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A case of variably protease-sensitive prionopathy treated with doxycyclin
  1. Hamid Assar1,
  2. Raffi Topakian2,
  3. Serge Weis3,
  4. Jasmin Rahimi4,
  5. Johannes Trenkler5,
  6. Romana Höftberger4,
  7. Fahmy Aboulenein-Djamshidian6,
  8. Thomas Ströbel4,
  9. Herbert Budka7,
  10. Helen Yull8,
  11. Mark W Head8,
  12. James W Ironside8,
  13. Gabor G Kovacs4
  1. 1 Neuromedizinisches Ambulanzzentrum, State Neuropsychiatric Hospital Wagner-Jauregg, Medical School, Johannes Kepler University of Linz, Linz, Austria
  2. 2 Department of Neurology, Klinikum Wels-Grieskirchen, Wels, Austria
  3. 3 Laboratory of Neuropathology, Department of Pathology and Neuropathology, State Neuropsychiatric Hospital Wagner-Jauregg, Medical School, Johannes Kepler University of Linz, Linz, Austria
  4. 4 Institute of Neurology, Medical University of Vienna and Austrian Reference Centre for Human Prion Diseases, Vienna, Austria
  5. 5 Institute of Radiology, State Neuropsychiatric Hospital Wagner-Jauregg, Medical School, Johannes Kepler University of Linz, Linz, Austria
  6. 6 Department of Neurology, SMZ-Ost Donauspital, Karl Landsteiner Institute for Neuroimmunological and Neurodegenerative Disorders, Vienna, Austria
  7. 7 Institute of Neuropathology, University Hospital Zürich, Zürich, Switzerland
  8. 8 National CJD Research & Surveillance Unit, University of Edinburgh, Edinburgh, UK
  1. Correspondence to Professor Gabor G Kovacs, Institute of Neurology, Medical University of Vienna and Austrian Reference Centre for Human Prion Diseases, AKH 4J, Währinger Gürtel 18–20, Vienna A-1097, Austria; gabor.kovacs{at}meduniwien.ac.at

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Variably protease-sensitive prionopathy (VPSPr) is a recently described neurodegenerative disorder characterised by the presence of spongiform encephalopathy and an unusual immunostaining and immunoblotting pattern for the disease-associated prion protein (PrPSc).1 This links VPSPr to human prion diseases, which are uniformly fatal disorders. The clinical symptoms and the longer duration of illness make VPSPr distinct from sporadic or idiopathic Creutzfeldt-Jakob disease (sCJD).1 Doxycycline treatment has been evaluated in patients with prion disease, however, there is little evidence that it can reverse the clinical symptoms or reduce the underlying disease progression once established.2 We present a patient with VPSPr who received doxycycline and survived for an extended period of time in an akinetic and mute state.

Neuropathological examination was performed using published methods and various anti-PrP antibodies.3 Frozen tissues from selected brain regions were available for biochemical analysis. Tissues were analysed for the presence of protease-resistant PrP (PrPres) as previously described (see online supplementary material).4

In May 2007, a registered psychiatrist suspected an organic affective disorder in a 54-year-old Austrian woman. Two months earlier, medical work-up for presumed weight loss of 16 kg within the past 18 months had been unremarkable. In June 2007, the patient was admitted to a clinic that specialised in disorders of the nervous system. Her family history was negative for neurodegenerative diseases and there was no evidence of exposure to toxins. She reported depressed mood and short-term memory problems, and difficulties with balance, walking, driving and cooking. On neuropsychological examination she was oriented to time, place, person and situation, Mini-Mental State Examination score was 22/30, clock drawing test score was 3/9. She had word-finding difficulties, ideational apraxia, acalculia and visuoconstructive deficits. She displayed affective incontinence with crying fits. She had gait ataxia, and extensor plantar responses were observed with increased tone …

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