Genomes and Genes
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
Publications246 found, 100 shown here
- Progressive encephalomyelitis with rigidity presenting as a stiff-person syndromeNeziha 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...
- Relaxation of glycine receptor and onconeural gene transcription control in NRSF deficient small cell lung cancer cell linesSabine 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...
- [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...
- Startle disease mutations reduce the agonist sensitivity of the human inhibitory glycine receptorS 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...
- Decreased agonist affinity and chloride conductance of mutant glycine receptors associated with human hereditary hyperekplexiaD 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...
- Novel GLRA1 missense mutation (P250T) in dominant hyperekplexia defines an intracellular determinant of glycine receptor channel gatingB Saul
Institut fur Biochemie, Universitat Erlangen Nurnberg, D 91054 Erlangen, Germany
J Neurosci 19:869-77. 1999Missense 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]...
- Kinetic and mutational analysis of Zn2+ modulation of recombinant human inhibitory glycine receptorsB 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...
- Cation-selective mutations in the M2 domain of the inhibitory glycine receptor channel reveal determinants of ion-charge selectivityAngelo 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...
- Binding site stoichiometry and the effects of phosphorylation on human alpha1 homomeric glycine receptorsLuc 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...
- Kinetic determinants of agonist action at the recombinant human glycine receptorTrevor 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...
- Ethanol potentiation of glycine receptors expressed in Xenopus oocytes antagonized by increased atmospheric pressureDaryl 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....
- The beta subunit determines the ligand binding properties of synaptic glycine receptorsJoanna 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...
- Mapping of disulfide bonds within the amino-terminal extracellular domain of the inhibitory glycine receptorNicolas 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...
- Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexiaSeo 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)...
- Analysis of GLRA1 in hereditary and sporadic hyperekplexia: a novel mutation in a family cosegregating for hyperekplexia and spastic paraparesisF 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 ..
- Single channel analysis of conductance and rectification in cation-selective, mutant glycine receptor channelsAndrew 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...
- Functional recovery of glycine receptors in spastic murine model of startle diseaseAnnamaria 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...
- The frameshift mutation oscillator (Glra1(spd-ot)) produces a complete loss of glycine receptor alpha1-polypeptide in mouse central nervous systemC Kling
Institut fur Biochemie, Universitat Erlangen Nurnberg, Erlangen, Germany
Neuroscience 78:411-7. 1997Mice homozygous for the recessive mutation oscillator (Glra1(spd-ot)) suffer from a complex motor disorder leading to death within three weeks after birth...
- Novel expression of a functional glycine receptor chloride channel that attenuates contraction in airway smooth musclePeter 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) ..
- Increased startle responses in mice carrying mutations of glycine receptor subunit genesM Koch
Universitat Tubingen, Germany
Neuroreport 7:806-8. 1996An 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...
- The human glycine receptor beta subunit gene (GLRB): structure, refined chromosomal localization, and population polymorphismN Milani
Institut fur Biochemie, Universitat Erlangen Nurnberg, Germany
Genomics 50:341-5. 1998The glycine receptor of the human CNS comprises ligand-binding alpha 1 and structural beta subunits encoded by the GLRA1 and GLRB genes, respectively...
- The use of intravenous immunoglobulin in the treatment of autoimmune neuromuscular diseases: evidence-based indications and safety profileMarinos 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...
- Role of IVIg in autoimmune, neuroinflammatory and neurodegenerative disorders of the central nervous system: present and future prospectsMarinos 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...
- Brain gamma-aminobutyric acid changes in stiff-person syndromeLucien 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....
- Guidelines on the use of intravenous immune globulin for neurologic conditionsTom 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...
- Genome-wide analysis of copy number changes and loss of heterozygosity in myelodysplastic syndrome with del(5q) using high-density single nucleotide polymorphism arraysLi 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...
- [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...
- [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...
- Characterization of CD4+ T cells specific for glutamic acid decarboxylase (GAD65) and proinsulin in a patient with stiff-person syndrome but without type 1 diabetesArno 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...
- Neurologic paraneoplastic syndromesE 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...
- Antibodies and neuronal autoimmune disorders of the CNSFrancesc 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....
- Effects of anti-glutamic acid decarboxylase antibodies associated with neurological diseasesMario 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...
- Intravenous immunoglobulin in patients with anti-GAD antibody-associated neurological diseases and patients with inflammatory myopathies: effects on clinicopathological features and immunoregulatory genesMarinos 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...
