Preventive study in subjects at risk of fatal familial insomnia: Innovative approach to rare diseases

REFERENCES

• Carrillo MC, Brashear HR, Logovinsky V, Ryan JM, Feldman HH, Siemers ER, Abushakra S, Hartley DM, Petersen RC, Khachaturian AS, et al. Can we prevent Alzheimer's disease? Secondary “prevention” trials in Alzheimer's disease. Alzheimers & Dement. 2013; 9:123–131; http://dx.doi.org/10.1016/j.jalz.2012.12.004
   PubMed Web of Science ®Google Scholar
• Peters KR, Lynn Beattie B, Feldman HH, Illes J. A conceptual framework and ethics analysis for prevention trials of Alzheimer Disease. Prog Neurobiol. 2013; 110:114–23; PMID:23348495; http://dx.doi.org/10.1016/j.pneurobio.2012.12.001
   PubMedGoogle Scholar
• Collins SJ, Lawson VA, Masters CL. Transmissible spongiform encephalopathies. Lancet. 2004; 363:51–61; PMID:14723996; http://dx.doi.org/10.1016/S0140-6736(03)15171-9
   PubMed Web of Science ®Google Scholar
• Puoti G, Bizzi A, Forloni G, Safar JG, Tagliavini F, Gambetti P. Sporadic human prion diseases: molecular insights and diagnosis. Lancet Neurol. 2012; 11:618–28; PMID:22710755; http://dx.doi.org/10.1016/S1474-4422(12)70063-7
   PubMed Web of Science ®Google Scholar
• Medori R, Tritschler HJ, LeBlanc A, Villare F, Manetto V, Chen HY, Xue R, Leal S, Montagna P, Cortelli P, et al. Fatal familial insomnia, a prion disease with a mutation at codon 178 of the prion protein gene. N Engl J Med. 1992; 326:444–9.; PMID:1346338; http://dx.doi.org/10.1056/NEJM199202133260704
   PubMed Web of Science ®Google Scholar
• Cortelli P, Perani D, Montagna P, Gallassi R, Tinuper P, Provini F, Avoni P, Ferrillo F, Anchisi D, Moresco RM, et al. Pre-symptomatic diagnosis in fatal familial insomnia: serial neurophysiological and 18FDG-PET studies. Brain. 2006, 129:668–75; PMID:16399807; http://dx.doi.org/10.1093/brain/awl003
   PubMed Web of Science ®Google Scholar
• Forloni G, Iussich S, Awan T, Colombo L, Angeretti N, Girola L, Bertani I, Poli G, Caramelli M, Grazia Bruzzone M, et al. Tetracyclines affect prion infectivity. Proc Natl Acad Sci U S A. 2002; 99:10849–54; PMID:12149459; http://dx.doi.org/10.1073/pnas.162195499
   PubMed Web of Science ®Google Scholar
• Forloni G, Salmona M, Marcon G, Tagliavini F. Tetracyclines and prion infectivity. Infect Disord Drug Targets. 2009; 9:23–30; PMID:19200012; http://dx.doi.org/10.2174/1871526510909010023
   PubMedGoogle Scholar
• De Luigi A, Colombo L, Diomede L, Capobianco R, Mangieri M, Miccolo C, Limido L, Forloni G, Tagliavini F, Salmona M. The efficacy of tetracyclines in peripheral and intracerebral prion infection. PLoS One 2008; 3(3):14–15; PMID: 18365024; http://dx.doi.org/10.1371/j
   PubMedGoogle Scholar
• Stoilova T, Colombo L, Forloni G, Tagliavini F, Salmona M. A new face for old antibiotics: tetracyclines in treatment of amyloidoses. J Med Chem 2013; 56: 5987–6006.; PMID:23611039; http://dx.doi.org/10.1021/jm400161p
   PubMed Web of Science ®Google Scholar
• Tagliavini F, Forloni G, Colombo L, Rossi G, Girola L, Canciani B, Angeretti N, Giampaolo L, Peressini E, Awan T, et al. Tetracycline affects abnormal properties of synthetic PrP peptides and PrPSc in vitro. J. Mol. Biol (2000); 300:1309–1322.; PMID:10903871; http://dx.doi.org/10.1006/jmbi.2000.3840
   PubMed Web of Science ®Google Scholar
• Tagliavini F. Prion therapy: Tetracyclic compounds in animal models and patients with Creutzfeldt-Jakob disease. Alzheimers & Dement 2008; 4 (suppl): T149–T150; http://dx.doi.org/10.1016/j.jalz.2008.05.373
   Google Scholar
• Haïk S, Marcon G, Mallet A, Tettamanti M, Welaratne A, Giaccone G, Azimi S, Pietrini V, Fabreguettes JR, Imperiale D, et al. Doxycycline in Creutzfeldt-Jakob disease: a phase 2, randomised, double-blind, placebo-controlled trial. Lancet Neurol. 2014; 13:150–8; PMID: 24411709; http://dx.doi.org/10.1016/S1474-4422(13)70307-7
   PubMed Web of Science ®Google Scholar
• Assar H, Topakian R, Weis S, Rahimi J, Trenkler J, Höftberger R, Aboulenein-Djamshidian F, Ströbel T, Budka H, Yull H, et al. A case of variably protease-sensitive prionopathy treated with doxycyclin. J Neurol Neurosurg Psychiatry. 2015 Jan 9 [Epub ahead of print]; pii: jnnp-2014-309871; PMID: 25575846; http://dx.doi.org/10.1136/jnnp-2014-309871
   PubMedGoogle Scholar
• Pocchiari M, Ladogana A. Rethinking of doxycycline therapy in Creutzfeldt-Jakob disease. J Neurol Neurosurg Psychiatry. 2015 Jan 28 [Epub ahead of print]; pii: jnnp-2014-310127; PMID: 25632154; http://dx.doi.org/10.1136/jnnp-2014-310127
   PubMedGoogle Scholar
• Krasnianski A, Sanchez Juan P, Ponto C, Bartl M, Heinemann U, Varges D, Schulz-Schaeffer WJ, Kretzschmar HA, Zerr I. A proposal of new diagnostic pathway for fatal familial insomnia. J Neurol Neurosurg Psychiatry. 2014; 85:654–9; PMID:24249784; http://dx.doi.org/10.1136/jnnp-2013-305978
   PubMed Web of Science ®Google Scholar