Skip to main content
Key Specialties
Cardiology Diabetology Endocrinology Gastroenterology Geriatrics and Gerontology Gynecology and Obstetrics Hematology Infectious Disease Internal Medicine Nephrology Neurology Oncology Pediatrics Respiratory Medicine Rheumatology Surgery
Congress Coverage
2024 ACC Congress 2023 ESMO Congress 2023 EASD Congress 2023 ERS Congress 2023 ESC Congress
Clinical Collections
Advances in Alzheimer’s

At a glance: The ONWARDS insulin icodec trials

A round-up of the ONWARDS phase 3 clinical trials evaluating the novel weekly insulin icodec in people with diabetes.
ADVANCED SEARCH
Log in
Top
Journal of Neuroinflammation
Published in: Journal of Neuroinflammation 1/2015

Open Access 01-12-2015 | Review

‘Medusa head ataxia’: the expanding spectrum of Purkinje cell antibodies in autoimmune cerebellar ataxia. Part 1: Anti-mGluR1, anti-Homer-3, anti-Sj/ITPR1 and anti-CARP VIII

Authors: S. Jarius, B. Wildemann

Published in: Journal of Neuroinflammation | Issue 1/2015

Login to get access

Abstract

Serological testing for anti-neural autoantibodies is important in patients presenting with idiopathic cerebellar ataxia, since these autoantibodies may indicate cancer, determine treatment and predict prognosis. While some of them target nuclear antigens present in all or most CNS neurons (e.g. anti-Hu, anti-Ri), others more specifically target antigens present in the cytoplasm or plasma membrane of Purkinje cells (PC). In this series of articles, we provide a detailed review of the clinical and paraclinical features, oncological, therapeutic and prognostic implications, pathogenetic relevance, and differential laboratory diagnosis of the 12 most common PC autoantibodies (often referred to as ‘Medusa-head antibodies’ due to their characteristic somatodendritic binding pattern when tested by immunohistochemistry). To assist immunologists and neurologists in diagnosing these disorders, typical high-resolution immunohistochemical images of all 12 reactivities are presented, diagnostic pitfalls discussed and all currently available assays reviewed. Of note, most of these antibodies target antigens involved in the mGluR1/calcium pathway essential for PC function and survival. Many of the antigens also play a role in spinocerebellar ataxia. Part 1 focuses on anti-metabotropic glutamate receptor 1-, anti-Homer protein homolog 3-, anti-Sj/inositol 1,4,5-trisphosphate receptor- and anti-carbonic anhydrase-related protein VIII-associated autoimmune cerebellar ataxia (ACA); part 2 covers anti-protein kinase C gamma-, anti-glutamate receptor delta-2-, anti-Ca/RhoGTPase-activating protein 26- and anti-voltage-gated calcium channel-associated ACA; and part 3 reviews the current knowledge on anti-Tr/delta notch-like epidermal growth factor-related receptor-, anti-Nb/AP3B2-, anti-Yo/cerebellar degeneration-related protein 2- and Purkinje cell antibody 2-associated ACA, discusses differential diagnostic aspects and provides a summary and outlook.
Literature
1.
Finch EA, Augustine GJ. Local calcium signalling by inositol-1,4,5-trisphosphate in Purkinje cell dendrites. Nature. 1998;396:753–6.PubMedCrossRef
2.
Hirota J, Ando H, Hamada K, Mikoshiba K. Carbonic anhydrase-related protein is a novel binding protein for inositol 1,4,5-trisphosphate receptor type 1. Biochem J. 2003;372:435–41.PubMedCentralPubMedCrossRef
3.
4.
Hofmann T, Obukhov AG, Schaefer M, Harteneck C, Gudermann T, Schultz G. Direct activation of human TRPC6 and TRPC3 channels by diacylglycerol. Nature. 1999;397:259–63.PubMedCrossRef
5.
Hartmann J, Dragicevic E, Adelsberger H, Henning HA, Sumser M, Abramowitz J, et al. TRPC3 channels are required for synaptic transmission and motor coordination. Neuron. 2008;59:392–8.PubMedCentralPubMedCrossRef
6.
Venkatachalam K, Zheng F, Gill DL. Regulation of canonical transient receptor potential (TRPC) channel function by diacylglycerol and protein kinase C. J Biol Chem. 2003;278:29031–40.PubMedCrossRef
7.
Adachi N, Kobayashi T, Takahashi H, Kawasaki T, Shirai Y, Ueyama T, et al. Enzymological analysis of mutant protein kinase Cgamma causing spinocerebellar ataxia type 14 and dysfunction in Ca2+ homeostasis. J Biol Chem. 2008;283:19854–63.PubMedCrossRef
8.
Kato AS, Knierman MD, Siuda ER, Isaac JT, Nisenbaum ES, Bredt DS. Glutamate receptor delta2 associates with metabotropic glutamate receptor 1 (mGluR1), protein kinase Cgamma, and canonical transient receptor potential 3 and regulates mGluR1-mediated synaptic transmission in cerebellar Purkinje neurons. J Neurosci. 2012;32:15296–308.PubMedCrossRef
9.
Trebak M, St JBG, McKay RR, Birnbaumer L, Putney Jr JW. Signaling mechanism for receptor-activated canonical transient receptor potential 3 (TRPC3) channels. J Biol Chem. 2003;278:16244–52.PubMedCrossRef
10.
Glitsch MD. Activation of native TRPC3 cation channels by phospholipase D. FASEB J. 2010;24:318–25.PubMedCrossRef
11.
Doherty AJ, Coutinho V, Collingridge GL, Henley JM. Rapid internalization and surface expression of a functional, fluorescently tagged G-protein-coupled glutamate receptor. Biochem J. 1999;341(Pt 2):415–22.PubMedCentralPubMedCrossRef
12.
Mundell SJ, Matharu AL, Pula G, Roberts PJ, Kelly E. Agonist-induced internalization of the metabotropic glutamate receptor 1a is arrestin- and dynamin-dependent. J Neurochem. 2001;78:546–51.PubMedCrossRef
13.
Graus F, Lang B, Pozo-Rosich P, Saiz A, Casamitjana R, Vincent A. P/Q type calcium-channel antibodies in paraneoplastic cerebellar degeneration with lung cancer. Neurology. 2002;59:764–6.PubMedCrossRef
14.
Burk K, Wick M, Roth G, Decker P, Voltz R. Antineuronal antibodies in sporadic late-onset cerebellar ataxia. J Neurol. 2010;257:59–62.PubMedCrossRef
15.
Schubert M, Panja D, Haugen M, Bramham CR, Vedeler CA. Paraneoplastic CDR2 and CDR2L antibodies affect Purkinje cell calcium homeostasis. Acta Neuropathol. 2014;128:835–52.PubMedCentralPubMedCrossRef
16.
