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1、Multifocal motor neuropathy1. Clin Neuroradiol. 2015 Dec;25(4):423-5. doi: 10.1007/s00062-014-0364-9. Epub 2015Jan 3.Ultrasonography of Multifocal Acquired Demyelinating Sensory and Motor Neuropathy(MADSAM).Neubauer C(1), Gruber H(2), Buerle J(3), Egger K(4).Author information: (1)Department of Radi

2、ology, University Medical Center Freiburg, Hugstetter Str.55, 79106, Freiburg, Germany. (2)Department of Radiology, Innsbruck MedicalUniversity, Anichstrae 35, 6020, Innsbruck, Austria. (3)Department of Neurology,University Medical Center Freiburg, Breisacher Str. 64, 79106, Freiburg, Germany.(4)Dep

3、artment of Neuroradiology, University Medical Center Freiburg, BreisacherStr. 64, 79106, Freiburg, Germany. karl.eggeruniklinik-freiburg.de.PMID: 25556187 PubMed - in process2. J Crohns Colitis. 2015 Dec;9(12):1174-5. doi: 10.1093/ecco-jcc/jjv137. Epub 2015 Jul 29.Multifocal Motor Neuropathy Associa

4、ted with Infliximab.Rowan CR(1), Tubridy N(2), Cullen G(2).Author information: (1)Centre for Colorectal Disease, St Vincents University Hospital, Dublin,Ireland and School of Medicine and Medical Science, University College Dublin,Dublin, Ireland. c.rowan2st-vincents.ie. (2)Centre for Colorectal Dis

5、ease, StVincents University Hospital, Dublin, Ireland and School of Medicine and MedicalScience, University College Dublin, Dublin, Ireland.BACKGROUND: The anti-tumour necrosis factor TNF monoclonal antibody,infliximab, is commonly prescribed in both ulcerative colitis and Crohnsdisease. Neurologica

6、l side effects such as optic neuritis are well recognised,although not as frequently seen as hypersensitivity and serious infections.CASE: We present a case of peripheral neuropathy in a young man on infliximabtherapy for ulcerative colitis. This presented as an asymmetrical and slowlyprogressive we

7、akness in his right upper limb, severely impacting on function.Investigations confirmed a diagnosis of multifocal motor neuropathy MMN. Thishas been previously described in patients receiving infliximab forrheumatological conditions. The exact mechanism is unclear, but the neuropathyresponds well to

8、 intravenous immunoglobulin. In our case, infliximab wasdiscontinued. The patient was treated with immunoglobin for 5 days and recovered rapidly. Mercaptopurine was instituted as maintanence therapy, with good effect.CONCLUSION: Gastroenterologists prescribing infliximab should be cognisant ofboth p

9、eripheral and central neurological complications, ensuring promptwithdrawal of the offending agent and appropriate alternative treatment.Copyright 2015 European Crohns and Colitis Organisation (ECCO). Published byOxford University Press. All rights reserved. For permissions, please email:journals.pe

10、rmissions.PMID: 26223843 PubMed - in process3. JAMA Neurol. 2015 Dec 1;72(12):1510-8. doi: 10.1001/jamaneurol.2015.2347.The Importance of Rare Subtypes in Diagnosis and Treatment of PeripheralNeuropathy: A Review.Callaghan BC(1), Price RS(2), Chen KS(3), Feldman EL(1).Author information: (1)Departme

11、nt of Neurology, University of Michigan, Ann Arbor. (2)Department ofNeurology, University of Pennsylvania, Philadelphia. (3)Department ofNeurosurgery, University of Michigan, Ann Arbor.IMPORTANCE: Peripheral neuropathy is a prevalent condition that usually warrants a thorough history and examination

12、 but has limited diagnostic evaluation.However, rare localizations of peripheral neuropathy often require more extensivediagnostic testing and different treatments.OBJECTIVE: To describe rare localizations of peripheral neuropathy, including theappropriate diagnostic evaluation and available treatme

