GLRA1

Summary

Gene Symbol: GLRA1
Description: glycine receptor alpha 1
Alias: HKPX1, STHE, glycine receptor subunit alpha-1, glycine receptor 48 kDa subunit, glycine receptor strychnine-binding subunit
Species: human

Top Publications

  1. ncbi Progressive encephalomyelitis with rigidity presenting as a stiff-person syndrome
    Neziha Gouider-Khouja
    Service de Neurologie, Institut National de Neurologie, La Rabta, Tunis 1007, Tunisia
    Parkinsonism Relat Disord 8:285-8. 2002
  2. ncbi Relaxation of glycine receptor and onconeural gene transcription control in NRSF deficient small cell lung cancer cell lines
    Sabine B Neumann
    Institut fur Biochemie, Emil Fischer Zentrum, Friedrich Alexander Universitat Erlangen Nurnberg, Fahrstrasse 17, 91054, Erlangen, Germany
    Brain Res Mol Brain Res 120:173-81. 2004
  3. ncbi [Interstitial pneumonia associated with stiff-person syndrome]
    Satoshi Hokari
    Division of Respiratory Medicine, Department of Homeostatic Regulation and Development, Niigata University Graduate School of Medical and Dental Sciences
    Nihon Kokyuki Gakkai Zasshi 48:162-5. 2010
  4. ncbi Startle disease mutations reduce the agonist sensitivity of the human inhibitory glycine receptor
    S Rajendra
    School of Physiology and Pharmacology, University of New South Wales, Sydney, Australia
    J Biol Chem 269:18739-42. 1994
  5. pmc Decreased agonist affinity and chloride conductance of mutant glycine receptors associated with human hereditary hyperekplexia
    D Langosch
    Max Planck Institut für Hirnforschung, Frankfurt, Germany
    EMBO J 13:4223-8. 1994
  6. ncbi Novel GLRA1 missense mutation (P250T) in dominant hyperekplexia defines an intracellular determinant of glycine receptor channel gating
    B Saul
    Institut fur Biochemie, Universitat Erlangen Nurnberg, D 91054 Erlangen, Germany
    J Neurosci 19:869-77. 1999
  7. pmc Kinetic and mutational analysis of Zn2+ modulation of recombinant human inhibitory glycine receptors
    B Laube
    Department of Neurochemistry, Max Planck Institute for Brain Research, Deutschordenstrasse 46, 60528 Frankfurt am Main, Germany
    J Physiol 522:215-30. 2000
  8. pmc Cation-selective mutations in the M2 domain of the inhibitory glycine receptor channel reveal determinants of ion-charge selectivity
    Angelo Keramidas
    Department of Physiology and Pharmacology, University of New South Wales, Sydney 2052, Australia
    J Gen Physiol 119:393-410. 2002
  9. pmc Binding site stoichiometry and the effects of phosphorylation on human alpha1 homomeric glycine receptors
    Luc J Gentet
    John Curtin School of Medical Research, Australian National University, Canberra, ACT 0200, Australia
    J Physiol 544:97-106. 2002
  10. pmc Kinetic determinants of agonist action at the recombinant human glycine receptor
    Trevor M Lewis
    Garvan Institute of Medical Research, 384 Victoria Street, Darlinghurst, Sydney, NSW 2010, Australia
    J Physiol 549:361-74. 2003

Detail Information

Publications246 found, 100 shown here

  1. ncbi Progressive encephalomyelitis with rigidity presenting as a stiff-person syndrome
    Neziha Gouider-Khouja
    Service de Neurologie, Institut National de Neurologie, La Rabta, Tunis 1007, Tunisia
    Parkinsonism Relat Disord 8:285-8. 2002
    ..The observation reported in this paper gives evidence that both the disorders are probably two clinical presentations of the same pathogenic process...
  2. ncbi Relaxation of glycine receptor and onconeural gene transcription control in NRSF deficient small cell lung cancer cell lines
    Sabine B Neumann
    Institut fur Biochemie, Emil Fischer Zentrum, Friedrich Alexander Universitat Erlangen Nurnberg, Fahrstrasse 17, 91054, Erlangen, Germany
    Brain Res Mol Brain Res 120:173-81. 2004
    ..of 5'-flanking regions of glycine receptor (GlyR) subunit genes revealed a consensus motif for NRSE in the GLRA1 and GLRA3, but not in GLRB, genes...
  3. ncbi [Interstitial pneumonia associated with stiff-person syndrome]
    Satoshi Hokari
    Division of Respiratory Medicine, Department of Homeostatic Regulation and Development, Niigata University Graduate School of Medical and Dental Sciences
    Nihon Kokyuki Gakkai Zasshi 48:162-5. 2010
    ..He has needed continuous rehabilitation due to the progression of neurological symptoms despite the partial efficacy of anti-epilepsy agents. We report a case of interstitial pneumonia with stiff-person syndrome...
  4. ncbi Startle disease mutations reduce the agonist sensitivity of the human inhibitory glycine receptor
    S Rajendra
    School of Physiology and Pharmacology, University of New South Wales, Sydney, Australia
    J Biol Chem 269:18739-42. 1994
    ..Thus, startle disease reduces the efficacy of glycinergic inhibitory neurotransmission by producing GlyRs with diminished agonist responsiveness. Our results show that startle disease mutations define a novel receptor activation site...
  5. pmc Decreased agonist affinity and chloride conductance of mutant glycine receptors associated with human hereditary hyperekplexia
    D Langosch
    Max Planck Institut für Hirnforschung, Frankfurt, Germany
    EMBO J 13:4223-8. 1994
    ..In addition, our data reveal that structural modifications of the ion-channel region can affect agonist binding to the glycine receptor...
  6. ncbi Novel GLRA1 missense mutation (P250T) in dominant hyperekplexia defines an intracellular determinant of glycine receptor channel gating
    B Saul
    Institut fur Biochemie, Universitat Erlangen Nurnberg, D 91054 Erlangen, Germany
    J Neurosci 19:869-77. 1999
    Missense mutations as well as a null allele of the human glycine receptor alpha1 subunit gene GLRA1 result in the neurological disorder hyperekplexia [startle disease, stiff baby syndrome, Mendelian Inheritance in Man (MIM) #149400]...
