Neurology, National Reference Center for 'Rare Peripheral Neuropathies', University Hospital of Limoges (CHU Limoges), Dupuytren Hospital, Limoges, France.

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http://dx.doi.org/10.1111/ene.14989DOI Listing
June 2021

Olfaction and anosmia: From ancient times to COVID-19.

J Neurol Sci 2021 06 3;425:117433. Epub 2021 Apr 3.

Department of Neurology (Nerve-Muscle Unit), University Hospital of Bordeaux (CHU Bordeaux), Pellegrin Hospital, 1 place Amélie Raba-Léon, 33076 Bordeaux, France; Grand Sud-Ouest' National Reference Center for neuromuscular disorders, University Hospital of Bordeaux (CHU Bordeaux), Pellegrin Hospital, 1 place Amélie Raba-Léon, 33076 Bordeaux, France.

Olfaction, one of our five main qualitative sensory abilities, is the action of smelling or the capacity to smell. Olfactory impairment can be a sign of a medical problem, from a benign nasal/sinus problem up to a potentially serious brain injury. However, although clinicians (neurologists or not) usually test the olfactory nerves in specific clinical situations (for example, when a neurodegenerative disorder is suspected), they may omit such tests in many other situations. With the recent COVID-19 pandemic, the resurgence of anosmia has reminded us of the importance of testing this sensorineural function. We retrace here the main historical steps and discoveries concerning olfaction and anosmia.
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http://dx.doi.org/10.1016/j.jns.2021.117433DOI Listing
June 2021

Impact of Coronavirus Disease 2019 in a French Cohort of Myasthenia Gravis.

Neurology 2021 04 10;96(16):e2109-e2120. Epub 2021 Feb 10.

From the Referral Center for Neuromuscular Diseases AOC (G.S., S.M., G.L.M., A.S., F.D., L.C., M.-H.V.) and ALS Center (S.M., G.L.M., A.S., L.C.), Nerve-Muscle Unit, University Hospitals of Bordeaux (Pellegrin Hospital), University of Bordeaux; Department of Intensive Care (D.F., D.A., B.C.), Raymond Poincare University Hospital, Garches; Referral Center for Neuromuscular Diseases and ALS (E.S.-C., S.A.) and Referral Center for Neuromuscular Diseases, Neuropediatric Unit (F.A.), Timone University Hospital, Aix-Marseille University, Marseille; Department of Neurology, Referral Center for Neuromuscular Diseases (C.T.), University Hospitals of Lille; ENMG Unit, Referral Center for Neuromuscular Diseases (F.B.), University Hospitals of Lyon (Neurologic Hospital Pierre Wertheimer); Referral Center for Neuromuscular Diseases (A.M.), University Hospitals of Nantes; Inserm, UMR1219 (T.S., A.F.-S.), Bordeaux Population Health Research Center, ISPED, University of Bordeaux; Neurodegenerative Diseases Institute, French Reference Centre for MSA (T.S., A.F.-S.), University Hospitals of Bordeaux; AFM-Téléthon (S.S.-K.), Evry; Department of Neurology (L.K.), General Hospital of Le Mans; Department of Neurology (J.-C.A.), University Hospital of Saint-Etienne; Clinical Neurophysiology and Epileptology Department (G.B.), University Hospital of Bicêtre, Le Kremlin-Bicêtre; Neurology Department (L.K., J.-B.C., A.N.-P.), Referral Center for Neuromuscular Diseases "Nord-Est-Ile de France," University Hospitals of Strasbourg; APHP (Pitié-Salpêtrière Hospital) (T.S.), Referral Center for Neuromuscular Diseases "Nord-Est-Ile de France," Sorbonne University, Paris; Referral Center for Neuromuscular Diseases, Department of Neurology (P.C.), University Hospitals of Toulouse (Purpan Hospital); and Referral Center for Neuromuscular Diseases, Department of Neurology (M.S.), University Hospital of Angers, France.

Objective: To describe the clinical characteristics and outcomes of coronavirus disease 2019 (COVID-19) among patients with myasthenia gravis (MG) and identify factors associated with COVID-19 severity in patients with MG.