13、nts.EVIDENCE REVIEW: References were identified from PubMed searches conducted on May29, 2015, with an emphasis on systematic reviews and randomized clinical trials. Articles were also identified through the use of the authors own files. Searchterms included common rare neuropathy localizations and

14、their causes, as well as epidemiology, pathophysiology, diagnosis, and treatment.FINDINGS: Diffuse, nonlength-dependent neuropathies, multiple mononeuropathies,polyradiculopathies, plexopathies, and radiculoplexus neuropathies are rareperipheral neuropathy localizations that often require extensive

15、diagnostictesting. Atypical neuropathy features, such as acute/subacute onset, asymmetry,and/or motor predominant signs, are frequently present. The most common diffuse, nonlength-dependent neuropathies are Guillain-Barr syndrome, chronicinflammatory demyelinating polyneuropathy, multifocal motor ne

16、uropathy, andamyotrophic lateral sclerosis. Effective disease-modifying therapies exist formany diffuse, nonlength-dependent neuropathies including Guillain-Barr syndrome,chronic inflammatory demyelinating polyneuropathy, multifocal motor neuropathy,and some paraprotein-associated demyelinating neur

17、opathies. Vasculitic neuropathy(multiple mononeuropathy) also has efficacious treatment options, but definitive evidence of a treatment effect for IgM anti-MAG neuropathy and diabeticamyotrophy (radiculoplexus neuropathy) is lacking.CONCLUSIONS AND RELEVANCE: Recognition of rare localizations of per

18、ipheralneuropathy is essential given the implications for diagnostic testing andtreatment. Electrodiagnostic studies are an important early step in thediagnostic evaluation and provide information on the localization andpathophysiology of nerve injury.PMID: 26437251 PubMed - in process4. Neurotherap

19、eutics. 2015 Nov 24. Epub ahead of printImmunotherapy in Peripheral Neuropathies.Lger JM(1), Guimares-Costa R(2), Muntean C(2).Author information: (1)National Referral Center for Rare Neuromuscular Diseases, InstitutHospitalo-Universitaire de Neurosciences, University Hospital Piti-Salptrireand Univ

20、ersity Pierre et Marie Curie (Paris VI), Paris, France.jean-marc.legeraphp.fr. (2)National Referral Center for Rare NeuromuscularDiseases, Institut Hospitalo-Universitaire de Neurosciences, University Hospital Piti-Salptrire and University Pierre et Marie Curie (Paris VI), Paris, France.Immunotherap

21、y has been investigated in a small subset of peripheral neuropathies,including an acute one, Guillain-Barr syndrome, and 3 chronic forms: chronicinflammatory demyelinating polyradiculoneuropathy, multifocal motor neuropathy,and neuropathy associated with IgM anti-myelin-associated glycoprotein. Seve

22、ralexperimental studies and clinical data are strongly suggestive of animmune-mediated pathogenesis. Either cell-mediated mechanisms or antibodyresponses to Schwann cell, compact myelin, or nodal antigens are considered toact together in an aberrant immune response to cause damage to peripheral nerv

23、es.Immunomodulatory treatments used in these neuropathies aim to act at varioussteps of this pathogenic process. However, there are many phenotypic variantsand, consequently, there is a significant difference in the response toimmunotherapy between these neuropathies, as well as a need to improve ou

24、rknowledge and long-term management of chronic forms.PMID: 26602549 PubMed - as supplied by publisher5. Muscle Nerve. 2015 Nov 12. doi: 10.1002/mus.24968. Epub ahead of printMultifocal motor neuropathy: 30 years from onset to diagnosis.Hobson-Webb LD(1), Donahue SN(1), Bey RD(2).Author information:

25、(1)Department of Neurology, Duke University Medical Center, Durham, NC.(2)NovantHealth Winston Neurology, Winston-Salem, NC.PMID: 26562827 PubMed - as supplied by publisher6. J Neurol Neurosurg Psychiatry. 2015 Nov;86(11):1234-9. doi:10.1136/jnnp-2014-308589. Epub 2014 Dec 24.Diagnostic accuracy of