  7. pmc Kinetic and mutational analysis of Zn2+ modulation of recombinant human inhibitory glycine receptors
    B Laube
    Department of Neurochemistry, Max Planck Institute for Brain Research, Deutschordenstrasse 46, 60528 Frankfurt am Main, Germany
    J Physiol 522:215-30. 2000
    ..5. Our data support the view that Zn2+ modulates different steps of the receptor binding and gating cycle via specific allosteric high- and low-affinity binding sites in the extracellular N-terminal region of the GlyR alpha1 subunit...
  8. pmc Cation-selective mutations in the M2 domain of the inhibitory glycine receptor channel reveal determinants of ion-charge selectivity
    Angelo Keramidas
    Department of Physiology and Pharmacology, University of New South Wales, Sydney 2052, Australia
    J Gen Physiol 119:393-410. 2002
    ..This result provides evidence that the diameter of the ion channel is also an important factor in ion charge selectivity...
  9. pmc Binding site stoichiometry and the effects of phosphorylation on human alpha1 homomeric glycine receptors
    Luc J Gentet
    John Curtin School of Medical Research, Australian National University, Canberra, ACT 0200, Australia
    J Physiol 544:97-106. 2002
    ..The model suggests that only three binding sites on the glycine channel are functional, while the remaining two binding sites are 'silent', possibly due to strong negative cooperativity...
  10. pmc Kinetic determinants of agonist action at the recombinant human glycine receptor
    Trevor M Lewis
    Garvan Institute of Medical Research, 384 Victoria Street, Darlinghurst, Sydney, NSW 2010, Australia
    J Physiol 549:361-74. 2003
    ..Based upon these data, we propose a kinetic scheme with three independent open states, where the opening rates are dependent upon the activating agonist, while the closing rates are an intrinsic characteristic of the receptor...
  11. ncbi Ethanol potentiation of glycine receptors expressed in Xenopus oocytes antagonized by increased atmospheric pressure
    Daryl L Davies
    Alcohol and Brain Research Laboratory, Department of Molecular Pharmacology and Toxicology, School of Pharmacy, University of Southern California, Los Angeles, CA 90033, USA
    Alcohol Clin Exp Res 27:743-55. 2003
    ....
  12. ncbi The beta subunit determines the ligand binding properties of synaptic glycine receptors
    Joanna Grudzinska
    Department of Neurochemistry, Max Planck Institute for Brain Research, Deutschordenstrasse 46, D 60528 Frankfurt am Main, Germany
    Neuron 45:727-39. 2005
    ..Because the beta subunit anchors GlyRs at synaptic sites, our results have important implications for the biosynthesis, clustering, and pharmacology of synaptic GlyRs...
  13. pmc Mapping of disulfide bonds within the amino-terminal extracellular domain of the inhibitory glycine receptor
    Nicolas Vogel
    Institut fur Biochemie, Emil Fischer Zentrum, Universitat Erlangen Nurnberg, Erlangen 91054, Germany
    J Biol Chem 284:36128-36. 2009
    ..Our results indicate that the GlyR ECD forms both a Cys-loop and a GlyR-specific disulfide bond. In addition, cysteine residues appear to be important for protein maturation in vivo...
  14. doi Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia
    Seo Kyung Chung
    Institute of Life Science, School of Medicine, Swansea University, Swansea, United Kingdom
    J Neurosci 30:9612-20. 2010
    ..is primarily caused by inherited mutations in the genes encoding the glycine receptor (GlyR) alpha1 subunit (GLRA1) and the presynaptic glycine transporter GlyT2 (SLC6A5)...
  15. pmc Analysis of GLRA1 in hereditary and sporadic hyperekplexia: a novel mutation in a family cosegregating for hyperekplexia and spastic paraparesis
    F V Elmslie
    Department of Paediatrics, University College London, Medical School, Rayne Institute, London, UK
    J Med Genet 33:435-6. 1996
    ..Mutations have been described in GLRA1, the gene encoding the alpha 1 subunit of the glycine receptor, in dominant families with hyperekplexia and in a ..
  16. pmc Single channel analysis of conductance and rectification in cation-selective, mutant glycine receptor channels
    Andrew J Moorhouse
    Department of Physiology and Pharmacology, University of New South Wales, Sydney 2052, Australia
    J Gen Physiol 119:411-25. 2002
    ..These results also further confirm the role of external pore vestibule electrostatics in determining the conductance and rectification properties of the ligand-gated ion channels...
  17. ncbi Functional recovery of glycine receptors in spastic murine model of startle disease
    Annamaria Molon
    Research Center for Genetic Medicine, Children s National Medical Center, Department of Pediatrics, 111 Michigan Ave NW, Washington, DC 20010, USA
    Neurobiol Dis 21:291-304. 2006
    ..littermates that recovered from symptoms showed strong over-expression of the glycine receptor alpha 1 subunit (Glra1), and increased myelination and synaptic plasticity...
  18. ncbi The frameshift mutation oscillator (Glra1(spd-ot)) produces a complete loss of glycine receptor alpha1-polypeptide in mouse central nervous system
    C Kling
    Institut fur Biochemie, Universitat Erlangen Nurnberg, Erlangen, Germany
    Neuroscience 78:411-7. 1997
    Mice homozygous for the recessive mutation oscillator (Glra1(spd-ot)) suffer from a complex motor disorder leading to death within three weeks after birth...
  19. pmc Novel expression of a functional glycine receptor chloride channel that attenuates contraction in airway smooth muscle
    Peter D Yim
    Department of Anesthesiology, College of Physicians and Surgeons, Columbia University, New York, New York, USA
    FASEB J 25:1706-17. 2011
    ..Messenger RNA for β (GLRB), α1 (GLRA1), α2 (GLRA2), and α4 (GLRA4) subunits were found in human (Homo sapiens) and guinea pig (Cavia porcellus) ..
  20. ncbi Increased startle responses in mice carrying mutations of glycine receptor subunit genes
    M Koch
    Universitat Tubingen, Germany
    Neuroreport 7:806-8. 1996
    An exaggerated startle response caused by mutations of the alpha 1 subunit gene of the inhibitory glycine receptor (GLRA1) is the key symptom of human hyperekplexia or startle disease...