Methods: The CO-MY-COVID registry was a multicenter, retrospective, observational cohort study conducted in neuromuscular referral centers and general hospitals of the FILNEMUS (Filière Neuromusculaire) network (between March 1, 2020, and June 8, 2020), including patients with MG with a confirmed or highly suspected diagnosis of COVID-19. COVID-19 was diagnosed based on a PCR test from a nasopharyngeal swab or severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) serology, thoracic CT scan, or typical symptoms. The main outcome was COVID-19 severity based on location of treatment/management (home, hospitalized in a medical unit, or in an intensive care unit). We collected information on demographic variables, general history, and risk factors for severe COVID-19. Multivariate ordinal regression models were used to identify factors associated with severe COVID-19 outcomes.

Results: Among 3,558 patients with MG registered in the French database for rare disorders, 34 (0.96%) had COVID-19. The mean age at COVID-19 onset was 55.0 ± 19.9 years (mean MG duration: 8.5 ± 8.5 years). By the end of the study period, 28 patients recovered from COVID-19, 1 remained affected, and 5 died. Only high Myasthenia Gravis Foundation of America (MGFA) class (≥IV) before COVID-19 was associated with severe COVID-19 ( 0.004); factors that were not associated included sex, MG duration, and medium MGFA classes (≤IIIb). The type of MG treatment had no independent effect on COVID-19 severity.

Conclusions: This registry-based cohort study shows that COVID-19 had a limited effect on most patients, and immunosuppressive medications and corticosteroids used for MG management are not risk factors for poorer outcomes. However, the risk of severe COVID-19 is elevated in patients with high MGFA classes (odds ratio, 102.6 [4.4-2,371.9]). These results are important for establishing evidence-based guidelines for the management of patients with MG during the COVID-19 pandemic.
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http://dx.doi.org/10.1212/WNL.0000000000011669DOI Listing
April 2021

Correction to: Epidemics and outbreaks of peripheral nervous system disorders: I. infectious and immune-mediated causes.

J Neurol 2021 Mar;268(3):891

Department of Neurology, National Reference Center for 'Rare Peripheral Neuropathies', University Hospital, 2 Avenue Martin Luther King, 87042, Limoges, France.

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http://dx.doi.org/10.1007/s00415-020-10280-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8329824PMC
March 2021

The Wide Spectrum of Pathophysiologic Mechanisms of Paraproteinemic Neuropathy.

Neurology 2021 02 4;96(5):214-225. Epub 2020 Dec 4.

From the Department of Neurology (J.-M.V., M.D., L.R., K.G., L.M.), National Reference Center for "Rare Peripheral Neuropathies," Dupuytren University Hospital (CHU Limoges), University of Limoges; Department of Pathology (M.D.), Limoges University Hospital (CHU Limoges), University of Limoges; Department of Neurology and ALS Reference Center (P.C.), Bretonneau University Hospital (CHU Tours), University of Tours; and Department of Neurology (S.M.), Nerve-Muscle Unit, 4 Pellegrin University Hospital (CHU Bordeaux), University of Bordeaux, France.

Monoclonal gammopathy is encountered quite frequently in the general population. This type of hematologic abnormality may be mild, referred to as monoclonal gammopathy of undetermined significance or related to different types of hematologic malignancies. The association of a peripheral neuropathy with monoclonal gammopathy is also fairly common, and hemopathy may be discovered in an investigation of peripheral neuropathy. In such a situation, it is essential to determine the exact nature of the hematologic process in order not to miss a malignant disease and thus initiate the appropriate treatment (in conjunction with hematologists and oncologists). In this respect, nerve biopsy (discussed on a case-by-case basis) is of great value in the management of such patients. We therefore propose to present the objectives and main interests of nerve biopsy in this situation.
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http://dx.doi.org/10.1212/WNL.0000000000011324DOI Listing
February 2021

Epidemics and outbreaks of peripheral nervous system disorders: II. Toxic and nutritional causes.

J Neurol 2021 Mar 11;268(3):892-902. Epub 2020 Sep 11.

Department of Neurology, Nerve-Muscle Unit, CHU Bordeaux (Pellegrin University Hospital), Place Amélie Raba-Léon, Bordeaux, 33076, France.

