Page 101 - Read Online
P. 101

in remitting childhood absence epilepsy.  Am J Hum Genet   with Stiff‑man syndrome, epilepsy, and type I diabetes mellitus. N Engl
             2008;82:1249‑61.                                    J Med 1988;318:1012‑20.
          30.  Macdonald RL, Kelly KM. Antiepileptic drug mechanisms of action.   48.  McKeon A, Robinson MT, McEvoy KM, Matsumoto JY, Lennon VA,
             Epilepsia 1995;36 Suppl 2:S2‑12.                    Ahlskog JE, Pittock SJ. Stiff‑man syndrome and variants: clinical
          31.  Gonzalez MI. The possible role of GABAA receptors and gephyrin in   course, treatments, and outcomes. Arch Neurol 2012;69:230‑8.
             epileptogenesis. Front Cell Neurosci 2013;7:113.  49.  Pittock SJ, Lucchinetti CF, Parisi JE, Benarroch EE, Mokri B, Stephan
          32.  Ohkawa T, Satake  S,  Yokoi  N,  Miyazaki  Y,  Ohshita T, Sobue  G,   CL, Kim KK, Kilimann MW, Lennon VA. Amphiphysin autoimmunity:
             Takashima H, Watanabe O, Fukata Y, Fukata M. Identification and   paraneoplastic accompaniments. Ann Neurol 2005;58:96‑107.
             characterization of GABA(A) receptor autoantibodies in autoimmune   50.  Baizabal‑Carvallo  JF,  Jankovic  J.  Stiff‑person  syndrome:  insights
             encephalitis. J Neurosci 2014;34:8151‑63.           into a complex autoimmune disorder. J Neurol Neurosurg Psychiatry
          33.  Petit‑Pedrol M, Armangue T, Peng X, Bataller L, Cellucci T, Davis R,   2015;86:840‑8.
             McCracken L, Martinez‑Hernandez E, Mason WP, Kruer MC, Ritacco   51.  Pleasure D. GlyRalpha1, GAD65, amphiphysin, and gephyrin
             DG, Grisold W, Meaney BF, Alcala C, Sillevis‑Smitt P, Titulaer MJ,   autoantibodies: leading or supporting roles in stiff‑person disorders?
             Balice‑Gordon R, Graus F, Dalmau J. Encephalitis with refractory   JAMA Neurol 2013;70:16‑7.
             seizures, status epilepticus, and antibodies to the GABAA receptor: a   52.  Woodhall M, Coban A, Waters P, Ekizoglu E, Kurtuncu M, Shugaiv E,
             case series, characterisation of the antigen, and analysis of the effects   Turkoglu R, Akman‑Demir G, Eraksoy M, Vincent A, Tuzun E. Glycine
             of antibodies. Lancet Neurol 2014;13:276‑86.        receptor and myelin oligodendrocyte glycoprotein antibodies in Turkish
          34.  Benarroch EE. Glycine and its synaptic interactions: functional and   patients with neuromyelitis optica. J Neurol Sci 2013;335:221‑3.
             clinical implications. Neurology 2011;77:677‑83.  53.  Martinez‑Hernandez E, Sepulveda M, Rostasy K, Hoftberger R,
          35.  Martinez‑Martinez  P,  Molenaar PC,  Losen  M,  de Baets  MH.   Graus F, Harvey RJ, Saiz A, Dalmau J. Antibodies to aquaporin
             Glycine receptor antibodies in PERM: a new channelopathy.  Brain   4, myelin‑oligodendrocyte glycoprotein, and the glycine receptor
             2014;137:2115‑6.                                    alpha1 subunit in patients with isolated optic neuritis. JAMA Neurol
          36.  Chung SK, Vanbellinghen JF, Mullins JG, Robinson A, Hantke J,   2015;72:187‑93.
             Hammond CL, Gilbert DF,  Freilinger M, Ryan M, Kruer MC, Masri A,   54.  Ekizoglu E, Tuzun E, Woodhall M, Lang B, Jacobson L, Icoz S, Bebek
             Gurses C, Ferrie C, Harvey K, Shiang R, Christodoulou J, Andermann   N, Gurses C, Gokyigit A, Waters P, Vincent A, Baykan B. Investigation
             F, Andermann E, Thomas RH, Harvey RJ, Lynch JW, Rees MI.   of neuronal autoantibodies in two different focal epilepsy syndromes.
             Pathophysiological mechanisms  of dominant  and  recessive  GLRA1   Epilepsia 2014;55:414‑22.
             mutations in hyperekplexia. J Neurosci 2010;30:9612‑20.  55.  Turner  MR,  Irani  SR,  Leite  MI,  Nithi  K,Vincent  A,  Ansorge  O.
          37.  Legendre  P.  The  glycinergic  inhibitory  synapse.  Cell  Mol  Life  Sci   Progressive encephalomyelitis with rigidity and myoclonus: glycine
             2001;58:760‑93.                                     and NMDA receptor antibodies. Neurology 2011;77:439‑43.