  21. ncbi The human glycine receptor beta subunit gene (GLRB): structure, refined chromosomal localization, and population polymorphism
    N Milani
    Institut fur Biochemie, Universitat Erlangen Nurnberg, Germany
    Genomics 50:341-5. 1998
    The glycine receptor of the human CNS comprises ligand-binding alpha 1 and structural beta subunits encoded by the GLRA1 and GLRB genes, respectively...
  22. ncbi The use of intravenous immunoglobulin in the treatment of autoimmune neuromuscular diseases: evidence-based indications and safety profile
    Marinos C Dalakas
    Neuromuscular Diseases Section, National Institute of Neurological Diseases and Stroke, National Institutes of Health, MSC 1382, Room 4N248, Building 10, 10 Center Drive, Bethesda, MD 20892 1382, USA
    Pharmacol Ther 102:177-93. 2004
    ..v.Ig with other immunosuppressive drugs...
  23. ncbi Role of IVIg in autoimmune, neuroinflammatory and neurodegenerative disorders of the central nervous system: present and future prospects
    Marinos C Dalakas
    Neuromuscular Diseases Section, NINDS, National Institutes of Health, Building 10, Room 4N248, 10 Center Drive MSC, Bethesda, MD 20892 1382, USA
    J Neurol 253:V25-32. 2006
    ..Emerging data suggest that IVIg may have a role not only in certain antibody-mediated CNS diseases but also in some neurodegenerative disorders associated with "neuroinflammation" mediated by proinflammatory cytokines...
  24. ncbi Brain gamma-aminobutyric acid changes in stiff-person syndrome
    Lucien M Levy
    Neuroimaging Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA
    Arch Neurol 62:970-4. 2005
    ....
  25. ncbi Guidelines on the use of intravenous immune globulin for neurologic conditions
    Tom Feasby
    IVIG Hematology and Neurology Expert Panels
    Transfus Med Rev 21:S57-107. 2007
    ..Development and dissemination of evidence-based clinical practice guidelines may help to facilitate appropriate use of IVIG...
  26. doi Genome-wide analysis of copy number changes and loss of heterozygosity in myelodysplastic syndrome with del(5q) using high-density single nucleotide polymorphism arrays
    Li Wang
    LRF Molecular Haematology Unit, Nuffield Department of Clinical, Laboratory Sciences, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DU, UK
    Haematologica 93:994-1000. 2008
    ..Single nucleotide polymorphism array analysis has been shown to detect not only gene deletions but also regions of uniparental disomy that can pinpoint particular regions for mutation analysis...
  27. ncbi [A case of immune-mediated encephalopathy showing refractory epilepsy and extensive brain MRI lesions associated with anti-glutamic acid decarboxylase antibody]
    Yuko Kobayakawa
    Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University
    Rinsho Shinkeigaku 50:92-7. 2010
    ..This case suggests that anti-GAD antibodies could contribute to unexplained encephalopathy with extensive brain MRI lesions and drug-resistant symptomatic epilepsy...
  28. ncbi [Anesthetic management for thymectomy in a patient with stiff-person syndrome]
    Taketo Nakamura
    Department of Anesthesiology and Intensive Care Medicine, Graduate School of Medicine, Osaka City University, Osaka 545 8586
    Masui 56:1200-2. 2007
    ..Since many anesthetics are respiratory suppressants that can delay the recovery of respiratory function, careful monitoring of respiratory condition is required postoperatively...
  29. pmc Characterization of CD4+ T cells specific for glutamic acid decarboxylase (GAD65) and proinsulin in a patient with stiff-person syndrome but without type 1 diabetes
    Arno Hänninen
    Department of Medical Microbiology and Immunology, University of Turku, Turku, Finland
    Diabetes Metab Res Rev 26:271-9. 2010
    ..Approximately 30% of patients with SPS develop diabetes, yet, it is unclear to which extent co-existing autoimmunity to GAD65 and other islet autoantigens determines the risk of developing T1D...
  30. ncbi Neurologic paraneoplastic syndromes
    E J Dropcho
    Department of Neurology, Indiana University Medical Center, Indianapolis 46202, USA
    J Neurol Sci 153:264-78. 1998
    ..Among different syndromes, a varied proportion of patients shows neurologic improvement with immunosuppressive treatments; it is likely that many patients have already suffered irreversible neuronal injury at the time of diagnosis...
  31. doi Antibodies and neuronal autoimmune disorders of the CNS
    Francesc Graus
    Servei de Neurologia, Hospital Clinic, Institut d Investigacio Biomedica August Pi i Sunyer, Villarroel 170, 08036, Barcelona, Spain
    J Neurol 257:509-17. 2010
    ....
  32. ncbi Effects of anti-glutamic acid decarboxylase antibodies associated with neurological diseases
    Mario Ubaldo Manto
    Laboratoire de Neurologie Expérimentale, Hopital Erasme, Universite Libre de Bruxelles, Bruxelles, Belgium
    Ann Neurol 61:544-51. 2007
    ..However, the pathogenic role of GAD-Ab in neurological diseases remains a matter of debate...
  33. ncbi Intravenous immunoglobulin in patients with anti-GAD antibody-associated neurological diseases and patients with inflammatory myopathies: effects on clinicopathological features and immunoregulatory genes
    Marinos C Dalakas
    Neuromuscular Diseases Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA
    Clin Rev Allergy Immunol 29:255-69. 2005
    ..In tissues, IVIg restores tissue cytoarchitecture by suppressing the inflammatory mediators at the protein, mRNA, and gene level...
  34. ncbi Efficacy of various intravenous immunoglobulin therapy protocols in autoimmune and chronic inflammatory disorders
    Hakan M Gürcan
    Department of Medicine, Center for Blistering Diseases, New England Baptist Hospital, Boston, MA 02120, USA
    Ann Pharmacother 41:812-23. 2007
    ..To determine the efficacy of various intravenous immunoglobulin (IVIG) protocols used in the treatment of autoimmune and chronic inflammatory disorders...