Kitano J, Nishida M, Itsukaichi Y, Minami I, Ogawa M, Hirano T, et al. Direct interaction and functional coupling between metabotropic glutamate receptor subtype 1 and voltage-sensitive Cav2.1 Ca2+ channel. J Biol Chem. 2003;278:25101–8.PubMedCrossRef
17.
Beqollari D, Kammermeier PJ. The interaction between mGluR1 and the calcium channel Cav(2). (1) preserves coupling in the presence of long Homer proteins. Neuropharmacology. 2013;66:302–10.PubMedCentralPubMedCrossRef
18.
Ohtani Y, Miyata M, Hashimoto K, Tabata T, Kishimoto Y, Fukaya M, et al. The synaptic targeting of mGluR1 by its carboxyl-terminal domain is crucial for cerebellar function. J Neurosci. 2014;34:2702–12.PubMedCrossRef
19.
Choi S, Lovinger DM. Metabotropic glutamate receptor modulation of voltage-gated Ca2+ channels involves multiple receptor subtypes in cortical neurons. J Neurosci. 1996;16:36–45.PubMed
20.
Stefani A, Spadoni F, Bernardi G. Group I mGluRs modulate calcium currents in rat GP: functional implications. Synapse. 1998;30:424–32.PubMedCrossRef
21.
Guergueltcheva V, Azmanov DN, Angelicheva D, Smith KR, Chamova T, Florez L, et al. Autosomal-recessive congenital cerebellar ataxia is caused by mutations in metabotropic glutamate receptor 1. Am J Hum Genet. 2012;91:553–64.PubMedCentralPubMedCrossRef
22.
Offermanns S, Hashimoto K, Watanabe M, Sun W, Kurihara H, Thompson RF, et al. Impaired motor coordination and persistent multiple climbing fiber innervation of cerebellar Purkinje cells in mice lacking Galphaq. Proc Natl Acad Sci U S A. 1997;94:14089–94.PubMedCentralPubMedCrossRef
23.
Hartmann J, Blum R, Kovalchuk Y, Adelsberger H, Kuner R, Durand GM, et al. Distinct roles of Galpha(q) and Galpha11 for Purkinje cell signaling and motor behavior. J Neurosci. 2004;24:5119–30.PubMedCrossRef
24.
Miyata M, Kim HT, Hashimoto K, Lee TK, Cho SY, Jiang H, et al. Deficient long-term synaptic depression in the rostral cerebellum correlated with impaired motor learning in phospholipase C beta4 mutant mice. Eur J Neurosci. 2001;13:1945–54.PubMedCrossRef
25.
van de Leemput J, Chandran J, Knight MA, Holtzclaw LA, Scholz S, Cookson MR, et al. Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans. PLoS Genet. 2007;3:e108.PubMedCentralPubMedCrossRef
26.
Chen DH, Brkanac Z, Verlinde CL, Tan XJ, Bylenok L, Nochlin D, et al. Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia. Am J Hum Genet. 2003;72:839–49.PubMedCentralPubMedCrossRef
27.
Skinner PJ, Vierra-Green CA, Clark HB, Zoghbi HY, Orr HT. Altered trafficking of membrane proteins in purkinje cells of SCA1 transgenic mice. Am J Pathol. 2001;159:905–13.PubMedCentralPubMedCrossRef
28.
Ikeda Y, Dick KA, Weatherspoon MR, Gincel D, Armbrust KR, Dalton JC, et al. Spectrin mutations cause spinocerebellar ataxia type 5. Nat Genet. 2006;38:184–90.PubMedCrossRef
29.
Maier A, Klopocki E, Horn D, Tzschach A, Holm T, Meyer R, et al. De novo partial deletion in GRID2 presenting with complicated spastic paraplegia. Muscle Nerve. 2014;49:289–92.PubMedCrossRef
30.
Zhuchenko O, Bailey J, Bonnen P, Ashizawa T, Stockton DW, Amos C, et al. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Nat Genet. 1997;15:62–9.PubMedCrossRef
31.
Ishikawa K, Tanaka H, Saito M, Ohkoshi N, Fujita T, Yoshizawa K, et al. Japanese families with autosomal dominant pure cerebellar ataxia map to chromosome 19p13.1-p13.2 and are strongly associated with mild CAG expansions in the spinocerebellar ataxia type 6 gene in chromosome 19p13.1. Am J Hum Genet. 1997;61:336–46.PubMedCentralPubMedCrossRef
32.
Kordasiewicz HB, Gomez CM. Molecular pathogenesis of spinocerebellar ataxia type 6. Neurotherapeutics. 2007;4:285–94.PubMedCrossRef
33.
Sillevis Smitt P, Kinoshita A, De Leeuw B, Moll W, Coesmans M, Jaarsma D, et al. Paraneoplastic cerebellar ataxia due to autoantibodies against a glutamate receptor. N Engl J Med. 2000;342:21–7.PubMedCrossRef
34.
Iorio R, Damato V, Mirabella M, Vita MG, Hulsenboom E, Plantone D, et al. Cerebellar degeneration associated with mGluR1 autoantibodies as a paraneoplastic manifestation of prostate adenocarcinoma. J Neuroimmunol. 2013;263:155–8.PubMedCrossRef
35.
Marignier R, Chenevier F, Rogemond V, Sillevis Smitt P, Renoux C, Cavillon G, et al. Metabotropic glutamate receptor type 1 autoantibody-associated cerebellitis: a primary autoimmune disease? Arch Neurol. 2010;67:627–30.PubMedCrossRef
36.
Lancaster E, Martinez-Hernandez E, Titulaer MJ, Boulos M, Weaver S, Antoine JC, et al. Antibodies to metabotropic glutamate receptor 5 in the Ophelia syndrome. Neurology. 2011;77:1698–701.PubMedCentralPubMedCrossRef
37.
Hermans E, Challiss RA. Structural, signalling and regulatory properties of the group I metabotropic glutamate receptors: prototypic family C G-protein-coupled receptors. Biochem J. 2001;359:465–84.PubMedCentralPubMedCrossRef
38.
Stephan D, Bon C, Holzwarth JA, Galvan M, Pruss RM. Human metabotropic glutamate receptor 1: mRNA distribution, chromosome localization and functional expression of two splice variants. Neuropharmacology. 1996;35:1649–60.PubMedCrossRef
39.
Makoff AJ, Phillips T, Pilling C, Emson P. Expression of a novel splice variant of human mGluR1 in the cerebellum. Neuroreport. 1997;8:2943–7.PubMedCrossRef
40.
Kammermeier PJ, Ikeda SR. Expression of RGS2 alters the coupling of metabotropic glutamate receptor 1a to M-type K+ and N-type Ca2+ channels. Neuron. 1999;22:819–29.PubMedCrossRef
41.
Ango F, Prezeau L, Muller T, Tu JC, Xiao B, Worley PF, et al. Agonist-independent activation of metabotropic glutamate receptors by the intracellular protein Homer. Nature. 2001;411:962–5.PubMedCrossRef
42.
Tu JC, Xiao B, Yuan JP, Lanahan AA, Leoffert K, Li M, et al. Homer binds a novel proline-rich motif and links group 1 metabotropic glutamate receptors with IP3 receptors. Neuron. 1998;21:717–26.PubMedCrossRef
43.
Xiao B, Tu JC, Petralia RS, Yuan JP, Doan A, Breder CD, et al. Homer regulates the association of group 1 metabotropic glutamate receptors with multivalent complexes of homer-related, synaptic proteins. Neuron. 1998;21:707–16.PubMedCrossRef