Peripheral neuropathies have various causes, both infectious and non-infectious. When we think of "epidemics", we often refer to an infectious or even post-infectious origin. Nevertheless, the history of mankind is marked by episodes of epidemics of peripheral neuropathies of non-infectious nature, either of nutritional or toxic origin: we present here the main causes of such epidemics.
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http://dx.doi.org/10.1007/s00415-020-10216-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7484612PMC
March 2021

Epidemics and outbreaks of peripheral nervous system disorders: I. infectious and immune-mediated causes.

J Neurol 2021 Mar 10;268(3):879-890. Epub 2020 Sep 10.

Department of Neurology, National Reference Center for 'Rare Peripheral Neuropathies', University Hospital, 2 Avenue Martin Luther King, 87042, Limoges, France.

The history of mankind is marked by numerous epidemics, some of which involved diseases of the peripheral nervous system, either infectious or otherwise. We describe here the three main infectious causes of epidemics that affect the peripheral nervous system: leprosy, poliomyelitis and diphtheria. We then discuss the main epidemics of immune-mediated origin.
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http://dx.doi.org/10.1007/s00415-020-10215-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7483039PMC
March 2021

When botany inspired pathology of the peripheral nervous system.

Neurology 2020 09 5;95(12):532-536. Epub 2020 Aug 5.

From the Department of Neurology (Nerve-Muscle Unit) (S.M.), "Grand Sud-Ouest" National Reference Center for neuromuscular disorders, ALS Center, University Hospital of Bordeaux (CHU Bordeaux), Pellegrin Hospital; Department and Laboratory of Neurology (J.-M.V.), National Reference Center for "rare peripheral neuropathies", University Hospital of Limoges (CHU Limoges), Dupuytren HospitalFrance; and Institute of Neuropathology (J.W.), RWTH Aachen University Hospital, Germany.

Medicine and botany are 2 distinct disciplines of "natural science," one focusing on humans, the other on plants. However, among the life sciences, both were quite close in earlier times. Moreover, the history of neuropathology, especially in the field of the peripheral nervous system, has been marked by many examples of "botanical images" used to describe certain histopathologic structures. We propose to better understand the reasons why neuropathologists used these botanical terms from a number of interesting anecdotes.
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http://dx.doi.org/10.1212/WNL.0000000000010588DOI Listing
September 2020

The ataxic neuropathies.

J Neurol 2020 Jun 15. Epub 2020 Jun 15.

Department of Neurology, Nerve-Muscle Unit, CHU Bordeaux (Pellegrin Hospital), University of Bordeaux, 1 place Amélie Raba-Léon, 33076, Bordeaux, France.

Ataxia is a frequent symptom in neurological cases with many causes. Sensory ataxia (due to involvement of the proprioceptive pathways) is observed in conditions affecting the central nervous system (spinal cord disorder) and the peripheral nervous system (peripheral neuropathy). The latter correspond to what we refer to as 'ataxic neuropathies'. Ataxic neuropathies represent a wide and heterogeneous spectrum of disorders that may affect dorsal root nerves, dorsal root ganglia, nerve trunks, distal nerve endings or all of them together. The identification of a predominant sensory ataxia in a case of peripheral neuropathy should raise the possibility of some specific etiologies. We propose here to present the main causes of ataxic neuropathies, which are identified with diagnostic workflows that are dictated by the topography of the likely sites of lesions in the proprioceptive pathway together with the timing of their occurrence (acute, subacute, or chronic).
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http://dx.doi.org/10.1007/s00415-020-09994-yDOI Listing
June 2020

Minimizing the Diagnostic Delay in Amyotrophic Lateral Sclerosis: The Role of Nonneurologist Practitioners.

Neurol Res Int 2020 11;2020:1473981. Epub 2020 May 11.

Department of Neurology, Nerve-Muscle Unit, CHU Bordeaux, Pellegrin Hospital, F-33096 Bordeaux, France.

Introduction: Amyotrophic lateral sclerosis (ALS), usually fatal in a few years, is a neurodegenerative disorder where the diagnostic delay, although variable according to the studies, remains too long. The main objective of this study was to determine the average time to diagnose ALS and the role of each physician, general practitioner (GP), or specialist (neurologist or not) involved in the management of these patients. The secondary objective was to propose some simple schemes to quickly identify an ALS suspicion with the aim to reduce this delay. . This retrospective study evaluated the diagnostic delay (and other intermediate delays) of 90 ALS patients registered in the ALS Center of Bordeaux (France) in 2013. The main clinical signs encountered (and their order of appearance) were studied.