  35. pmc Paraneoplastic neurological syndromes
    Jerome Honnorat
    Inserm U 842, Universite Claude Bernard Lyon 1, Lyon, France
    Orphanet J Rare Dis 2:22. 2007
    ..As PNS are believed to be immune-mediated, suppression of the immune response represents another treatment approach...
  36. doi Paraneoplastic movement disorders
    Robin Grant
    Edinburgh Centre for Neuro Oncology, Western General Hospital, Edinburgh, United Kingdom
    Mov Disord 24:1715-24. 2009
    ..Early identification and treatment sometimes leads to neurological improvement and may improve cancer prognosis. Prognosis is dependent on the tumor type and its likely response to treatment...
  37. ncbi Paraneoplastic effects on neurophthalmologic function
    Debamalya Ray
    Department of Otorhinolaryngology ENT, Blackpool Victoria Hospital, Blackpool, England, U K
    Otol Neurotol 28:860-2. 2007
    ..Few studies have focused on patients presenting with paraneoplastic syndrome before a cancer is identified...
  38. ncbi [Case of antiamphiphysin antibody-positive stiff-person syndrome with breast cancer diagnosed by FDG-PET]
    Yoshiharu Taguchi
    The Department of Neurology, Toyama University Hospital
    Rinsho Shinkeigaku 48:410-4. 2008
    ..If there is possibility of paraneoplastic syndromes like stiff-person syndrome, FDG-PET is very useful for detecting the occult carcinoma...
  39. ncbi Paraneoplastic stiff-person syndrome: passive transfer to rats by means of IgG antibodies to amphiphysin
    Claudia Sommer
    Department of Neurology, University of Wurzburg, Wurzburg, Germany
    Lancet 365:1406-11. 2005
    ..Proof of a causal role of the antibodies is still lacking for this and all other antibody-associated paraneoplastic syndromes of the central nervous system...
  40. ncbi [The use of intravenous immunglobulin in the treatment of autoimmune neuromuscular diseases]
    Maria Judit Molnar
    Orszagos Pszichiatriai es Neurologiai Intezet, Budapest
    Ideggyogy Sz 59:98-106. 2006
    ..For the analysis of pharmacoeconomical aspects and the mechanism(s) of response differences in the same disease categories, further studies are necessary...
  41. ncbi Stiff-person syndrome with acute recurrent peripheral vertigo: possible evidence of gamma aminobutyric acid as a neurotransmitter in the vestibular periphery
    R Teggi
    ENT Department, San Raffaele Hospital, Vita Salute University, Milan, Italy
    J Laryngol Otol 122:636-8. 2008
    ..We report a case of a 58-year-old man suffering from stiff-person syndrome and recurrent peripheral vertigo...
  42. ncbi [Two stiff person cases misdiagnosed as conversion disorder]
    Suzan Ozer
    Hacettepe U Tip Fak, Psikiyatri AD, Cocuk Ruh Sağliği, Ankara
    Turk Psikiyatri Derg 20:392-7. 2009
    ....
  43. pmc Phylogeny of Annelida (Lophotrochozoa): total-evidence analysis of morphology and six genes
    Jan Zrzavý
    Faculty of Science, University of South Bohemia, 370 05 Ceske Budejovice, Czech Republic
    BMC Evol Biol 9:189. 2009
    ..b>SThe "total-evidence" analyses combining morphological and molecular characters have been published for a few annelid ..
  44. ncbi The stiff-person syndrome: an autoimmune disorder affecting neurotransmission of gamma-aminobutyric acid
    L M Levy
    Neuroimaging Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA
    Ann Intern Med 131:522-30. 1999
    ..Results of an ongoing controlled trial will elucidate the role of these agents in the treatment of the disease...
  45. ncbi The stiff-person syndrome. Case report
    C Piovano
    Chair of Anesthesia and Resuscitation, d Annunzio University, Chieti, Italy
    Minerva Anestesiol 68:861-5. 2002
    ..Immunomodulatory agents such as steroids, plasmapheresis and intravenous immunoglobulin, seem to offer substantial improvement...
  46. ncbi [Anesthesia for a patient with stiff-person syndrome]
    Yuta Aoki
    Department of Anesthesiology, Faculty of Medicine, University of Toyama, Toyama 930 0194
    Masui 57:447-9. 2008
    ..Preoperative good symptom control, choice of total intravenous anesthesia (TIVA), and application of the electrical nerve stimulator prevented postoperative hypotonia and resulted in safe anesthetic management...
  47. doi GAD65 IgG autoantibodies in stiff person syndrome: clonality, avidity and persistence
    G Skorstad
    Department of Neurology, Ulleval University Hospital, Oslo, Norway
    Eur J Neurol 15:973-80. 2008
    ..Persistent intrathecal production of IgG autoantibodies against glutamic acid decarboxylase 65 (GAD65 IgG) and oligoclonal IgG of undetermined specificity has been reported in stiff person syndrome (SPS)...
  48. pmc Genetic and radiation hybrid mapping of the hyperekplexia region on chromosome 5q
    S G Ryan
    Department of Pediatrics, University of Texas Health Science Center, San Antonio 78284
    Am J Hum Genet 51:1334-43. 1992
    Hyperekplexia, or startle disease (STHE), is an autosomal dominant neurologic disorder characterized by muscular rigidity of central nervous system origin, particularly in the neonatal period, and by an exaggerated startle response to ..
  49. ncbi Stiff person syndrome: quantification, specificity, and intrathecal synthesis of GAD65 antibodies
    M C Dalakas
    Neuromuscular Diseases Section, National Institute of Neurological Diseases and Stroke, NIH, Bethesda, MD 20892 1382, USA
    Neurology 57:780-4. 2001
    ..To characterize the specificity of anti-GAD(65) antibodies in patients with stiff person syndrome (SPS), quantify antibody titers, and examine antibody production within the CNS...
  50. ncbi Applications of transcranial magnetic stimulation in movement disorders
    Roberto Cantello
    Department of Medical Sciences, Section of Neurology, School of Medicine, Amedeo Avogadro University, Novara, Italy
    J Clin Neurophysiol 19:272-93. 2002
    ..There is reason to predict that TMS, with its continuous technical refinement, will prove even more helpful in the near future. Then, research achievements are reasonably expected to spill over into clinical practice...