44.
Brakeman PR, Lanahan AA, O’Brien R, Roche K, Barnes CA, Huganir RL, et al. Homer: a protein that selectively binds metabotropic glutamate receptors. Nature. 1997;386:284–8.PubMedCrossRef
45.
Aiba A, Chen C, Herrup K, Rosenmund C, Stevens CF, Tonegawa S. Reduced hippocampal long-term potentiation and context-specific deficit in associative learning in mGluR1 mutant mice. Cell. 1994;79:365–75.PubMedCrossRef
46.
Aiba A, Kano M, Chen C, Stanton ME, Fox GD, Herrup K, et al. Deficient cerebellar long-term depression and impaired motor learning in mGluR1 mutant mice. Cell. 1994;79:377–88.PubMedCrossRef
47.
Anwyl R. Metabotropic glutamate receptor-dependent long-term potentiation. Neuropharmacology. 2009;56:735–40.PubMedCrossRef
48.
Kim SJ, Kim YS, Yuan JP, Petralia RS, Worley PF, Linden DJ. Activation of the TRPC1 cation channel by metabotropic glutamate receptor mGluR1. Nature. 2003;426:285–91.PubMedCrossRef
49.
Tabata T, Araishi K, Hashimoto K, Hashimotodani Y, van der Putten H, Bettler B, et al. Ca2+ activity at GABAB receptors constitutively promotes metabotropic glutamate signaling in the absence of GABA. Proc Natl Acad Sci U S A. 2004;101:16952–7.PubMedCentralPubMedCrossRef
50.
Jarius S, Steinmeyer F, Knobel A, Streitberger K, Hotter B, Horn S, et al. GABAB receptor antibodies in paraneoplastic cerebellar ataxia. J Neuroimmunol. 2013;256:94–6.PubMedCrossRef
51.
Lancaster E, Lai M, Peng X, Hughes E, Constantinescu R, Raizer J, et al. Antibodies to the GABA(B) receptor in limbic encephalitis with seizures: case series and characterisation of the antigen. Lancet Neurol. 2010;9:67–76.PubMedCentralPubMedCrossRef
52.
Boronat A, Sabater L, Saiz A, Dalmau J, Graus F. GABA(B) receptor antibodies in limbic encephalitis and anti-GAD-associated neurologic disorders. Neurology. 2011;76:795–800.PubMedCentralPubMedCrossRef
53.
Skeberdis VA, Lan J, Opitz T, Zheng X, Bennett MV, Zukin RS. mGluR1-mediated potentiation of NMDA receptors involves a rise in intracellular calcium and activation of protein kinase C. Neuropharmacology. 2001;40:856–65.PubMedCrossRef
54.
Calo L, Bruno V, Spinsanti P, Molinari G, Korkhov V, Esposito Z, et al. Interactions between ephrin-B and metabotropic glutamate 1 receptors in brain tissue and cultured neurons. J Neurosci. 2005;25:2245–54.PubMedCrossRef
55.
Dalmau J, Gleichman AJ, Hughes EG, Rossi JE, Peng X, Lai M, et al. Anti-NMDA-receptor encephalitis: case series and analysis of the effects of antibodies. Lancet Neurol. 2008;7:1091–8.PubMedCentralPubMedCrossRef
56.
Ciruela F, Escriche M, Burgueno J, Angulo E, Casado V, Soloviev MM, et al. Metabotropic glutamate 1alpha and adenosine A1 receptors assemble into functionally interacting complexes. J Biol Chem 2001;276:18345-18351.
57.
58.
Baude A, Nusser Z, Roberts JD, Mulvihill E, McIlhinney RA, Somogyi P. The metabotropic glutamate receptor (mGluR1 alpha) is concentrated at perisynaptic membrane of neuronal subpopulations as detected by immunogold reaction. Neuron. 1993;11:771–87.PubMedCrossRef
59.
Ebling FJ. The role of glutamate in the photic regulation of the suprachiasmatic nucleus. Prog Neurobiol. 1996;50:109–32.PubMedCrossRef
60.
Johnson MP, Kelly G, Chamberlain M. Changes in rat serum corticosterone after treatment with metabotropic glutamate receptor agonists or antagonists. J Neuroendocrinol. 2001;13:670–7.PubMedCrossRef
61.
Vidnyanszky Z, Gorcs TJ, Negyessy L, Borostyankio Z, Knopfel T, Hamori J. Immunocytochemical visualization of the mGluR1a metabotropic glutamate receptor at synapses of corticothalamic terminals originating from area 17 of the rat. Eur J Neurosci. 1996;8:1061–71.PubMedCrossRef
62.
Turner JP, Salt TE. Synaptic activation of the group I metabotropic glutamate receptor mGlu1 on the thalamocortical neurons of the rat dorsal lateral geniculate nucleus in vitro. Neuroscience. 2000;100:493–505.PubMedCrossRef
63.
Neugebauer V, Chen PS, Willis WD. Role of metabotropic glutamate receptor subtype mGluR1 in brief nociception and central sensitization of primate STT cells. J Neurophysiol. 1999;82:272–82.PubMed
64.
Neugebauer V. Metabotropic glutamate receptors—important modulators of nociception and pain behavior. Pain. 2002;98:1–8.PubMedCrossRef
65.
Martin LJ, Blackstone CD, Huganir RL, Price DL. Cellular localization of a metabotropic glutamate receptor in rat brain. Neuron. 1992;9:259–70.PubMedCrossRef
66.
Shigemoto R, Nakanishi S, Mizuno N. Distribution of the mRNA for a metabotropic glutamate receptor (mGluR1) in the central nervous system: an in situ hybridization study in adult and developing rat. J Comp Neurol. 1992;322:121–35.PubMedCrossRef
67.
Russo RE, Nagy F, Hounsgaard J. Modulation of plateau properties in dorsal horn neurones in a slice preparation of the turtle spinal cord. J Physiol. 1997;499(Pt 2):459–74.PubMedCentralPubMedCrossRef
68.
Berthele A, Boxall SJ, Urban A, Anneser JM, Zieglgansberger W, Urban L, et al. Distribution and developmental changes in metabotropic glutamate receptor messenger RNA expression in the rat lumbar spinal cord. Brain Res Dev Brain Res. 1999;112:39–53.PubMedCrossRef
69.
Zhong J, Gerber G, Kojic L, Randic M. Dual modulation of excitatory synaptic transmission by agonists at group I metabotropic glutamate receptors in the rat spinal dorsal horn. Brain Res. 2000;887:359–77.PubMedCrossRef
70.
Shigemoto R, Kinoshita A, Wada E, Nomura S, Ohishi H, Takada M, et al. Differential presynaptic localization of metabotropic glutamate receptor subtypes in the rat hippocampus. J Neurosci. 1997;17:7503–22.PubMed
71.
Mateos JM, Benitez R, Elezgarai I, Azkue JJ, Lazaro E, Osorio A, et al. Immunolocalization of the mGluR1b splice variant of the metabotropic glutamate receptor 1 at parallel fiber-Purkinje cell synapses in the rat cerebellar cortex. J Neurochem. 2000;74:1301–9.PubMedCrossRef
72.