- Efficacy of various intravenous immunoglobulin therapy protocols in autoimmune and chronic inflammatory disordersHakan 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...
- Paraneoplastic neurological syndromesJerome 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...
- Paraneoplastic movement disordersRobin 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...
- Paraneoplastic effects on neurophthalmologic functionDebamalya 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...
- [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...
- Paraneoplastic stiff-person syndrome: passive transfer to rats by means of IgG antibodies to amphiphysinClaudia 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...
- [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...
- Stiff-person syndrome with acute recurrent peripheral vertigo: possible evidence of gamma aminobutyric acid as a neurotransmitter in the vestibular peripheryR 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...
- [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....
- Phylogeny of Annelida (Lophotrochozoa): total-evidence analysis of morphology and six genesJan 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 ..
- The stiff-person syndrome: an autoimmune disorder affecting neurotransmission of gamma-aminobutyric acidL 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...
- The stiff-person syndrome. Case reportC 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...
- [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...
- GAD65 IgG autoantibodies in stiff person syndrome: clonality, avidity and persistenceG 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)...
- Genetic and radiation hybrid mapping of the hyperekplexia region on chromosome 5qS G Ryan
Department of Pediatrics, University of Texas Health Science Center, San Antonio 78284
Am J Hum Genet 51:1334-43. 1992Hyperekplexia, 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 ..
- Stiff person syndrome: quantification, specificity, and intrathecal synthesis of GAD65 antibodiesM 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...
- Applications of transcranial magnetic stimulation in movement disordersRoberto 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...
- Central nervous system destruction mediated by glutamic acid decarboxylase-specific CD4+ T cellsAmanda 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...
- A rare saccade velocity profile in Stiff-Person Syndrome with cerebellar degenerationAri 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...
- Scleritis in a person with stiff-person syndromeMehryar 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...
- [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...
- Using immunoglobulins in muscular disease treatmentRefik 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...
- Stiff-person syndromeBeth 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...
- A case of stiff-person syndrome, type 1 diabetes, celiac disease and dermatitis herpetiformisEoin 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...
- Startle disease in an Italian family by mutation (K276E): The alpha-subunit of the inhibiting glycine receptorM Seri
Laboratorio di Genetica Molecolare, Istituto G Gaslini, Genova, Italy
Hum Mutat 9:185-7. 1997
- Antigenic differences between neurological and diabetic patients with anti-glutamic acid decarboxylase antibodiesM 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...
- The immunological basis for treatment of stiff person syndromeTrygve 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...
- Mutation of a zinc-binding residue in the glycine receptor α1 subunit changes ethanol sensitivity in vitro and alcohol consumption in vivoLindsay 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...
- Anesthetic management of a parturient with hyperekplexiaAnthony 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...
- High-resolution physical mapping of human 5q31-q33 using three methods: radiation hybrid mapping, interphase fluorescence in situ hybridization, and pulsed-field gel electrophoresisJ 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...
- High-dose intravenous immune globulin for stiff-person syndromeM 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...
- Neuropathology and binding studies in anti-amphiphysin-associated stiff-person syndromeC 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...
- Neuromuscular Manifestations of Human West Nile Virus InfectionA 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...
- Stiff-person syndrome: autoimmunity and the central nervous systemB 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...
- Treatment of surgical scars with the cryogen-cooled 595 nm pulsed dye laser starting on the day of suture removalTheresa 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...
- Molybdenum cofactor deficiency presenting as neonatal hyperekplexia: a clinical, biochemical and genetic studyA 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...
- Stiff person syndrome and motor mononeuropathy with conduction block: a singular associationS La Spada
Neurosciences Department, BR 1 District Health Centre, Neurology Unit, A Perrino Hospital, Brindisi, Italy
Clin Ter 157:237-9. 2006....
- Pathogenesis and treatment of paraneoplastic neurologic syndromeMasami 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...
- Effects of immunotherapy on motor cortex excitability in Stiff Person SyndromeSimone 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...
- Rituximab treatment of stiff-person syndrome in a patient with thymoma, diabetes mellitus and autoimmune thyroiditisJ 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...
- Transmembrane potential of GlyCl-expressing instructor cells induces a neoplastic-like conversion of melanocytes via a serotonergic pathwayDouglas 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....
- Stiff-person syndrome: a case report and review of the literatureSteve 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...