  51. pmc Central nervous system destruction mediated by glutamic acid decarboxylase-specific CD4+ T cells
    Amanda R Burton
    Department of Immunology, St Jude Children s Research Hospital, 262 Danny Thomas Place, Memphis, TN 38105 3678, USA
    J Immunol 184:4863-70. 2010
    ..These findings suggest that GAD65-reactive CD4(+) T cells alone mediate a lethal encephalomyelitis-like disease that may serve as a useful model to study GAD65-mediated diseases of the CNS...
  52. ncbi A rare saccade velocity profile in Stiff-Person Syndrome with cerebellar degeneration
    Ari Z Zivotofsky
    Gonda Brain Research Center, Bar Ilan University, Ramat Gan 52900, Israel
    Brain Res 1093:135-40. 2006
    ..In addition, this unusual saccadic velocity profile may have important implications for modeling the saccadic system and furthering a complete understanding of saccade generation...
  53. ncbi Scleritis in a person with stiff-person syndrome
    Mehryar Taban
    Department of Ophthalmology, Cole Eye Institute, Cleveland Clinic, Cleveland, OH 44195, USA
    Ocul Immunol Inflamm 15:37-9. 2007
    ..To describe a case of anterior scleritis in a patient with stiff-person syndrome...
  54. ncbi [Influence of uncinate process on aerodynamic characteristics of nasal cavity and maxillary sinus]
    Guan xia Xiong
    Otorhinolaryngology Hospital, First Affiliated Hospital of Sun Yat sen University, Guangzhou 510080, China
    Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi 44:10-5. 2009
    ..This study aimed to investigate the influence of uncinate process on air flow velocity, trace, distribution, air pressure, as well as the air flow exchange of nasal cavity and paranasal sinuses...
  55. ncbi Using immunoglobulins in muscular disease treatment
    Refik Pul
    Department of Neurology, Hannover Medical School, Carl Neuberg Street 1, 30625 Hannover, Germany
    Expert Opin Biol Ther 8:1143-50. 2008
    ..This led to the licensing and recommendation of IVIg as first-line treatment for Kawasaki disease, idiopathic thrombocytopenic purpura and Guillain-Barré syndrome...
  56. ncbi Stiff-person syndrome
    Beth Brianna Murinson
    Department of Neurology, Johns Hopkins School of Medicine, Baltimore, Maryland 21205, USA
    Neurologist 10:131-7. 2004
    ..Stiff-person syndrome (SPS) is a rare neurologic disorder with autoimmune features. It is characterized by progressive, severe muscle rigidity or stiffness most prominently affecting the spine and lower extremities...
  57. doi A case of stiff-person syndrome, type 1 diabetes, celiac disease and dermatitis herpetiformis
    Eoin P O'Sullivan
    Department of Diabetes and Endocrinology, Beaumont Hospital, Dublin 9, Ireland
    Clin Neurol Neurosurg 111:384-6. 2009
    ..We discuss why SPS and type 1 diabetes co-exist in only a minority of cases and speculate on the underlying mechanism of the association with CD and dermatitis herpetiformis in our patient...
  58. ncbi Startle disease in an Italian family by mutation (K276E): The alpha-subunit of the inhibiting glycine receptor
    M Seri
    Laboratorio di Genetica Molecolare, Istituto G Gaslini, Genova, Italy
    Hum Mutat 9:185-7. 1997
  59. ncbi Antigenic differences between neurological and diabetic patients with anti-glutamic acid decarboxylase antibodies
    M Vianello
    Department of Neurology and Psychiatry Sciences Second Clinic, University of Padua, Italy
    Eur J Neurol 12:294-9. 2005
    ..A working proposal is therefore that type 1 diabetic patients with unusual neurological symptoms should be tested for GADAb both by RIA and IHC...
  60. doi The immunological basis for treatment of stiff person syndrome
    Trygve Holmøy
    Department of Neurology, Oslo University Hospital Ulleval, Oslo, Norway
    J Neuroimmunol 231:55-60. 2011
    ..Their pathogenic role has therefore been questioned. We here discuss the role of autoantibodies and T cells in SPS...
  61. pmc Mutation of a zinc-binding residue in the glycine receptor α1 subunit changes ethanol sensitivity in vitro and alcohol consumption in vivo
    Lindsay M McCracken
    Waggoner Center for Alcohol and Addiction Research, The University of Texas at Austin, Austin, Texas, USA
    J Pharmacol Exp Ther 344:489-500. 2013
    ..Next, we evaluated the in vivo effects of the D80A substitution by using heterozygous Glra1(D80A) knock-in (KI) mice...
  62. doi Anesthetic management of a parturient with hyperekplexia
    Anthony Chau
    From the Division of Obstetric Anesthesia, Department of Anesthesiology, Perioperative and Pain Medicine, Brigham and Women s Hospital, Boston, Massachusetts Harvard Medical School, Boston, Massachusetts Department of Pediatrics, Brigham and Women s Hospital, Boston, Massachusetts and Department of Pediatrics, Boston Children s Hospital, Boston, Massachusetts
    A A Case Rep 4:103-6. 2015
    ..In some cases, a mutation encoding the postsynaptic inhibitory glycine receptors (GLRA1, GLRB) or presynaptic glycine transporter (SLC6A5) resulting in abnormal glycinergic neurotransmission is present...
  63. ncbi High-resolution physical mapping of human 5q31-q33 using three methods: radiation hybrid mapping, interphase fluorescence in situ hybridization, and pulsed-field gel electrophoresis
    J A Warrington
    Department of Biological Chemistry, College of Medicine, University of California, Irvine 92717
    Genomics 24:395-8. 1994
    ..Based upon a combination of data, the predicted order of the 12 loci is cen-ADRB2-PDEA-CSF1R-RPS14-ANX6-SPARC++ +-GLRA1-GLUR1-ADRA1B-IL12- GABRG2-GABRA1-tel...