Grandes P, Mateos JM, Ruegg D, Kuhn R, Knopfel T. Differential cellular localization of three splice variants of the mGluR1 metabotropic glutamate receptor in rat cerebellum. Neuroreport. 1994;5:2249–52.PubMedCrossRef
73.
Ango F, Albani-Torregrossa S, Joly C, Robbe D, Michel JM, Pin JP, et al. A simple method to transfer plasmid DNA into neuronal primary cultures: functional expression of the mGlu5 receptor in cerebellar granule cells. Neuropharmacology. 1999;38:793–803.PubMedCrossRef
74.
Jarius S, Wandinger KP, Horn S, Heuer H, Wildemann B. A new Purkinje cell antibody (anti-Ca) associated with subacute cerebellar ataxia: immunological characterization. J Neuroinflammation. 2010;7:21.PubMedCentralPubMedCrossRef
75.
Coesmans M, Smitt PA, Linden DJ, Shigemoto R, Hirano T, Yamakawa Y, et al. Mechanisms underlying cerebellar motor deficits due to mGluR1-autoantibodies. Ann Neurol. 2003;53:325–36.PubMedCrossRef
76.
Copani A, Bruno V, Battaglia G, Leanza G, Pellitteri R, Russo A, et al. Activation of metabotropic glutamate receptors protects cultured neurons against apoptosis induced by beta-amyloid peptide. Mol Pharmacol. 1995;47:890–7.PubMed
77.
Copani A, Bruno VM, Barresi V, Battaglia G, Condorelli DF, Nicoletti F. Activation of metabotropic glutamate receptors prevents neuronal apoptosis in culture. J Neurochem. 1995;64:101–8.PubMedCrossRef
78.
Maiese K, Vincent A, Lin SH, Shaw T: Group I and group III metabotropic glutamate receptor subtypes provide enhanced neuroprotection. J Neurosci Res 2000, 62:257–272.PubMedCrossRef
79.
Sachs AJ, Schwendinger JK, Yang AW, Haider NB, Nystuen AM. The mouse mutants recoil wobbler and nmf373 represent a series of Grm1 mutations. Mamm Genome. 2007;18:749–56.PubMedCrossRef
80.
Conquet F, Bashir ZI, Davies CH, Daniel H, Ferraguti F, Bordi F, et al. Motor deficit and impairment of synaptic plasticity in mice lacking mGluR1. Nature. 1994;372:237–43.PubMedCrossRef
81.
Kano M, Hashimoto K, Kurihara H, Watanabe M, Inoue Y, Aiba A, et al. Persistent multiple climbing fiber innervation of cerebellar Purkinje cells in mice lacking mGluR1. Neuron. 1997;18:71–9.PubMedCrossRef
82.
Levenes C, Daniel H, Jaillard D, Conquet F, Crepel F. Incomplete regression of multiple climbing fibre innervation of cerebellar Purkinje cells in mGLuR1 mutant mice. Neuroreport. 1997;8:571–4.PubMedCrossRef
83.
Gil-Sanz C, Delgado-Garcia JM, Fairen A, Gruart A. Involvement of the mGluR1 receptor in hippocampal synaptic plasticity and associative learning in behaving mice. Cereb Cortex. 2008;18:1653–63.PubMedCrossRef
84.
Ichise T, Kano M, Hashimoto K, Yanagihara D, Nakao K, Shigemoto R, et al. mGluR1 in cerebellar Purkinje cells essential for long-term depression, synapse elimination, and motor coordination. Science. 2000;288:1832–5.PubMedCrossRef
85.
Zuliani L, Sabater L, Saiz A, Baiges JJ, Giometto B, Graus F. Homer 3 autoimmunity in subacute idiopathic cerebellar ataxia. Neurology. 2007;68:239–40.PubMedCrossRef
86.
87.
Kato A, Ozawa F, Saitoh Y, Fukazawa Y, Sugiyama H, Inokuchi K. Novel members of the Vesl/Homer family of PDZ proteins that bind metabotropic glutamate receptors. J Biol Chem. 1998;273:23969–75.PubMedCrossRef
88.
Sun J, Tadokoro S, Imanaka T, Murakami SD, Nakamura M, Kashiwada K, et al. Isolation of PSD-Zip45, a novel Homer/vesl family protein containing leucine zipper motifs, from rat brain. FEBS Lett. 1998;437:304–8.PubMedCrossRef
89.
90.
Kato A, Ozawa F, Saitoh Y, Hirai K, Inokuchi K. vesl, a gene encoding VASP/Ena family related protein, is upregulated during seizure, long-term potentiation and synaptogenesis. FEBS Lett. 1997;412:183–9.PubMedCrossRef
91.
92.
Kammermeier PJ, Xiao B, Tu JC, Worley PF, Ikeda SR. Homer proteins regulate coupling of group I metabotropic glutamate receptors to N-type calcium and M-type potassium channels. J Neurosci. 2000;20:7238–45.PubMed
93.
Prezeau L, Gomeza J, Ahern S, Mary S, Galvez T, Bockaert J, et al. Changes in the carboxyl-terminal domain of metabotropic glutamate receptor 1 by alternative splicing generate receptors with differing agonist-independent activity. Mol Pharmacol. 1996;49:422–9.PubMed
94.
Roche KW, Tu JC, Petralia RS, Xiao B, Wenthold RJ, Worley PF. Homer 1b regulates the trafficking of group I metabotropic glutamate receptors. J Biol Chem. 1999;274:25953–7.PubMedCrossRef
95.
Mizutani A, Kuroda Y, Futatsugi A, Furuichi T, Mikoshiba K. Phosphorylation of Homer3 by calcium/calmodulin-dependent kinase II regulates a coupling state of its target molecules in Purkinje cells. J Neurosci. 2008;28:5369–82.PubMedCrossRef
96.
Hayashi MK, Tang C, Verpelli C, Narayanan R, Stearns MH, Xu RM, et al. The postsynaptic density proteins Homer and Shank form a polymeric network structure. Cell. 2009;137:159–71.PubMedCentralPubMedCrossRef
97.
Kammermeier PJ, Worley PF. Homer 1a uncouples metabotropic glutamate receptor 5 from postsynaptic effectors. Proc Natl Acad Sci U S A. 2007;104:6055–60.PubMedCentralPubMedCrossRef
98.
Tu JC, Xiao B, Naisbitt S, Yuan JP, Petralia RS, Brakeman P, et al. Coupling of mGluR/Homer and PSD-95 complexes by the Shank family of postsynaptic density proteins. Neuron. 1999;23:583–92.PubMedCrossRef
99.
Sheng M. The postsynaptic NMDA-receptor—PSD-95 signaling complex in excitatory synapses of the brain. J Cell Sci. 2001;114:1251.PubMed
100.
Jarius S, Scharf M, Begemann N, Stocker W, Probst C, Serysheva II, et al. Antibodies to the inositol 1,4,5-trisphosphate receptor type 1 (ITPR1) in cerebellar ataxia. J Neuroinflammation. 2014;11:206.PubMedCentralPubMedCrossRef
101.
Uhlen M, Fagerberg L, Hallstrom BM, Lindskog C, Oksvold P, Mardinoglu A, et al. Proteomics. Tissue-based map of the human proteome. Science. 2015;347:1260419.PubMedCrossRef
102.
Otsu H, Yamamoto A, Maeda N, Mikoshiba K, Tashiro Y. Immunogold localization of inositol 1, 4, 5-trisphosphate (InsP3) receptor in mouse cerebellar Purkinje cells using three monoclonal antibodies. Cell Struct Funct. 1990;15:163–73.PubMedCrossRef
103.