          38.  Waldvogel HJ, Baer K, Eady E, Allen KL, Gilbert RT, Mohler   56.  Stern WM, Howard R, Chalmers RM, Woodhall MR, Waters P,
             H, Rees MI, Nicholson LF,  Faull RL. Differential localization of   Vincent A, Wickremaratchi MM. Glycine receptor antibody mediated
             gamma‑aminobutyric acid type A and glycine receptor subunits and   Progressive Encephalomyelitis with Rigidity and Myoclonus (PERM): a
             gephyrin in the human pons, medulla oblongata and uppermost   rare but treatable neurological syndrome. Pract Neurol 2014;14:123‑7.
             cervical segment of the spinal cord: an immunohistochemical study. J   57.  Derksen A, Stettner M, Stocker W, Seitz RJ. Antiglycine receptor‑related
             Comp Neurol 2010;518:305‑28.                        stiff limb syndrome in a patient with chronic lymphocytic leukaemia.
          39.  Carvajal‑Gonzalez A, Leite MI, Waters P, Woodhall M, Coutinho   BMJ Case Rep 2013;doi: 10.1136/bcr‑2013‑008667.
             E, Balint B, Lang B, Pettingill P, Carr A, Sheerin UM, Press R,   58.  Kyskan R, Chapman K, Mattman A, Sin D. Antiglycine receptor
             Lunn MP, Lim M, Maddison P, Meinck HM, Vandenberghe W,   antibody and encephalomyelitis with rigidity and myoclonus (PERM)
             Vincent  A.  Glycine  receptor antibodies  in PERM and related   related to small cell lung cancer. BMJ Case Rep 2013;doi: 10.1136/
             syndromes: characteristics, clinical features and outcomes. Brain   bcr‑2013‑010027.
             2014;137:2178‑92.                                59.  Zuliani L, Ferlazzo E, Andrigo C, Casano A, Cianci V, Zoccarato M,
          40.  Butler MH, Hayashi A, Ohkoshi N, Villmann C, Becker CM, Feng G,   Leite MI, Waters P, Woodhall M, Della Mora E, Morra M, Giometto
             De Camilli P, Solimena M. Autoimmunity to gephyrin in Stiff‑man   B,  Aguglia  U,  Vincent  A.  Glycine  receptor  antibodies  in  2  cases  of
             syndrome. Neuron 2000;26:307‑12.                    new, adult‑onset epilepsy.  Neurol Neuroimmunol  Neuroinflamm
          41.  Hutchinson M, Waters P, McHugh J, Gorman G, O’Riordan S,   2014;1:e16.
             Connolly S, Hager H, Yu P, Becker CM, Vincent A. Progressive   60.  Clerinx K, Breban T, Schrooten M, Leite MI, Vincent A, Verschakelen
             encephalomyelitis, rigidity, and myoclonus: a novel glycine receptor   J, Tousseyn T, Vandenberghe W. Progressive encephalomyelitis with
             antibody. Neurology 2008;71:1291‑2.                 rigidity  and  myoclonus:  resolution  after  thymectomy.  Neurology
          42.  McKeon  A,  Martinez‑Hernandez  E,  Lancaster  E,  Matsumoto  JY,   2011;76:303‑4.
             Harvey RJ, McEvoy KM, Pittock SJ, Lennon VA, Dalmau J. Glycine   61.  Titulaer  MJ,  McCracken  L,  Gabilondo  I,  Armangue  T,  Glaser  C,
             receptor autoimmune spectrum with Stiff‑man syndrome phenotype.   Iizuka T, Honig LS, Benseler SM, Kawachi I, Martinez‑Hernandez
             JAMA Neurol 2013;70:44‑50.                          E, Aguilar E, Gresa‑Arribas N, Ryan‑Florance N, Torrents A, Saiz A,
          43.  Moersch FP, Woltman HW. Progressive fluctuating muscular rigidity and   Rosenfeld MR, Balice‑Gordon R, Graus F, Dalmau J. Treatment and
             spasm (“stiff‑man” syndrome); report of a case and some observations   prognostic factors for long‑term outcome in patients with anti‑NMDA
             in 13 other cases. Proc Staff Meet Mayo Clin 1956;31:421‑7.  receptor encephalitis: an observational cohort study. Lancet Neurol
          44.  Molina JA, Porta J, Garcia‑Morales I, Bermejo PF, Jimenez‑Jimenez   2013;12:157‑65.
             FJ. Treatment with intravenous prednisone and immunoglobin in a   62.  Zuliani L, Graus F, Giometto B, Bien C, Vincent A. Central nervous
             case of progressive encephalomyelitis with rigidity. J Neurol Neurosurg   system neuronal  surface antibody associated syndromes: review
             Psychiatry 2000;68:395‑6.                           and guidelines for recognition.  J Neurol Neurosurg Psychiatry
          45.  Whiteley AM, Swash M, Urich H. Progressive encephalomyelitis with   2012;83:638‑45.
             rigidity. Brain 1976;99:27‑42.                   63.  Toledano M, Britton JW, McKeon A, Shin C, Lennon VA, Quek AM,
          46.  Campbell AM, Garland H. Subacute myoclonic spinal neuronitis. J   So E, Worrell GA, Cascino GD, Klein CJ, Lagerlund TD, Wirrell
             Neurol Neurosurg Psychiatry 1956;19:268‑74.         EC, Nickels KC, Pittock SJ. Utility of an immunotherapy trial in
          47.  Solimena M, Folli F, Denis‑Donini S, Comi GC, Pozza G, De Camilli P,   evaluating patients with presumed autoimmune epilepsy. Neurology
             Vicari AM. Autoantibodies to glutamic acid decarboxylase in a patient   2014;82:1578‑86.











            92                                                     Neuroimmunol Neuroinfammation | Volume 3 | March 28, 2016
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