  64. ncbi High-dose intravenous immune globulin for stiff-person syndrome
    M C Dalakas
    Neuromuscular Diseases Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892 1382, USA
    N Engl J Med 345:1870-6. 2001
    ..Because stiff-person syndrome is most likely immune-mediated, we evaluated the efficacy of intravenous immune globulin...
  65. ncbi Neuropathology and binding studies in anti-amphiphysin-associated stiff-person syndrome
    C Wessig
    Department of Neurology, University of Wurzburg, Germany
    Neurology 61:195-8. 2003
    ..Later, the encephalopathy progressed rapidly and the patient died. Binding studies and the detection of autoantibodies in the patient's CNS as well as the treatment response suggest a pathogenic role of the anti-amphiphysin antibodies...
  66. ncbi Neuromuscular Manifestations of Human West Nile Virus Infection
    A Arturo Leis
    Center for Neuroscience and Neurological Recovery, Methodist Rehabilitation Center, 1350 East Woodrow Wilson, Suite 2, Jackson, MS 39216, USA
    Curr Treat Options Neurol 7:15-22. 2005
    ..In addition, passive immunization with intravenous immune globulin containing WNV-specific antibodies seems promising, based on anecdotal human reports...
  67. ncbi Stiff-person syndrome: autoimmunity and the central nervous system
    B B Murinson
    Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21289, USA
    CNS Spectr 6:427-33. 2001
    ..The use of tricyclic antidepressants and rapid withdrawal from therapy should be avoided...
  68. ncbi Treatment of surgical scars with the cryogen-cooled 595 nm pulsed dye laser starting on the day of suture removal
    Theresa Dressler Conologue
    Department of Dermatology, Walter Reed Army Medical Center, 6900 Georgia Avenue, Washington, DC 20007, USA
    Dermatol Surg 32:13-20. 2006
    ..The optimal time to initiate laser treatment has not been determined. A recent study using a noncooled 585 nm pulsed dye laser starting on the day of suture removal demonstrated substantial improvement in scar appearance...
  69. ncbi Molybdenum cofactor deficiency presenting as neonatal hyperekplexia: a clinical, biochemical and genetic study
    A Macaya
    Grup de Recerca en Malalties Neurometabòliques, Hospital Universitari Vall d Hebron, Barcelona, Spain
    Neuropediatrics 36:389-94. 2005
    ..Molecular analysis of GLRA1 revealed no mutations...
  70. ncbi Stiff person syndrome and motor mononeuropathy with conduction block: a singular association
    S La Spada
    Neurosciences Department, BR 1 District Health Centre, Neurology Unit, A Perrino Hospital, Brindisi, Italy
    Clin Ter 157:237-9. 2006
    ....
  71. doi Pathogenesis and treatment of paraneoplastic neurologic syndrome
    Masami Tanaka
    Department of Neurology and Clinical Research Center, Nishi Niigata Central Hospital, Niigata, Japan
    Expert Rev Neurother 2:901-9. 2002
    ..Here, we discuss previous reports and theoretical treatments based on recent etiological hypothesis of paraneoplastic cerebellar degeneration...
  72. doi Effects of immunotherapy on motor cortex excitability in Stiff Person Syndrome
    Simone Rossi
    Dipartimento di Neuroscienze, Sezione Neurologia, University of Siena, Policlinico Le Scotte, Viale Bracci, 53100, Siena, Italy
    J Neurol 257:281-5. 2010
    ..This represents the first report investigating effects of immunotherapy on cortical excitability in SPS...
  73. doi Rituximab treatment of stiff-person syndrome in a patient with thymoma, diabetes mellitus and autoimmune thyroiditis
    J L Dupond
    Department of Internal Medicine, University Hospital, Boulevard Fleming, Besançon 25030, France
    J Clin Neurosci 17:389-91. 2010
    ..Treatment with rituximab was followed by a complete sustained remission and the disappearance of serum anti-amphiphysin antibodies...
  74. pmc Transmembrane potential of GlyCl-expressing instructor cells induces a neoplastic-like conversion of melanocytes via a serotonergic pathway
    Douglas Blackiston
    Center for Regenerative and Developmental Biology, Biology Department, 200 Boston Avenue, Suite 4600, Tufts University, Medford, MA 02155, USA
    Dis Model Mech 4:67-85. 2011
    ....
  75. ncbi Stiff-person syndrome: a case report and review of the literature
    Steve Egwuonwu
    Department of Internal Medicine, Texas Tech University Health Sciences Center, Paul L Foster School of Medicine, 4800 Alberta Ave, El Paso, TX 79905, USA
    J Natl Med Assoc 102:1261-3. 2010
    ..This case report describes stiff-person syndrome in association with pernicious anemia and diabetes mellitus. A review of the literature discusses the diagnosis and treatment of this rare entity...
  76. doi Stiff-person syndrome (SPS) and anti-GAD-related CNS degenerations: protean additions to the autoimmune central neuropathies
    Fatima Ali
    Division of Rheumatology, Allergy and Clinical Immunology, University of California at Davis School of Medicine, Davis, CA, USA
    J Autoimmun 37:79-87. 2011
    ..Closer study of the mysterious stiff-person syndrome should enhance the understanding of this disease itself, and autoimmunity in general...
  77. doi Stiff person syndrome and pregnancy
    Jennifer Goldkamp
    St Louis University School of Medicine, St Louis, Missouri, USA
    Obstet Gynecol 118:454-7. 2011
    ..It is characterized by muscle spasms triggered by startle, voluntary movement, or tactile or emotional stimuli, occurring predominantly in the axial musculature...
  78. doi A novel approach to paraneoplastic intestinal pseudo-obstruction
    Ambuga Badari
    University at Buffalo, Buffalo, NY, USA
    Support Care Cancer 20:425-8. 2012
    ..The use of rituximab and cyclophosphamide should therefore be considered in patients with CIPO, especially if it can avoid complicated surgical procedures...
  79. ncbi [Autoantibodies to GAD and autoimmune-mediated neurological diseases]
    Hiroshi Mitoma
    Department of Medical Education, Tokyo Medical University
    Nihon Rinsho 71:921-6. 2013
    ..Furthermore, it is reported that intra-administration of the CSF depressed the cerebellum-mediated inhibition on motor cortex. GAD-Ab would cause neurological symptoms depending on the epitope specificity...