Results: The average diagnostic delay was 17 months, with a median diagnostic delay of 12 months. The average diagnostic delay was 2.7 months between the first symptoms and the first complaint to GP, followed by an additional 6.5 month delay before the patient's first visit to a neurologist. This period could be shortened, especially if GP performed additional tests quickly (=0.01), as the time spent consulting various specialists often extends this crucial step. Overall, diagnostic delay accounted for 40% of the total duration of the disease progression.

Conclusion: In relation to total survival time, the diagnostic delay of ALS appears to be proportionately very long, sometimes longer than that observed in previous studies (because it also included the total delay to diagnostic or treatment initiation). The rapid execution of useful additional tests by the first medical doctor, often GP (with the help of a neurologist), considerably reduces the diagnostic delay. The central role of GP seems to be crucial in the management of patients with ALS. The main objective is, of course, to initiate appropriate treatment and care as soon as possible. Finally, based on our results, we also provide a short practical diagram to help nonneurologist practitioners to quickly discuss the diagnosis of ALS in case of some specific symptoms ("red flags").
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http://dx.doi.org/10.1155/2020/1473981DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7238340PMC
May 2020

History of acute polyradiculoneuropathy (part 1): The prehistory of Guillain-Barré syndrome.

Neurology 2020 05 28;94(19):828-835. Epub 2020 Apr 28.

From the Department of Neurology (S.M., A.S., G.L.M.), Nerve-Muscle Unit, CHU Bordeaux, Pellegrin University Hospital, Bordeaux, France; Department of Neurology (J.-M.V.), National Reference Center for "Rare Peripheral Neuropathies," University Hospital, Limoges, France; University of Bordeaux (G.L.M.), U1215, Bordeaux, France; and INSERM (G.L.M.), Neurocentre Magendie, Physiopathologie de la Plasticité Neuronale, U1215, Bordeaux, France.

Guillain-Barré syndrome (GBS) is an acute inflammatory polyradiculoneuropathy described in 1916 by Guillain, Barré, and Strohl. However, many similar cases had been reported earlier under various terms, with less detail and with various explanations about its pathophysiologic origin. Based on the analysis of old articles, we propose an overview of the history of acute inflammatory polyradiculoneuropathy before the official description of GBS.
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http://dx.doi.org/10.1212/WNL.0000000000009401DOI Listing
May 2020

History of acute polyradiculoneuropathy (part 2): From 1916 to 2019.

Neurology 2020 05 28;94(19):836-840. Epub 2020 Apr 28.

From the Department of Neurology, Nerve-Muscle Unit (S.M., A.S., G.L.M.), CHU Bordeaux (Pellegrin University Hospital); University of Bordeaux (G.L.M.); INSERM (G.L.M.), Neurocentre Magendie, "Physiopathologie de la Plasticité Neuronale," Bordeaux; and Department of Neurology (J.-M.V.), National Reference Center for "Rare Peripheral Neuropathies," University Hospital, Limoges, France.

First reported by Guillain, Barré, and Strohl during the Great War, the concept of "Guillain-Barré syndrome" (GBS) progressively emerged as a clinical entity in its own right. Despite many debates about its clinical and pathophysiologic characteristics, GBS is now recognized as a disease throughout the world. We describe here the main steps of the rich history of GBS, from 1916 to the present.
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http://dx.doi.org/10.1212/WNL.0000000000009402DOI Listing
May 2020

The mysterious death of Georges Cuvier (1832): An early case of severe Guillain-Barré syndrome?

Neuromuscul Disord 2020 03 7;30(3):250-253. Epub 2020 Feb 7.

Department of Neurology, National Reference Center for 'Rare Peripheral Neuropathies', University Hospital, 2 Avenue Martin Luther King, 87042 Limoges, France.