- Stiff-person syndrome (SPS) and anti-GAD-related CNS degenerations: protean additions to the autoimmune central neuropathiesFatima 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...
- Stiff person syndrome and pregnancyJennifer 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...
- A novel approach to paraneoplastic intestinal pseudo-obstructionAmbuga 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...
- [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...
- Distinct phenotypes in zebrafish models of human startle diseaseLisa 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...
- Glycine receptor antibodies in PERM and related syndromes: characteristics, clinical features and outcomesAlexander 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. ..
- Stiff-person syndrome: insights into a complex autoimmune disorderJosé 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...
- Efficacy of Intravenous Immunoglobulin in Neurological DiseasesJan 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. ..
- Epilepsy and behavioral changes, type 1 diabetes mellitus and a high titer of glutamic acid decarboxylase antibodiesEsther 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...
- The astrocytic transporter SLC7A10 (Asc-1) mediates glycinergic inhibition of spinal cord motor neuronsJeffrey T Ehmsen
Department of Neurology, Johns Hopkins School of Medicine, 855 N Wolfe Street, Baltimore, Maryland, 21205, USA
Sci Rep 6:35592. 2016....
- Gastrointestinal and Urologic Sphincter Dysfunction in Stiff Person SyndromeOana 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...
- Mutational analysis of familial and sporadic hyperekplexiaR 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)...
- A frameshift mutation in the mouse alpha 1 glycine receptor gene (Glra1) results in progressive neurological symptoms and juvenile deathM 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)...
- Atypical low back pain: stiff-person syndromePhilippe 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...
- [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...
- Paraneoplastic "stiff person syndrome" with metastatic adenocarcinoma and anti-Ri antibodiesD 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...
- Stiff-person syndrome following West Nile feverSharon 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...
- Molecular basis for zinc potentiation at strychnine-sensitive glycine receptorsPaul 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...
- Characterization of the glycinergic input to bipolar cells of the mouse retinaElena 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...
- 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....
- Autoimmunity to GABAA-receptor-associated protein in stiff-person syndromeRaghavan 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...
- GAD antibody positive paraneoplastic stiff person syndrome in a patient with renal cell carcinomaJohn 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...
- PET evidence of central GABAergic changes in stiff-person syndromeDaniela 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...
- 11C-flumazenil positron emission tomography demonstrates reduction of both global and local cerebral benzodiazepine receptor binding in a patient with Stiff Person SyndromeNorbert 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...
- 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 diseasesI Elovaara
Department of Neurology and Rehabilitation, Tampere University Hospital and Medical School, University of Tampere, Tampere, Finland
Eur J Neurol 15:893-908. 2008....
- Stiff person syndrome associated with lower motor neuron disease and infiltration of cytotoxic T cells in the spinal cordTrygve Holmøy
Department of Neurology, Oslo University Hospital Ulleval, Oslo, Norway
Clin Neurol Neurosurg 111:708-12. 2009....
- 2nd International Pathogenesis of Rare Neuroimmunologic DisordersDouglas Kerr; Fiscal Year: 2006..The proceedings will be[unreadable] disseminated in the medical literature. ..
- Autoimmune biomarker profiling in tauopathyIrving E Vega; Fiscal Year: 2013....
- Pathogenesis of Rare Neuroimmunologic DisordersDouglas 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. ..
- The combined effects of zinc and ethanol at the glycine receptorLindsay 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 ..
- INTERNATIONAL WORKSHOP ON HUMAN CHROMOSOME 5JOHN 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...
- Pressure-Based Pharmacological Alcoholism TreatmentsDARYL DAVIES; Fiscal Year: 2005..These agents can form the bases of novel prevention and treatment strategies for alcoholism and alcohol abuse. ..
- Sites and Mechanisms of Ethanol Action in P2X receptorsDARYL DAVIES; Fiscal Year: 2009....
- RETINAL CELL MODEL FOR BATTEN DISEASEDavid Pearce; Fiscal Year: 2002....
- 11th International Congress on Neuronal Ceroid LipofuscinosisDavid Pearce; Fiscal Year: 2007..The Congress will aid interactions of researchers that will hopefully expedite a greater understanding for these diseases. [unreadable] [unreadable] [unreadable]..
- The role of the TM2-TM3 linker in ethanol modulation of the Glycine ReceptorMICHELLE 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]..
- Serum Proteomics for Biomarker Discovery in Batten DiseaseDavid 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]..