Satoh T, Ross CA, Villa A, Supattapone S, Pozzan T, Snyder SH, et al. The inositol 1,4,5,-trisphosphate receptor in cerebellar Purkinje cells: quantitative immunogold labeling reveals concentration in an ER subcompartment. J Cell Biol. 1990;111:615–24.PubMedCrossRef
104.
Furuichi T, Simon-Chazottes D, Fujino I, Yamada N, Hasegawa M, Miyawaki A, et al. Widespread expression of inositol 1,4,5-trisphosphate receptor type 1 gene (Insp3r1) in the mouse central nervous system. Receptors Channels. 1993;1:11–24.PubMed
105.
Nucifora Jr FC, Li SH, Danoff S, Ullrich A, Ross CA. Molecular cloning of a cDNA for the human inositol 1,4,5-trisphosphate receptor type 1, and the identification of a third alternatively spliced variant. Brain Res Mol Brain Res. 1995;32:291–6.PubMedCrossRef
106.
Vanderheyden V, Devogelaere B, Missiaen L, De Smedt H, Bultynck G, Parys JB. Regulation of inositol 1,4,5-trisphosphate-induced Ca2+ release by reversible phosphorylation and dephosphorylation. Biochim Biophys Acta. 2009;1793:959–70.PubMedCentralPubMedCrossRef
107.
Orrenius S, Zhivotovsky B, Nicotera P. Regulation of cell death: the calcium-apoptosis link. Nat Rev Mol Cell Biol. 2003;4:552–65.PubMedCrossRef
108.
Boehning D, Patterson RL, Sedaghat L, Glebova NO, Kurosaki T, Snyder SH. Cytochrome c binds to inositol (1,4,5) trisphosphate receptors, amplifying calcium-dependent apoptosis. Nat Cell Biol. 2003;5:1051–61.PubMedCrossRef
109.
Boehning D, Patterson RL, Snyder SH. Apoptosis and calcium: new roles for cytochrome c and inositol 1,4,5-trisphosphate. Cell Cycle. 2004;3:252–4.PubMedCrossRef
110.
Akimzhanov AM, Barral JM, Boehning D. Caspase 3 cleavage of the inositol 1,4,5-trisphosphate receptor does not contribute to apoptotic calcium release. Cell Calcium. 2013;53:152–8.PubMedCentralPubMedCrossRef
111.
112.
Boehning D, van Rossum DB, Patterson RL, Snyder SH. A peptide inhibitor of cytochrome c/inositol 1,4,5-trisphosphate receptor binding blocks intrinsic and extrinsic cell death pathways. Proc Natl Acad Sci U S A. 2005;102:1466–71.PubMedCentralPubMedCrossRef
113.
Szlufcik K, Bultynck G, Callewaert G, Missiaen L, Parys JB, De Smedt H. The suppressor domain of inositol 1,4,5-trisphosphate receptor plays an essential role in the protection against apoptosis. Cell Calcium. 2006;39:325–36.PubMedCrossRef
114.
Matsumoto M, Nakagawa T, Inoue T, Nagata E, Tanaka K, Takano H, et al. Ataxia and epileptic seizures in mice lacking type 1 inositol 1,4,5-trisphosphate receptor. Nature. 1996;379:168–71.PubMedCrossRef
115.
Peng YW, Sharp AH, Snyder SH, Yau KW. Localization of the inositol 1,4,5-trisphosphate receptor in synaptic terminals in the vertebrate retina. Neuron. 1991;6:525–31.PubMedCrossRef
116.
Fadool DA, Ache BW. Plasma membrane inositol 1,4,5-trisphosphate-activated channels mediate signal transduction in lobster olfactory receptor neurons. Neuron. 1992;9:907–18.PubMedCentralPubMedCrossRef
117.
Restrepo D, Teeter JH, Honda E, Boyle AG, Marecek JF, Prestwich GD, et al. Evidence for an InsP3-gated channel protein in isolated rat olfactory cilia. Am J Physiol. 1992;263:C667–73.PubMed
118.
Cunningham AM, Ryugo DK, Sharp AH, Reed RR, Snyder SH, Ronnett GV. Neuronal inositol 1,4,5-trisphosphate receptor localized to the plasma membrane of olfactory cilia. Neuroscience. 1993;57:339–52.PubMedCrossRef
119.
Jarius S, Stich O, Speck J, Rasiah C, Wildemann B, Meinck HM, et al. Qualitative and quantitative evidence of anti-glutamic acid decarboxylase-specific intrathecal antibody synthesis in patients with stiff person syndrome. J Neuroimmunol. 2010;229:219–24.PubMedCrossRef
120.
Stich O, Jarius S, Kleer B, Rasiah C, Voltz R, Rauer S. Specific antibody index in cerebrospinal fluid from patients with central and peripheral paraneoplastic neurological syndromes. J Neuroimmunol. 2007;183:220–4.PubMedCrossRef
121.
Jarius S, Stich O, Rasiah C, Voltz R, Rauer S. Qualitative evidence of Ri specific IgG-synthesis in the cerebrospinal fluid from patients with paraneoplastic neurological syndromes. J Neurol Sci. 2008;268:65–8.PubMedCrossRef
122.
Stich O, Graus F, Rasiah C, Rauer S. Qualitative evidence of anti-Yo-specific intrathecal antibody synthesis in patients with paraneoplastic cerebellar degeneration. J Neuroimmunol. 2003;141:165–9.PubMedCrossRef
123.
Kumar MA, Jain A, Dechant VE, Saito T, Rafael T, Aizawa H, et al. Anti-N-methyl-D-aspartate receptor encephalitis during pregnancy. Arch Neurol. 2010;67:884–7.PubMedCrossRef
124.
Tanimura A, Tojyo Y, Turner RJ. Evidence that type I, II, and III inositol 1,4,5-trisphosphate receptors can occur as integral plasma membrane proteins. J Biol Chem. 2000;275:27488–93.PubMed
125.
Lischka FW, Zviman MM, Teeter JH, Restrepo D. Characterization of inositol-1,4,5-trisphosphate-gated channels in the plasma membrane of rat olfactory neurons. Biophys J. 1999;76:1410–22.PubMedCentralPubMedCrossRef
126.
Vermassen E, Parys JB, Mauger JP. Subcellular distribution of the inositol 1,4,5-trisphosphate receptors: functional relevance and molecular determinants. Biol Cell. 2004;96:3–17.PubMedCrossRef
127.
128.
Dellis O, Dedos SG, Tovey SC, Taufiq Ur R, Dubel SJ, Taylor CW. Ca2+ entry through plasma membrane IP3 receptors. Science. 2006;313:229–33.PubMedCrossRef
129.
Iwaki A, Kawano Y, Miura S, Shibata H, Matsuse D, Li W, et al. Heterozygous deletion of ITPR1, but not SUMF1, in spinocerebellar ataxia type 16. J Med Genet. 2008;45:32–5.PubMedCrossRef
130.
Synofzik M, Beetz C, Bauer C, Bonin M, Sanchez-Ferrero E, Schmitz-Hubsch T, et al. Spinocerebellar ataxia type 15: diagnostic assessment, frequency, and phenotypic features. J Med Genet. 2011;48:407–12.PubMedCrossRef
131.
Marelli C, van de Leemput J, Johnson JO, Tison F, Thauvin-Robinet C, Picard F, et al. SCA15 due to large ITPR1 deletions in a cohort of 333 white families with dominant ataxia. Arch Neurol. 2011;68:637–43.PubMedCentralPubMedCrossRef
132.
Hara K, Shiga A, Nozaki H, Mitsui J, Takahashi Y, Ishiguro H, et al. Total deletion and a missense mutation of ITPR1 in Japanese SCA15 families. Neurology. 2008;71:547–51.PubMedCrossRef