  80. pmc Distinct phenotypes in zebrafish models of human startle disease
    Lisa R Ganser
    Department of Biology and Physics, 1000 Chastain Rd, 1202, Kennesaw State University, Kennesaw, GA 30144 USA
    Neurobiol Dis 60:139-51. 2013
    ..Mutations known to cause startle disease have been identified in glycine receptor subunit (GLRA1 and GLRB) and glycine transporter (SLC6A5) genes, which serve essential functions at glycinergic synapses...
  81. pmc Glycine receptor antibodies in PERM and related syndromes: characteristics, clinical features and outcomes
    Alexander Carvajal-González
    1 Nuffield Department of Clinical Neurosciences, John Radcliffe Hospital, Oxford OX3 9DU, UK
    Brain 137:2178-92. 2014
    ..The presence of glycine receptor antibodies should help to identify a disease that responds to immunotherapies, but these treatments may need to be sustained, relapses can occur and maintenance immunosuppression may be required. ..
  82. doi Stiff-person syndrome: insights into a complex autoimmune disorder
    José Fidel Baizabal-Carvallo
    Department of Neurology, Parkinson s Disease Center and Movement Disorders Clinic, Baylor College of Medicine, Houston, Texas, USA
    J Neurol Neurosurg Psychiatry 86:840-8. 2015
    ..Treatment of SPS with drugs that increase the GABAergic tone combined with immunotherapy can improve the neurological manifestations of these patients. The prognosis, however, is unpredictable and spontaneous remissions are unlikely...
  83. pmc Efficacy of Intravenous Immunoglobulin in Neurological Diseases
    Jan D Lunemann
    Institute of Experimental Immunology, Laboratory of Neuroinflammation, University of Zurich, Winterthurerstrasse 190, Zurich, Switzerland
    Neurotherapeutics 13:34-46. 2016
    ..This review covers new developments in the immunobiology and clinical applications of IVIG in neurological diseases. ..
  84. pmc Epilepsy and behavioral changes, type 1 diabetes mellitus and a high titer of glutamic acid decarboxylase antibodies
    Esther Ganelin-Cohen
    Pediatric Neurology Unit, The Edmond and Lily Safra Children s Hospital, Chaim Sheba Medical Center, Ramat Gan, Israel
    Pediatr Diabetes 17:617-622. 2016
    ..Careful titration and characterization of GAD65Ab regarding inhibition of enzyme activity and epitope specificity may be helpful in identifying T1D patients at risk for neurological complications...
  85. pmc The astrocytic transporter SLC7A10 (Asc-1) mediates glycinergic inhibition of spinal cord motor neurons
    Jeffrey T Ehmsen
    Department of Neurology, Johns Hopkins School of Medicine, 855 N Wolfe Street, Baltimore, Maryland, 21205, USA
    Sci Rep 6:35592. 2016
    ....
  86. ncbi Gastrointestinal and Urologic Sphincter Dysfunction in Stiff Person Syndrome
    Oana M Dumitrascu
    Department of Neurology, Cedars Sinai Medical Center, Los Angeles, CA
    J Clin Neuromuscul Dis 18:92-95. 2016
    ..Stiff person syndrome is a neurologic disorder characterized by axial rigidity leading to progressive disability, with broad clinical spectrum...
  87. ncbi Mutational analysis of familial and sporadic hyperekplexia
    R Shiang
    Department of Biological Chemistry, University of California, Irvine 92717, USA
    Ann Neurol 38:85-91. 1995
    ..This disorder is caused by mutations in the alpha 1 subunit of the inhibitory glycine receptor (GLRA1)...
  88. ncbi A frameshift mutation in the mouse alpha 1 glycine receptor gene (Glra1) results in progressive neurological symptoms and juvenile death
    M S Buckwalter
    Department of Human Genetics, University of Michigan Medical School, Medical Science II, Ann Arbor 48109 0618
    Hum Mol Genet 3:2025-30. 1994
    ..Oscillator is caused by a microdeletion in the gene coding for the alpha 1 subunit of the adult glycine receptor (Glra1)...
  89. ncbi Atypical low back pain: stiff-person syndrome
    Philippe Gallien
    Service de Reeducation Fonctionnelle, CHU Pontchaillou, Rennes, France
    Joint Bone Spine 69:218-21. 2002
    ..Titers of antibody to glutamic acid decarboxylase are elevated. Diazepam is the treatment of reference. Physical therapy can substantially improve quality of life...
  90. ncbi [Successful treatment in a patient with a focal form of stiff-person syndrome using plasma exchange and intravenous immunoglobulin therapy]
    Hirokazu Shiraishi
    First Department of Internal Medicine, Nagasaki University School of Medicine
    Rinsho Shinkeigaku 42:766-70. 2002
    ..After IVIg therapy, the symptoms and signs have dramatically disappeared to date but the titer of anti-GAD antibodies in serum recurred after an initial fall. To our knowledge, this is the first case of stiff-leg syndrome in Japan...
  91. ncbi Paraneoplastic "stiff person syndrome" with metastatic adenocarcinoma and anti-Ri antibodies
    D J H McCabe
    University Department of Clinical Neurosciences, Royal Free and University College, Medical School, London, UK
    Neurology 62:1402-4. 2004
    ..Screening for an underlying malignancy and anti-Ri antibodies should be considered in patients with SPS when clinical presentation is atypical...
  92. ncbi Stiff-person syndrome following West Nile fever
    Sharon Hassin-Baer
    Department of Neurology, Chaim Sheba Medical Center, Tel Hashomer, Israel
    Arch Neurol 61:938-41. 2004
    ..Stiff-person syndrome is a rare autoimmune disorder associated with antibodies against glutamic acid decarboxylase (GAD), the key enzyme in gamma-aminobutyric acid synthesis. In most cases, a trigger cannot be identified...
  93. ncbi Molecular basis for zinc potentiation at strychnine-sensitive glycine receptors
    Paul S Miller
    Department of Pharmacology, University College London, UK
    J Biol Chem 280:37877-84. 2005
    ..Overall, we propose that Zn(2+) binds to a site on the extracellular outer face of the GlyR alpha subunit and exerts its positive allosteric effect via an interaction with the Cys loop to increase the efficacy of glycine receptor gating...
