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Monozygotic twins with stiff person syndrome and autoimmune thyroiditis: rituximab inefficacy in a double-blind, randomised, placebo controlled crossover study
  1. N Venhoff1,
  2. M Rizzi1,
  3. U Salzer1,
  4. L Bossaller1,
  5. J Thoden1,
  6. H Eibel1,
  7. U A Walker2
  1. 1
    University Hospital Freiburg, Department of Rheumatology and Clinical Immunology, Freiburg, Germany
  2. 2
    University Hospital Basel, Department of Rheumatology, Basel, Switzerland
  1. Correspondence to Dr U A Walker, Basel University, Department of Rheumatology, Burgfelderstrasse 101, CH 4012 Basel, Switzerland; ulrich.walker{at}fps-basel.ch

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Autoimmune polyglandular syndromes result from the failure of multiple endocrine glands due to an autoimmune process. In autoimmune polyglandular syndrome type 3, autoimmune thyroiditis is associated with autoimmune diseases other than Addison’s disease and hypoparathyroidism.1

We report two identical twins with the rare combination of autoimmune thyroiditis with stiff person syndrome (SPS). SPS presents with progressive muscle rigidity and spasms of axial muscles and extremities.2 The majority of SPS patients have serum autoantibodies against glutamic acid decarboxylase (GAD)65,3 an enzyme responsible for the synthesis of γ-aminobutyric acid (GABA), the major inhibitory neurotransmitter of the central nervous system (CNS). GAD65 antibodies probably play a direct pathogenetic role in SPS because they are found within the cerebrospinal fluid (CSF) and block the activity of …

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