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A case of variably protease-sensitive prionopathy treated with doxycyclin

Authors :
James W. Ironside
Romana Höftberger
Thomas Ströbel
Jasmin Rahimi
Raffi Topakian
Helen Yull
Fahmy Aboulenein-Djamshidian
Gabor G. Kovacs
Mark Head
Serge Weis
Johannes Trenkler
Herbert Budka
Hamid Assar
University of Zurich
Kovacs, G G
Source :
Assar, H, Topakian, R, Weis, S, Rahimi, J, Trenkler, J, Höftberger, R, Aboulenein-Djamshidian, F, Ströbel, T, Budka, H, Yull, H, Head, M W, Ironside, J W & Kovacs, G G 2015, ' A case of variably protease-sensitive prionopathy treated with doxycyclin ', Journal of Neurology, Neurosurgery & Psychiatry, vol. 86, no. 7, pp. 816-818 . https://doi.org/10.1136/jnnp-2014-309871
Publication Year :
2015

Abstract

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 …

Details

Language :
English
Database :
OpenAIRE
Journal :
Assar, H, Topakian, R, Weis, S, Rahimi, J, Trenkler, J, Höftberger, R, Aboulenein-Djamshidian, F, Ströbel, T, Budka, H, Yull, H, Head, M W, Ironside, J W & Kovacs, G G 2015, ' A case of variably protease-sensitive prionopathy treated with doxycyclin ', Journal of Neurology, Neurosurgery & Psychiatry, vol. 86, no. 7, pp. 816-818 . https://doi.org/10.1136/jnnp-2014-309871
Accession number :
edsair.doi.dedup.....34e0cf78cf09a16d9b1e7b48510c99f6