26、electrically elicited multiplet discharges in patientswith motor neuron disease.Sleutjes BT(1), Montfoort I(1), van Doorn PA(2), Visser GH(3), Blok JH(4).Author information: (1)Department of Clinical Neurophysiology, Erasmus MC, University Medical Centre Rotterdam, Rotterdam, The Netherlands. (2)Dep

27、artment of Neurology, Erasmus MC,University Medical Centre Rotterdam, Rotterdam, The Netherlands. (3)Department ofClinical Neurophysiology, Erasmus MC, University Medical Centre Rotterdam,Rotterdam, The Netherlands Department of Clinical Neurophysiology, SEINHeemstede, Heemstede, The Netherlands. (4

28、)Department of Clinical Neurophysiology,Erasmus MC, University Medical Centre Rotterdam, Rotterdam, The NetherlandsDepartment of Clinical Physics, Mxima Medical Centre, Veldhoven, TheNetherlands.OBJECTIVE: To determine and compare the diagnostic accuracy of electricallyelicited multiplet discharges

29、(MDs) and fasciculation potentials (FPs) in motorneuron disease (MND).METHODS: Patients were eligible when they had MND in their differential diagnosisand were referred for electromyogram (EMG). Stimulated high-density surface EMGof the thenar muscles was performed on the same day as standard EMG ex

30、amination. High-density recordings were analysed for presence of MDs and needle EMG of anymuscle investigated in the cervical region for presence of FPs.RESULTS: Of the 61 patients enrolled in this diagnostic study, 24 patients wereclinically diagnosed with amyotrophic lateral sclerosis (ALS) and 11

31、 patientswith progressive muscular atrophy (PMA). Another diagnosis was made in 26patients. Sixteen patients in whom MDs were detected were diagnosed with eitherALS (n=11) or PMA (n=5; sensitivity=47.1%, PPV=94.1%). MDs were detected in only one patient initially diagnosed with PMA, but in whom late

32、r on, multifocal motor neuropathy could not be excluded (specificity=96.2%). Electrically elicited MDshad a higher specificity than FPs (96.2% vs 53.9%, p0.001, n=26) and lowersensitivity (47.1% vs 85.3%, p=0.002, n=34). When considering presence of MDs in MND as neurogenic EMG abnormality, lower mo

33、tor neuron involvement of 1 EMGregion increased from 50% to 73.5% (p=0.008, n=34).CONCLUSIONS: Electrically evoked MDs are highly specific for ALS and PMA and are an early sign of lower motor neuron dysfunction.Published by the BMJ Publishing Group Limited. For permission to use (where notalready gr

34、anted under a licence) please go to/group/rights-licensing/permissions.PMID: 25540246 PubMed - in process7. Neuromuscul Disord. 2015 Nov;25(11):904-7. doi: 10.1016/j.nmd.2015.07.012. Epub2015 Jul 23.Precise correlation between structural and electrophysiological disturbances inMADSAM neuropathy.Simo

35、n NG(1), Kiernan MC(2).Author information: (1)Brain and Mind Research Institute, Sydney Medical School, The University ofSydney, Australia; Prince of Wales Clinical School, University of New SouthWales, Australia. Electronic address: n.simon.au. (2)Brain and MindResearch Institute, Sydney Medical Sc

36、hool, The University of Sydney, Australia.Multifocal acquired demyelinating sensory and motor neuropathy is characterisedby multifocal clinical deficits. Imaging studies have identified multifocalenlargements of nerve trunks, but a precise correlation between structuralabnormalities and electrophysi

37、ological dysfunction has not been elucidated. Twopatients diagnosed with multifocal acquired demyelinating sensory and motorneuropathy were evaluated with nerve conduction studies, including short segment nerve conduction studies to precisely localise motor conduction block, andultrasound studies of