133.
Huang L, Chardon JW, Carter MT, Friend KL, Dudding TE, Schwartzentruber J, et al. Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia. Orphanet J Rare Dis. 2012;7:67.PubMedCentralPubMedCrossRef
134.
Bataller L, Sabater L, Saiz A, Serra C, Claramonte B, Graus F. Carbonic anhydrase-related protein VIII: autoantigen in paraneoplastic cerebellar degeneration. Ann Neurol. 2004;56:575–9.PubMedCrossRef
135.
Hoftberger R, Sabater L, Velasco F, Ciordia R, Dalmau J, Graus F. Carbonic anhydrase-related protein VIII antibodies and paraneoplastic cerebellar degeneration. Neuropathol Appl Neurobiol. 2014;40:650–3.PubMedCentralPubMedCrossRef
136.
137.
Kato K. Sequence of a novel carbonic anhydrase-related polypeptide and its exclusive presence in Purkinje cells. FEBS Lett. 1990;271:137–40.PubMedCrossRef
138.
Skaggs LA, Bergenhem NC, Venta PJ, Tashian RE. The deduced amino acid sequence of human carbonic anhydrase-related protein (CARP) is 98 % identical to the mouse homologue. Gene. 1993;126:291–2.PubMedCrossRef
139.
Nogradi A, Jonsson N, Walker R, Caddy K, Carter N, Kelly C. Carbonic anhydrase II and carbonic anhydrase-related protein in the cerebellar cortex of normal and lurcher mice. Brain Res Dev Brain Res. 1997;98:91–101.PubMedCrossRef
140.
Lakkis MM, O’Shea KS, Tashian RE. Differential expression of the carbonic anhydrase genes for CA VII (Car7) and CA-RP VIII (Car8) in mouse brain. J Histochem Cytochem. 1997;45:657–62.PubMedCrossRef
141.
Taniuchi K, Nishimori I, Takeuchi T, Fujikawa-Adachi K, Ohtsuki Y, Onishi S. Developmental expression of carbonic anhydrase-related proteins VIII, X, and XI in the human brain. Neuroscience. 2002;112:93–9.PubMedCrossRef
142.
Turkmen S, Guo G, Garshasbi M, Hoffmann K, Alshalah AJ, Mischung C, et al. CA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gait. PLoS Genet. 2009;5:e1000487.PubMedCentralPubMedCrossRef
143.
Najmabadi H, Hu H, Garshasbi M, Zemojtel T, Abedini SS, Chen W, et al. Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature. 2011;478:57–63.PubMedCrossRef
144.
Jiao Y, Yan J, Zhao Y, Donahue LR, Beamer WG, Li X, et al. Carbonic anhydrase-related protein VIII deficiency is associated with a distinctive lifelong gait disorder in waddles mice. Genetics. 2005;171:1239–46.PubMedCentralPubMedCrossRef
145.
Hirasawa M, Xu X, Trask RB, Maddatu TP, Johnson BA, Naggert JK, et al. Carbonic anhydrase related protein 8 mutation results in aberrant synaptic morphology and excitatory synaptic function in the cerebellum. Mol Cell Neurosci. 2007;35:161–70.PubMedCentralPubMedCrossRef
146.
Kelly C, Nogradi A, Walker R, Caddy K, Peters J, Carter N. Lurching, reeling, waddling and staggering in mice—is carbonic anhydrase (CA) VIII a candidate gene? Biochem Soc Trans. 1994;22:359S.PubMedCrossRef
147.
Sabater L, Bataller L, Carpentier AF, Aguirre-Cruz ML, Saiz A, Benyahia B, et al. Protein kinase Cgamma autoimmunity in paraneoplastic cerebellar degeneration and non-small-cell lung cancer. J Neurol Neurosurg Psychiatry. 2006;77:1359–62.PubMedCentralPubMedCrossRef
148.
Hoftberger R, Kovacs GG, Sabater L, Nagy P, Racz G, Miquel R, et al. Protein kinase Cgamma antibodies and paraneoplastic cerebellar degeneration. J Neuroimmunol. 2013;256:91–3.PubMedCrossRef
149.
Sugiyama N, Hamano S, Mochizuki M, Tanaka M, Takahashi Y. A case of chronic cerebellitis with anti-glutamate receptor delta 2 antibody. No To Hattatsu. 2004;36:60–3.PubMed
150.
Shimokaze T, Kato M, Yoshimura Y, Takahashi Y, Hayasaka K. A case of acute cerebellitis accompanied by autoantibodies against glutamate receptor delta2. Brain Dev. 2007;29:224–6.PubMedCrossRef
151.
Shiihara T, Kato M, Konno A, Takahashi Y, Hayasaka K. Acute cerebellar ataxia and consecutive cerebellitis produced by glutamate receptor delta2 autoantibody. Brain Dev. 2007;29:254–6.PubMedCrossRef
152.
Jarius S, Martinez-Garcia P, Hernandez AL, Brase JC, Borowski K, Regula JU, et al. Two new cases of anti-Ca (anti-ARHGAP26/GRAF) autoantibody-associated cerebellar ataxia. J Neuroinflammation. 2013;10:7.PubMedCentralPubMedCrossRef
153.
Doss S, Numann A, Ziegler A, Siebert E, Borowski K, Stocker W, et al. Anti-Ca/anti-ARHGAP26 antibodies associated with cerebellar atrophy and cognitive decline. J Neuroimmunol. 2014;267:102–4.PubMedCrossRef
154.
Vernino S, Lennon VA. New Purkinje cell antibody (PCA-2): marker of lung cancer-related neurological autoimmunity. Ann Neurol. 2000;47:297–305.PubMedCrossRef
155.
Lennon VA, Kryzer TJ, Griesmann GE, O’Suilleabhain PE, Windebank AJ, Woppmann A, et al. Calcium-channel antibodies in the Lambert-Eaton syndrome and other paraneoplastic syndromes. N Engl J Med. 1995;332:1467–74.PubMedCrossRef
156.
Mason WP, Graus F, Lang B, Honnorat J, Delattre JY, Valldeoriola F, et al. Small-cell lung cancer, paraneoplastic cerebellar degeneration and the Lambert-Eaton myasthenic syndrome. Brain. 1997;120(Pt 8):1279–300.PubMedCrossRef
157.
Motomura M, Lang B, Johnston I, Palace J, Vincent A, Newsom-Davis J. ncidence of serum anti-P/O-type and anti-N-type calcium channel autoantibodies in the Lambert-Eaton myasthenic syndrome. J Neurol Sci. 1997;147:35–42.
158.
Greenlee JE, Brashear HR. Antibodies to cerebellar Purkinje cells in patients with paraneoplastic cerebellar degeneration and ovarian carcinoma. Ann Neurol. 1983;14:609–13.PubMedCrossRef
159.
Peterson K, Rosenblum MK, Kotanides H, Posner JB. Paraneoplastic cerebellar degeneration. I. A clinical analysis of 55 anti-Yo antibody-positive patients. Neurology. 1992;42:1931–7.PubMedCrossRef
160.
Greenlee JE, Clawson SA, Hill KE, Wood BL, Tsunoda I, Carlson NG. Purkinje cell death after uptake of anti-Yo antibodies in cerebellar slice cultures. J Neuropathol Exp Neurol. 2010;69:997–1007.PubMedCentralPubMedCrossRef
161.
Darnell RB, Posner JB. Paraneoplastic syndromes. Oxford, New York: Oxford University Press; 2011.
162.