Although Guillain-Barré syndrome was officially described in 1916, other cases had been reported earlier, such as some cases of Landry's paralysis. This year is the 250th anniversary of the birth of Georges Cuvier (1769-1832), one of the fathers of comparative anatomy and palaeontology: he died at age 63 from an unknown disease. By reading medical reports about his last days and hours, we conclude Cuvier died from a severe form of Guillain-Barré syndrome. Moreover, we think this observation could be the first complete report of acute polyradiculoneuropathy with pharyngeal-cervical-brachial onset.
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http://dx.doi.org/10.1016/j.nmd.2020.01.007DOI Listing
March 2020

ADAR1 mediated regulation of neural crest derived melanocytes and Schwann cell development.

Nat Commun 2020 01 10;11(1):198. Epub 2020 Jan 10.

Laboratory of Embryology and Genetics of Human Malformation, Imagine Institute, INSERM UMR 1163, Universite Paris Descartes-Universite de Paris, Paris, France.

The neural crest gives rise to numerous cell types, dysfunction of which contributes to many disorders. Here, we report that adenosine deaminase acting on RNA (ADAR1), responsible for adenosine-to-inosine editing of RNA, is required for regulating the development of two neural crest derivatives: melanocytes and Schwann cells. Neural crest specific conditional deletion of Adar1 in mice leads to global depigmentation and absence of myelin from peripheral nerves, resulting from alterations in melanocyte survival and differentiation of Schwann cells, respectively. Upregulation of interferon stimulated genes precedes these defects, which are associated with the triggering of a signature resembling response to injury in peripheral nerves. Simultaneous extinction of MDA5, a key sensor of unedited RNA, rescues both melanocytes and myelin defects in vitro, suggesting that ADAR1 safeguards neural crest derivatives from aberrant MDA5-mediated interferon production. We thus extend the landscape of ADAR1 function to the fields of neural crest development and disease.
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http://dx.doi.org/10.1038/s41467-019-14090-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6954203PMC
January 2020

Ultrastructural Lesions of Nodo-Paranodopathies in Peripheral Neuropathies.

J Neuropathol Exp Neurol 2020 03;79(3):247-255

Department of Neurology, Nerve-Muscle Unit, CHU Bordeaux (Pellegrin University Hospital), Bordeaux, France.

Whatever the cause of myelin damage of the peripheral nervous system, the initial attack on myelin by a dysimmune process may begin either at the internodal area or in the paranodal and nodal regions. The term "nodo-paranodopathy" was first applied to some "axonal Guillain-Barré syndrome" subtypes, then extended to cases classified as chronic inflammatory demyelinating polyradiculoneuropathy bearing IgG4 antibodies against paranodal axoglial proteins. In these cases, paranodal dissection develops in the absence of macrophage-induced demyelination. In contrast, the mechanisms of demyelination of other dysimmune neuropathies induced by macrophages are unexplained, as no antibodies have been identified in such cases. Electron microscopy of longitudinal sections of nerve biopsies is useful to visualize and authenticate the characteristic lesions of paranodes/nodes. However, it should be borne in mind that identical ultrastructural aspects are seen in other types of polyneuropathies: Genetic, experimental, and in a few polyneuropathies for which there is no obvious etiology. Ultrastructural nerve studies confirm the initial involvement of nodes/paranodes in various types of acquired and genetic neuropathies. For some of them, the antibodies or the proteins involved by mutations are clearly identified such as Caspr-1, Contactin-1, NFasc155, and NFasc186; other unidentified proteins are likely to be involved as well.
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http://dx.doi.org/10.1093/jnen/nlz134DOI Listing
March 2020

Prognostic factor of poor outcome in anti-MAG neuropathy: clinical and electrophysiological analysis of a French Cohort.

J Neurol 2020 Feb 8;267(2):561-571. Epub 2019 Nov 8.

Department of Neurology, Nerve-Muscle Unit, CHU Bordeaux (Groupe Hospitalier Pellegrin), University of Bordeaux, Place Amélie Raba-Léon, 33000, Bordeaux, France.

Background: Anti-MAG polyneuropathy (anti-MAG PN) is an immune-mediated peripheral sensorimotor neuropathy characterized by distal demyelination and ataxia. However, this disorder, unlike other immune-mediated neuropathies, is difficult to treat in most cases.

Method: We retrospectively collected all anti-MAG PN patients followed in two hospitals for a period of 12 years to determine prognostic factors, especially those that indicated a good response to the various therapeutic strategies used.