  94. ncbi Characterization of the glycinergic input to bipolar cells of the mouse retina
    Elena Ivanova
    Department Neuroanatomy, Max Planck Institute for Brain Research, Frankfurt Main, Germany
    Eur J Neurosci 23:350-64. 2006
    ..Patch-clamp recordings were performed from retinal slices of wild-type, GlyRalpha1-deficient (Glra1(spd-ot)) and GlyRalpha3-deficient (Glra3(-/-)) mice...
  95. ncbi Peculiar labeling of cultured hippocampal neurons by different sera harboring anti-glutamic acid decarboxylase autoantibodies (GAD-Ab)
    Marika Vianello
    Department of Human Anatomy and Physiology, Section of Physiology, Via Marzolo 3, 35131 Padova, Italy
    Exp Neurol 202:514-8. 2006
    ....
  96. ncbi Autoimmunity to GABAA-receptor-associated protein in stiff-person syndrome
    Raghavan Raju
    Neuromuscular Diseases Section, National Institute of Neurological Disorders and Stroke, Uniformed Services University of the Health Sciences Bethesda, MD 20892, USA
    Brain 129:3270-6. 2006
    ..Because the patients' IgG inhibits the expression of GABA(A)-receptors, the circulating antibodies could impair GABAergic pathways and play a role in the clinical symptomatology of SPS patients...
  97. ncbi GAD antibody positive paraneoplastic stiff person syndrome in a patient with renal cell carcinoma
    John C McHugh
    Department of Neurology, Mater Misericordiae University Hospital, Dublin, Ireland
    Mov Disord 22:1343-6. 2007
    ..Clinical benefit was marked following nephrectomy and intravenous immunoglobulin treatment. Renal carcinoma should be considered in patients with SPS...
  98. ncbi PET evidence of central GABAergic changes in stiff-person syndrome
    Daniela Perani
    Istituto Nazionale di Neuroscienze, Vita Salute San Raffaele University, Milan, Italy
    Mov Disord 22:1030-3. 2007
    ..This is the first in vivo PET evidence of central GABA-A receptors dysfunction in SPS, possibly concurring to the motor symptoms...
  99. doi 11C-flumazenil positron emission tomography demonstrates reduction of both global and local cerebral benzodiazepine receptor binding in a patient with Stiff Person Syndrome
    Norbert Galldiks
    Dept of Neurology, University of Cologne, Kerpener Str 62, 50924, Cologne, Germany
    J Neurol 255:1361-4. 2008
    ..These data provide first in vivo evidence for a reduced postsynaptic GABA-A receptor availability which may reflect the loss of GABAergic neuronal inhibition in SPS...
  100. doi EFNS guidelines for the use of intravenous immunoglobulin in treatment of neurological diseases: EFNS task force on the use of intravenous immunoglobulin in treatment of neurological diseases
    I Elovaara
    Department of Neurology and Rehabilitation, Tampere University Hospital and Medical School, University of Tampere, Tampere, Finland
    Eur J Neurol 15:893-908. 2008
    ....
  101. doi Stiff person syndrome associated with lower motor neuron disease and infiltration of cytotoxic T cells in the spinal cord
    Trygve Holmøy
    Department of Neurology, Oslo University Hospital Ulleval, Oslo, Norway
    Clin Neurol Neurosurg 111:708-12. 2009
    ....

Research Grants11

  1. 2nd International Pathogenesis of Rare Neuroimmunologic Disorders
    Douglas Kerr; Fiscal Year: 2006
    ..The proceedings will be[unreadable] disseminated in the medical literature. ..
  2. Autoimmune biomarker profiling in tauopathy
    Irving E Vega; Fiscal Year: 2013
    ....
  3. Pathogenesis of Rare Neuroimmunologic Disorders
    Douglas Kerr; Fiscal Year: 2004
    ..We believe this workshop will serve a critical role in advancing our understanding of disorders that are pathophysiologically linked yet, because of their rarity, are poorly understood. ..
  4. The combined effects of zinc and ethanol at the glycine receptor
    Lindsay M McCracken; Fiscal Year: 2011
    ..Homozygous Glra1(D80A) mice, which contain a mutation at a putative 1 1 glycine receptor zinc binding site, will provide an animal ..
  5. INTERNATIONAL WORKSHOP ON HUMAN CHROMOSOME 5
    JOHN WASMUTH; Fiscal Year: 1993
    ..for: spinal muscular atrophy (SMA), Treacher Collins syndrome (TCOF1), diastrophic dysplasia (DTD), hyperekplexia (STHE), autosomal dominant limb-girdle muscular atrophy (LGMD1) and late onset hereditary deafness...
  6. Pressure-Based Pharmacological Alcoholism Treatments
    DARYL DAVIES; Fiscal Year: 2005
    ..These agents can form the bases of novel prevention and treatment strategies for alcoholism and alcohol abuse. ..
  7. Sites and Mechanisms of Ethanol Action in P2X receptors
    DARYL DAVIES; Fiscal Year: 2009
    ....
  8. RETINAL CELL MODEL FOR BATTEN DISEASE
    David Pearce; Fiscal Year: 2002
    ....
  9. 11th International Congress on Neuronal Ceroid Lipofuscinosis
    David Pearce; Fiscal Year: 2007
    ..The Congress will aid interactions of researchers that will hopefully expedite a greater understanding for these diseases. [unreadable] [unreadable] [unreadable]..
  10. The role of the TM2-TM3 linker in ethanol modulation of the Glycine Receptor
    MICHELLE DUPRE; Fiscal Year: 2008
    ..Additionally, because glycine shares homology with other cys-loop ion channels, including GABAA, nicotinic acetylcholine, and serotonin-3 receptors, [unreadable] [unreadable] [unreadable]..
  11. Serum Proteomics for Biomarker Discovery in Batten Disease
    David Pearce; Fiscal Year: 2008
    ..Completion of the proposed studies would likely prove valuable in identification of markers of more complex neurodegenerative diseases [unreadable] [unreadable] [unreadable] [unreadable]..