Eichler TW, Totland C, Haugen M, Qvale TH, Mazengia K, Storstein A, et al. CDR2L Antibodies: a new player in paraneoplastic cerebellar degeneration. PLoS One. 2013;8:e66002.PubMedCentralPubMedCrossRef
163.
Darnell RB, Furneaux HM, Posner JB. Characterization of antigens bound by CSF and serum of a patient with cerebellar degeneration: co-expression in Purkinje cells and tumor lines of neuroectodermal origin. Neurology. 1989;39(Suppl):260.
164.
Darnell RB, Furneaux HM, Posner JB. Antiserum from a patient with cerebellar degeneration identifies a novel protein in Purkinje cells, cortical neurons, and neuroectodermal tumors. J Neurosci. 1991;11:1224–30.PubMed
165.
Trotter JL, Hendin BA, Osterland CK. Cerebellar degeneration with Hodgkin disease. An immunological study. Arch Neurol. 1976;33:660–1.PubMedCrossRef
166.
Graus F, Dalmau J, Valldeoriola F, Ferrer I, Rene R, Marin C, et al. Immunological characterization of a neuronal antibody (anti-Tr) associated with paraneoplastic cerebellar degeneration and Hodgkin’s disease. J Neuroimmunol. 1997;74:55–61.PubMedCrossRef
167.
Bernal F, Shams’ili S, Rojas I, Sanchez-Valle R, Saiz A, Dalmau J, et al. Anti-Tr antibodies as markers of paraneoplastic cerebellar degeneration and Hodgkin’s disease. Neurology. 2003;60:230–4.PubMedCrossRef
168.
Probst C, Komorowski L, de Graaff E, van Coevorden-Hameete M, Rogemond V, Honnorat J, et al. Standardized test for anti-Tr/DNER in patients with paraneoplastic cerebellar degeneration. Neurol Neuroimmunol Neuroinflamm. 2015;2:e68.PubMedCentralPubMedCrossRef
169.
de Graaff E, Maat P, Hulsenboom E, van den Berg R, van den Bent M, Demmers J, et al. Identification of delta/notch-like epidermal growth factor-related receptor as the Tr antigen in paraneoplastic cerebellar degeneration. Ann Neurol. 2012;71:815–24.PubMedCrossRef
170.
Pittock SJ, Lucchinetti CF, Parisi JE, Benarroch EE, Mokri B, Stephan CL, et al. Amphiphysin autoimmunity: paraneoplastic accompaniments. Ann Neurol. 2005;58:96–107.PubMedCrossRef
171.
Balint B, Jarius S, Nagel S, Haberkorn U, Probst C, Blocker IM, et al. Progressive encephalomyelitis with rigidity and myoclonus: a new variant with DPPX antibodies. Neurology. 2014;82:1521–8.PubMedCrossRef
172.
Boronat A, Gelfand JM, Gresa-Arribas N, Jeong H-Y, Walsh M, Roberts K, et al. Encephalitis and antibodies to DPPX, a subunit of Kv4.2 potassium channels. Ann Neurol. 2012; in press (doi:10.​1002/​ana.​23756).
173.
Stoeck K, Carstens P, Jarius S, Raddatz D, Stöcker W, Wildemann B, et al. Prednisolone and azathioprine are effective in DPPX antibody–positive autoimmune encephalitis. Neurol Neuroimmunol Neuroinflamm. 2015;2:e86.PubMedCentralPubMedCrossRef
174.
Tobin WO, Lennon VA, Komorowski L, Probst C, Clardy SL, Aksamit AJ, et al. DPPX potassium channel antibody: frequency, clinical accompaniments, and outcomes in 20 patients. Neurology. 2014;83:1797–803.PubMedPubMedCentralCrossRef
175.
Becker EB, Zuliani L, Pettingill R, Lang B, Waters P, Dulneva A, et al. Contactin-associated protein-2 antibodies in non-paraneoplastic cerebellar ataxia. J Neurol Neurosurg Psychiatry. 2012;83:437–40.PubMedCentralPubMedCrossRef
176.
Balint B, Regula JU, Jarius S, Wildemann B. Caspr2 antibodies in limbic encephalitis with cerebellar ataxia, dyskinesias and myoclonus. J Neurol Sci. 2013;327:73–4.PubMedCrossRef
177.
Steriade C, Day GS, Lee L, Murray BJ, Fritzler MJ, Keith J. LGI1 autoantibodies associated with cerebellar degeneration. Neuropathol Appl Neurobiol. 2014;40:645–9.PubMedCrossRef
178.
Honnorat J, Saiz A, Giometto B, Vincent A, Brieva L, de Andres C, et al. Cerebellar ataxia with anti-glutamic acid decarboxylase antibodies: study of 14 patients. Arch Neurol. 2001;58:225–30.PubMedCrossRef
179.
Piccolo G, Tavazzi E, Cavallaro T, Romani A, Scelsi R, Martino G. Clinico-pathological findings in a patient with progressive cerebellar ataxia, autoimmune polyendocrine syndrome, hepatocellular carcinoma and anti-GAD autoantibodies. J Neurol Sci. 2010;290:148–9.PubMedCrossRef
180.
Kono S, Miyajima H, Sugimoto M, Suzuki Y, Takahashi Y, Hishida A. Stiff-person syndrome associated with cerebellar ataxia and high glutamic acid decarboxylase antibody titer. Intern Med. 2001;40:968–71.PubMedCrossRef
181.
Saiz A, Blanco Y, Sabater L, Gonzalez F, Bataller L, Casamitjana R, et al. Spectrum of neurological syndromes associated with glutamic acid decarboxylase antibodies: diagnostic clues for this association. Brain. 2008;131:2553–63.PubMedCrossRef
182.
Malik S, Furlan AJ, Sweeney PJ, Kosmorsky GS, Wong M. Optic neuropathy: a rare paraneoplastic syndrome. J Clin Neuroophthalmol. 1992;12:137–41.PubMed
183.
Antoine JC, Honnorat J, Vocanson C, Koenig F, Aguera M, Belin MF, et al. Posterior uveitis, paraneoplastic encephalomyelitis and auto-antibodies reacting with developmental protein of brain and retina. J Neurol Sci. 1993;117:215–23.PubMedCrossRef
184.
Yu Z, Kryzer TJ, Griesmann GE, Kim K, Benarroch EE, Lennon VA. CRMP-5 neuronal autoantibody: marker of lung cancer and thymoma-related autoimmunity. Ann Neurol. 2001;49:146–54.PubMedCrossRef
185.
Mader S, Gredler V, Schanda K, Rostasy K, Dujmovic I, Pfaller K, et al. Complement activating antibodies to myelin oligodendrocyte glycoprotein in neuromyelitis optica and related disorders. J Neuroinflammation. 2011;8:184.PubMedCentralPubMedCrossRef
186.
Reindl M, Di Pauli F, Rostasy K, Berger T. The spectrum of MOG autoantibody-associated demyelinating diseases. Nat Rev Neurol. 2013;9:455–61.PubMedCrossRef
187.
Jarius S, Wildemann B. AQP4 antibodies in neuromyelitis optica: diagnostic and pathogenetic relevance. Nat Rev Neurol. 2010;6:383–92.PubMedCrossRef
188.
Jarius S, Ruprecht K, Wildemann B, Kuempfel T, Ringelstein M, Geis C, et al. Contrasting disease patterns in seropositive and seronegative neuromyelitis optica: A multicentre study of 175 patients. J Neuroinflammation. 2012;9:14.PubMedCentralPubMedCrossRef
189.
Lucchinetti CF, Kimmel DW, Lennon VA. Paraneoplastic and oncologic profiles of patients seropositive for type 1 antineuronal nuclear autoantibodies. Neurology. 1998;50:652–7.PubMedCrossRef