Results: Forty-seven patients were included in the study; of these, 61% had a classical 'distal demyelinating pattern', 34.2% had a 'CIDP-like pattern', and the others had an 'axonal pattern'. The most commonly used treatments were intravenous immunoglobulin (IVIg) as the first-line treatment and rituximab as the second- or third-line treatment. No prognostic factor was identified for IVIg, but electrophysiological parameters at onset were better in patients with a good response to rituximab than in non-responder patients, even though mild or high disability was observed in nearly half the patients at last examination.

Conclusion: Even though disability seems to progress in most cases despite the treatments used, our results suggest that an early electrophysiological reduction in sensory nerves could be considered a 'red flag' for the prompt initiation of rituximab to try to delay long-term disability.
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http://dx.doi.org/10.1007/s00415-019-09618-0DOI Listing
February 2020

Papilledema and Peripheral Neuropathies.

Neurologist 2019 Nov;24(6):185-193

Neurology, CHU Limoges (Dupuytren University Hospital), Limoges.

Introduction: Papilledema is a common sign in ophthalmology and is typically associated with increased intracranial pressure (ICP) in neurological diseases. Since the beginning of the 20th century, some cases of papilledema have been reported in association with acute or chronic inflammatory neuropathies.

Case Report: We describe a 42-year-old man with acute-onset inflammatory polyradiculoneuropathy and bilateral papilledema.

Conclusions: Based on a personal case report and from an extensive review of the medical literature, we identify 2 distinct patterns. First, radiculoneuropathy may be a consequence of intracranial pressure (peripheral nerve involvement corresponding to a "false localizing sign"). Second, papilledema may occur after the onset of inflammatory neuropathy. For such cases, the pathophysiological mechanism remains unknown (eg, reactional inflammatory processes or actions of unknown autoantibodies) and requires further elucidation.
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http://dx.doi.org/10.1097/NRL.0000000000000250DOI Listing
November 2019

Early clinicopathologic description of nodoparanodopathy in the 19th century.

Neurology 2019 10;93(18):788-792

From the Department of Neurology (S.M., G.L.M.), Nerve-Muscle Unit, CHU Bordeaux (Pellegrin University Hospital), Bordeaux, France; and Department of Neurology (J.-M.V.), National Reference Center for "Rare Peripheral Neuropathies", University Hospital, Limoges, France.

Nodoparanodopathy is a recent concept in the field of peripheral neuropathy, corresponding to peripheral nerve disorders stemming from an autoimmune attack directed and limited to the nodal region. This concept was identified using modern techniques of electrophysiology, immunology, and pathology (including electron microscopy). We present here what we believe to be the earlier well-documented case of nodoparanodopathy in the medical literature, based on an article written by Samuel Gilbert Webber (1838-1926) in 1884.
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http://dx.doi.org/10.1212/WNL.0000000000008399DOI Listing
October 2019

Myopathy and scleromyxedema.

J Neurol 2019 Aug 21;266(8):2051-2059. Epub 2019 May 21.

Department of Neurology, Nerve-Muscle Unit, CHU Bordeaux (Groupe Hospitalier Pellegrin), University of Bordeaux, Place Amélie Raba-Léon, 33000, Bordeaux, France.

Scleromyxedema is a chronic, idiopathic disorder associated with monoclonal gammopathy, and characterized by dermal mucin deposition. However, systemic manifestations are frequent, including neuromuscular symptoms. We herein present a 71-year-old man who developed a vacuolar myopathy in a context of a known scleromyxedema, and we compare our observation with the nineteen other cases found in the medical literature. Such an association (especially with suggestive skin abnormalities) has to be known for two reasons. First, this diagnosis might be quite challenging because the myopathy may precede the typical skin changes. Secondly, conversely to other forms of vacuolar myopathy, some of the symptoms may respond (even partially) to immunomodulatory and/or immunosuppressant therapeutics.
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http://dx.doi.org/10.1007/s00415-019-09379-wDOI Listing
August 2019

Canine neuropathies: powerful spontaneous models for human hereditary sensory neuropathies.

Hum Genet 2019 May 6;138(5):455-466. Epub 2019 Apr 6.