38、 corresponding nerve trunks. Motor conduction block wasidentified in each patient (upper limb nerves in two patients), superimposed onadditional demyelinating neurophysiological features. Upper limb ultrasoundstudies demonstrated focal nerve enlargement that precisely correlated withneurophysiologic

39、al conduction block. The results of this study suggest thatfactors contributing to focal structural abnormalities in multifocal acquireddemyelinating sensory and motor neuropathy are also those that produce conductionblock.Copyright 2015 Elsevier B.V. All rights reserved.PMID: 26314279 PubMed - in p

40、rocess8. Brain. 2015 Oct 24. pii: awv311. Epub ahead of printMutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease.Sevilla T(1), Lupo V(2), Martnez-Rubio D(3), Sancho P(3), Sivera R(4), ChumillasMJ(5), Garca-Romero M(6), Pascual-Pascual SI(6), Muelas N(7), Dopazo J(8),Vlchez JJ(1), Pa

41、lau F(9), Espins C(2).Author information: (1)1 Department of Neurology, Hospital Universitari i Politcnic La Fe, Avd.Fernando Abril Martorell no. 106, 46026 Valencia, Spain 2 Centro de InvestigacinBiomdica en Red de Enfermedades Raras (CIBERER), c/ Eduardo Primo Yfera no. 13,46012 Valencia, Spain 3

42、Department of Medicine, University of Valencia, Avd.Blasco Ibez no. 15, 46010 Valencia, Spain. (2)2 Centro de InvestigacinBiomdica en Red de Enfermedades Raras (CIBERER), c/ Eduardo Primo Yfera no. 13,46012 Valencia, Spain 4 Program in Rare and Genetic Diseases and IBV/CSICAssociated Unit, Centro de

43、 Investigacin Prncipe Felipe (CIPF), c/ Eduardo PrimoYfera no. 13, 46012 Valencia, Spain cespinoscipf.es. (3)2 Centro deInvestigacin Biomdica en Red de Enfermedades Raras (CIBERER), c/ Eduardo Primo Yfera no. 13, 46012 Valencia, Spain 4 Program in Rare and Genetic Diseases andIBV/CSIC Associated Uni

44、t, Centro de Investigacin Prncipe Felipe (CIPF), c/Eduardo Primo Yfera no. 13, 46012 Valencia, Spain. (4)1 Department of Neurology,Hospital Universitari i Politcnic La Fe, Avd. Fernando Abril Martorell no. 106, 46026 Valencia, Spain. (5)2 Centro de Investigacin Biomdica en Red deEnfermedades Raras (

45、CIBERER), c/ Eduardo Primo Yfera no. 13, 46012 Valencia,Spain 5 Department of Clinical Neurophysiology, Hospital Universitari iPolitcnic La Fe, Avd. Fernando Abril Martorell no. 106, 46026 Valencia, Spain.(6)6 Department of Neuropaediatrics, Hospital Universitario La Paz, P de laCastellana no. 261,

46、08046 Madrid, Spain. (7)1 Department of Neurology, HospitalUniversitari i Politcnic La Fe, Avd. Fernando Abril Martorell no. 106, 46026Valencia, Spain 2 Centro de Investigacin Biomdica en Red de Enfermedades Raras (CIBERER), c/ Eduardo Primo Yfera no. 13, 46012 Valencia, Spain. (8)2 Centro de Invest

47、igacin Biomdica en Red de Enfermedades Raras (CIBERER), c/ Eduardo Primo Yfera no. 13, 46012 Valencia, Spain 7 Program on Computational Genomics, Centro de Investigacin Prncipe Felipe (CIPF), c/ Eduardo Primo Yfera no. 13, 46012Valencia, Spain. (9)2 Centro de Investigacin Biomdica en Red de Enfermed

48、adesRaras (CIBERER), c/ Eduardo Primo Yfera no. 13, 46012 Valencia, Spain 4 Program in Rare and Genetic Diseases and IBV/CSIC Associated Unit, Centro deInvestigacin Prncipe Felipe (CIPF), c/ Eduardo Primo Yfera no. 13, 46012Valencia, Spain 8 Department of Genetic and Molecular Medicine, and Pediatri