190.
Graus F, Keime-Guibert F, Rene R, Benyahia B, Ribalta T, Ascaso C, et al. Anti-Hu-associated paraneoplastic encephalomyelitis: analysis of 200 patients. Brain. 2001;124:1138–48.PubMedCrossRef
191.
Dalmau J, Graus F, Rosenblum MK, Posner JB. Anti-Hu-associated paraneoplastic encephalomyelitis/sensory neuronopathy. A clinical study of 71 patients. Medicine (Baltimore). 1992;71:59–72.CrossRef
192.
Budde-Steffen C, Anderson NE, Rosenblum MK, Graus F, Ford D, Synek BJ, et al. An antineuronal autoantibody in paraneoplastic opsoclonus. Ann Neurol. 1988;23:528–31.PubMedCrossRef
193.
Pittock SJ, Lucchinetti CF, Lennon VA. Anti-neuronal nuclear autoantibody type 2: paraneoplastic accompaniments. Ann Neurol. 2003;53:580–7.PubMedCrossRef
194.
Chan KH, Vernino S, Lennon VA. ANNA-3 anti-neuronal nuclear antibody: marker of lung cancer-related autoimmunity. Ann Neurol. 2001;50:301–11.PubMedCrossRef
195.
Bataller L, Wade DF, Fuller GN, Rosenfeld MR, Dalmau J. Cerebellar degeneration and autoimmunity to zinc-finger proteins of the cerebellum. Neurology. 2002;59:1985–7.PubMedCrossRef
196.
Bataller L, Wade DF, Graus F, Stacey HD, Rosenfeld MR, Dalmau J. Antibodies to Zic4 in paraneoplastic neurologic disorders and small-cell lung cancer. Neurology. 2004;62:778–82.PubMedCentralPubMedCrossRef
197.
Sabater L, Bataller L, Suarez-Calvet M, Saiz A, Dalmau J, Graus F. ZIC antibodies in paraneoplastic cerebellar degeneration and small cell lung cancer. J Neuroimmunol. 2008;201–202:163–5.PubMedCentralPubMedCrossRef
198.
Graus F, Vincent A, Pozo-Rosich P, Sabater L, Saiz A, Lang B, et al. Anti-glial nuclear antibody: marker of lung cancer-related paraneoplastic neurological syndromes. J Neuroimmunol. 2005;165:166–71.PubMedCentralPubMedCrossRef
199.
Titulaer MJ, Klooster R, Potman M, Sabater L, Graus F, Hegeman IM, et al. SOX antibodies in small-cell lung cancer and Lambert-Eaton myasthenic syndrome: frequency and relation with survival. J Clin Oncol. 2009;27:4260–7.PubMedCrossRef
200.
Hoffmann LA, Jarius S, Pellkofer HL, Schueller M, Krumbholz M, Koenig F, et al. Anti-Ma and anti-Ta associated paraneoplastic neurological syndromes: 22 newly diagnosed patients and review of previous cases. J Neurol Neurosurg Psychiatry. 2008;79:767–73.PubMedCrossRef
201.
Dalmau J, Graus F, Villarejo A, Posner JB, Blumenthal D, Thiessen B, et al. Clinical analysis of anti-Ma2-associated encephalitis. Brain. 2004;127:1831–44.PubMedCrossRef
202.
Fritzler MJ, Zhang M, Stinton LM, Rattner JB. Spectrum of centrosome autoantibodies in childhood varicella and post-varicella acute cerebellar ataxia. BMC Pediatr. 2003;3:11.PubMedCentralPubMedCrossRef
203.
Cimolai N, Mah D, Roland E. Anticentriolar autoantibodies in children with central nervous system manifestations of Mycoplasma pneumoniae infection. J Neurol Neurosurg Psychiatry. 1994;57:638–9.PubMedCentralPubMedCrossRef
204.
Hadjivassiliou M, Aeschlimann P, Strigun A, Sanders DS, Woodroofe N, Aeschlimann D. Autoantibodies in gluten ataxia recognize a novel neuronal transglutaminase. Ann Neurol. 2008;64:332–43.PubMedCrossRef
205.
206.
Uchibori A, Sakuta M, Kusunoki S, Chiba A. Autoantibodies in postinfectious acute cerebellar ataxia. Neurology. 2005;65:1114–6.PubMedCrossRef
207.
Storstein A, Knudsen A, Vedeler CA. Proteasome antibodies in paraneoplastic cerebellar degeneration. J Neuroimmunol. 2005;165:172–8.PubMedCrossRef
208.
Ichikawa H, Susuki K, Yuki N, Kawamura M. Ataxic form of Guillain-Barre syndrome associated with anti-GD1b IgG antibody. Rinsho Shinkeigaku. 2001;41:523–5.PubMed
209.
Araki T, Nakata H, Kusunoki S, Arai Y, Katayama Y. Immunoadsorption therapy with TR-350 (tryptophan column) for Guillain-Barre syndrome: investigation including serum antiganglioside antibody assay. Rinsho Shinkeigaku. 2000;40:979–85.PubMed
210.
Kaida K, Kamakura K, Ogawa G, Ueda M, Motoyoshi K, Arita M, et al. GD1b-specific antibody induces ataxia in Guillain-Barre syndrome. Neurology. 2008;71:196–201.PubMedCrossRef
211.
Ito M, Matsuno K, Sakumoto Y, Hirata K, Yuki N: Ataxic Guillain-Barré syndrome and acute sensory ataxic neuropathy form a continuous spectrum. J Neurol Neurosurg Psychiatry 2011, 82:294-299.
212.
Jarius S, Wildemann B. ‘Medusa head ataxia’: the expanding spectrum of Purkinje cell antibodies in autoimmune cerebellar ataxia. Part 2: Anti-PKC-gamma, anti-GluR-delta2, anti-Ca/ARHGAP26 and anti-VGCC. J Neuroinflammation. 2015, 12:167.
213.
Jarius S, Wildemann B. ‘Medusa head ataxia’: the expanding spectrum of Purkinje cell antibodies in autoimmune cerebellar ataxia. Part 3: Anti-Yo/CDR2, anti-Nb/AP3B2, PCA-2, anti-Tr/DNER, other antibodies, diagnostic pitfalls, summary and outlook. J Neuroinflammation. 2015, 12: 168.
Metadata
Title
‘Medusa head ataxia’: the expanding spectrum of Purkinje cell antibodies in autoimmune cerebellar ataxia. Part 1: Anti-mGluR1, anti-Homer-3, anti-Sj/ITPR1 and anti-CARP VIII
Authors
S. Jarius
B. Wildemann
Publication date
01-12-2015
Publisher
BioMed Central
Published in
Journal of Neuroinflammation / Issue 1/2015
Electronic ISSN: 1742-2094
DOI
https://doi.org/10.1186/s12974-015-0356-y

Other articles of this Issue 1/2015

Journal of Neuroinflammation 1/2015 Go to the issue

Research

Regulation of autophagy by the nuclear factor κB signaling pathway in the hippocampus of rats with sepsis

Research

Vaccine-induced Aβ-specific CD8+ T cells do not trigger autoimmune neuroinflammation in a murine model of Alzheimer’s disease

Research

CXCR2 is essential for cerebral endothelial activation and leukocyte recruitment during neuroinflammation

Research

Nlrp6 promotes recovery after peripheral nerve injury independently of inflammasomes

Research

HMGB1 promotes the activation of NLRP3 and caspase-8 inflammasomes via NF-κB pathway in acute glaucoma

Research

Neuropsychiatric systemic lupus erythematosus persists despite attenuation of systemic disease in MRL/lpr mice