Univ Rennes, CNRS, IGDR (Institut de Génétique et Développement de Rennes)-UMR6290, 35000, Rennes, France.

In humans, hereditary sensory neuropathies (HSN), also known as hereditary sensory and autonomic neuropathies (HSAN), constitute a clinically and genetically heterogeneous group of disorders characterized by progressive sensory loss, often accompanied by chronic skin ulcerations and nail dystrophic changes. To date, although around 20 genes have already been discovered, they do not explain the genetic causes of all patients. In dogs, similar neuropathies are also diagnosed, several breeds being predisposed to specific forms of the disease. Indeed, the breed specificity of most canine genetic diseases is due to the small numbers of founders and high levels of inbreeding. Recent knowledge and tools developed to study the canine genome efficiently allows deciphering the genetic bases of such diseases. To date, a dozen breeds are recognized to develop specific HSN. For the Border collie and hunting dog breeds, the genes involved have recently been discovered. Other affected breeds thus constitute potential genetic models, with new genes to be found in dogs that can be considered as candidate genes for human HSAN/HSN. Here, we review the different forms of human and canine HSAN/HSN and we present a novel form in Fox terrier cases, highlighting the advantages of the dog model for such rare human diseases.
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http://dx.doi.org/10.1007/s00439-019-02003-xDOI Listing
May 2019

Characteristics of patients with vitamin B12-responsive neuropathy: a case series with systematic repeated electrophysiological assessment.

Neurol Res 2019 Jun 19;41(6):569-576. Epub 2019 Mar 19.

e Department of Neurology , Groupe Hospitalier Pellegrin , Bordeaux , France.

Background: Vitamin B12 (B12) has a fundamental role in both central and peripheral nervous system function at all ages. Neurologic manifestations may be the earliest and often the only manifestation of B12 deficiency. Mostly because of the poor sensitivity of methods of determination for B12 levels, peripheral neuropathy remains a classical but underdiagnosed complication of B12 deficiency. So the clinical and electrophysiological characteristics of B12-responsive neuropathy are not well known.

Methods: A retrospective study of patients with B12-responsive neuropathy was conducted at our hospital on a 3-year period. The criteria for inclusion were: (a) neuropathy confirmed by the electrophysiological study (nerve conduction study); and (b) improvement of at least 1 point of the total Overall Neuropathy Limitations Scale score after vitamin B12 treatment.

Results: Nine patients were identified. Serum B12 level was low in only four. Four patients had sensorimotor (predominantly sensory) axonal polyneuropathy while five had only sensory neuronopathy. Six improved in less than 1 month after B12 supplementation.

Conclusion: B12-responsive neuropathy is a more heterogeneous group of neuropathy than previously described. B12 deficiency is a cause of peripheral neuropathy and should systematically be ruled out in the clinical setting of idiopathic neuropathy or sensory neuronopathy because of potential reversibility.

Abbreviations: B12: vitamin B12; CMAP: compound muscle action potentials; DRG: dorsal root ganglia; ENMG: electroneuromyography; MCCT: motor central conduction time; MEP: motor evoked potentials; MMA: methylmalonic acid; MMCoAM: L-methylmalonyl-CoenzymeA mutase; ONLS: overall neuropathy limitations scale; SCV: sensory conduction velocities; SNAP: sensory nerve action potentials; SNN: sensory neuronopathy; SSS: SNAP sum score.
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http://dx.doi.org/10.1080/01616412.2019.1588490DOI Listing
June 2019

Genetics of amyotrophic lateral sclerosis: A review.

J Neurol Sci 2019 Apr 21;399:217-226. Epub 2019 Feb 21.

Department of Neurology, Nerve-Muscle Unit, CHU Bordeaux, (Pellegrin Hospital), University of Bordeaux, F-33000 Bordeaux, France; Neurocentre Magendie, 'Physiopathologie de la Plasticité Neuronale', University of Bordeaux, U862, F-33000 Bordeaux, France; INSERM, Neurocentre Magendie, 'Physiopathologie de la Plasticité Neuronale', U862, F-33000 Bordeaux, France.