49、cInstitute for Rare Diseases (IPER), Hospital Sant Joan de Du, P Sant Joan deDu no. 2, 08950 Barcelona, Spain.Charcot-Marie-Tooth disease (CMT) is a complex disorder with wide geneticheterogeneity. Here we present a new axonal Charcot-Marie-Tooth disease form,associated with the gene microrchidia fa

50、mily CW-type zinc finger 2 (MORC2).Whole-exome sequencing in a family with autosomal dominant segregation identifiedthe novel MORC2 p.R190W change in four patients. Further mutational screening in our axonal Charcot-Marie-Tooth disease clinical series detected two additionalsporadic cases, one patie

51、nt who also carried the same MORC2 p.R190W mutation and another patient that harboured a MORC2 p.S25L mutation. Genetic and in silicostudies strongly supported the pathogenicity of these sequence variants. Thephenotype was variable and included patients with congenital or infantile onset, as well as

52、 others whose symptoms started in the second decade. The patients with early onset developed a spinal muscular atrophy-like picture, whereas in thelater onset cases, the initial symptoms were cramps, distal weakness and sensory impairment. Weakness and atrophy progressed in a random and asymmetric f

53、ashionand involved limb girdle muscles, leading to a severe incapacity in adulthood.Sensory loss was always prominent and proportional to disease severity.Electrophysiological studies were consistent with an asymmetric axonal motor and sensory neuropathy, while fasciculations and myokymia were recor

54、ded ratherfrequently by needle electromyography. Sural nerve biopsy revealed pronouncedmultifocal depletion of myelinated fibres with some regenerative clusters andoccasional small onion bulbs. Morc2 is expressed in both axons and Schwann cells of mouse peripheral nerve. Different roles in biologica

55、l processes have beendescribed for MORC2. As the silencing of Charcot-Marie-Tooth disease genes havebeen associated with DNA damage response, it is tempting to speculate that aderegulation of this pathway may be linked to the axonal degeneration observed inMORC2 neuropathy, thus adding a new pathoge

56、nic mechanism to the long list ofcauses of Charcot-Marie-Tooth disease. The Author (2015). Published by Oxford University Press on behalf of theGuarantors of Brain. All rights reserved. For Permissions, please email:journals.permissions.PMID: 26497905 PubMed - as supplied by publisher9. J Neurol. 20

57、15 Oct 17. Epub ahead of printNerve ultrasound in the differentiation of multifocal motor neuropathy (MMN) and amyotrophic lateral sclerosis with predominant lower motor neuron disease(ALS/LMND).Loewenbrck KF(1), Liesenberg J(2), Dittrich M(2,)(3), Schfer J(2), PatznerB(4), Trausch B(4), Machetanz J

58、(5), Hermann A(2,)(6), Storch A(7,)(8,)(9).Author information: (1)Division of Neurodegenerative Diseases, Department of Neurology, TechnischeUniversitt Dresden, Fetscherstrasse 74, 01307, Dresden, Germany.kai.loewenbrueckuniklinikum-dresden.de. (2)Division of NeurodegenerativeDiseases, Department of

59、 Neurology, Technische Universitt Dresden,Fetscherstrasse 74, 01307, Dresden, Germany. (3)Department of Neurology,Elblandkliniken, 01662, Meissen, Germany. (4)Department of Neurology, SaxonHospital Arnsdorf, 01477, Arnsdorf, Germany. (5)Department of Neurology, HospitalDresden Neustadt, 01129, Dresd

60、en, Germany. (6)German Center for NeurodegenerativeDiseases (DZNE), 18147, Rostock, Germany. (7)Division of NeurodegenerativeDiseases, Department of Neurology, Technische Universitt Dresden,Fetscherstrasse 74, 01307, Dresden, Germany. Alexander.Storchmed.uni-rostock.de.(8)German Center for Neurodege

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