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder of the motor pathways, invariably leading to death within a few years of onset. Most cases of ALS are sporadic, but familial forms of the disease (FALS) constitute 10% of the cases. Since the first identification of a causative gene in the 1990s and with recent advances in genetics, more than twenty genes have now been linked to FALS. This increased number of genes led to a tremendous amount of research, clearly contributed to a better understanding of the pathophysiology of this disorder, and paved the way for the development of new therapeutics and new hope for this fatal disease.
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http://dx.doi.org/10.1016/j.jns.2019.02.030DOI Listing
April 2019

Rodent models with expression of PMP22: Relevance to dysmyelinating CMT and HNPP.

J Neurol Sci 2019 Mar 21;398:79-90. Epub 2019 Jan 21.

Department of Neurology, CHU Limoges, Dupuytren University Hospital, 2 avenue Martin Luther King, 87042 Limoges, France; National Reference Center for 'Rare Peripheral Neuropathies', CHU Limoges, Dupuytren University Hospital, 2 avenue Martin Luther King, 87042 Limoges, France. Electronic address:

Background: Charcot-Marie-Tooth diseases (CMT) are due to abnormalities of many genes, the most frequent being linked to PMP22 (Peripheral Myelin Protein 22). In the past, only spontaneous genetic anomalies occurring in mouse mutants such as Trembler (Tr) mice were available; more recently, several rodent models have been generated for exploration of the pathophysiological mechanisms underlying these neuropathies.

Methods: Based on the personal experience of our team, we describe here the pathological hallmarks of most of these animal models and compare them to the pathological features observed in some CMT patient nerves (CMT types 1A and E; hereditary neuropathy with liability to pressure palsies, HNPP).

Results: We describe clinical data and detailed pathological analysis mainly by electron microscopy of the sciatic nerves of these animal models conducted in our laboratory; lesions of PMP22 deficient animals (KO and mutated PMP22) and PMP22 overexpressed models are described and compared to ultrastructural anomalies of nerve biopsies from CMT patients due to PMP22 gene anomalies. It is of note that while there are some similarities, there are also significant differences between the lesions in animal models and human cases. Such observations highlight the complex roles played by PMP22 in nerve development.

Conclusion: It should be borne in mind that we require additional correlations between animal models of hereditary neuropathies and CMT patients to rationalize the development of efficient drugs.
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http://dx.doi.org/10.1016/j.jns.2019.01.030DOI Listing
March 2019

Some new proposals for the classification of inherited myopathies.

J Neurol Sci 2018 08 19;391:118-119. Epub 2018 Jun 19.

Department of Neurology (National reference center 'neuropathies périphériques rares'), University Hospital Dupuytren, 2 avenue Martin Luther King, 87042 Limoges, France. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2018.06.014DOI Listing
August 2018

The classification of Charcot-Marie-Tooth diseases, a never-ending story: CMT4?

Brain 2018 09;141(9):e70

Department of Neurology, Nerve-Muscle Unit, CHU Bordeaux (Pellegrin University Hospital), University of Bordeaux, Place Amélie Raba-Léon, Bordeaux, France.

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http://dx.doi.org/10.1093/brain/awy207DOI Listing
September 2018

Value of nerve biopsy in the management of peripheral neuropathies.

Expert Rev Neurother 2018 07 25;18(7):589-602. Epub 2018 Jun 25.

d National Reference Center for 'rare peripheral neuropathies' , University Hospital , Limoges , France.

Introduction: Peripheral neuropathy is a common symptom throughout the population, with numerous possible etiologies. The diagnosis of peripheral neuropathies (and their causes) is mainly based on clinical, electrophysiological, biological, and imaging features. Areas covered: This paper reviews the main causes of neuropathy and discusses the usefulness of nerve biopsy (NB) in such cases. Expert commentary: In most cases, NB is not mandatory in the diagnostic work-up of a peripheral neuropathy. However, NB is clearly an indication in cases of vasculitis. It is also valuable in peripheral neuropathies with severe and rapid worsening (without clear cause) in order to uncover a pathological hallmark (amyloid deposits). Although NB is considered an invasive method, it may be useful in the management of peripheral neuropathy, especially to guide treatment in certain cases. In summary, although NB is not a systematic procedure, it is a useful tool that should be discussed on a case-by-case basis within the clinical context.
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http://dx.doi.org/10.1080/14737175.2018.1489240DOI Listing
July 2018
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