Information de reference pour ce titreAccession Number: | 01445483-201204000-00006.
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Author: | Matej, Radoslav MD, PhD 1,2,3; Kovacs, Gabor G. MD, PhD 3; Johanidesova, Silvie MSc 4; Keller, Jiri MD 2,5; Matejckova, Milada MSc 1; Novakova, Jana PhD 1; Sigut, Vladimir MD 6; Keller, Otakar MD, PhD 4; Rusina, Robert MD, PhD 4,*
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Institution: | (1)Department of Pathology and Molecular Medicine, Thomayer Teaching Hospital, Prague, Czech Republic (2)Third Faculty of Medicine, Charles University in Prague, Prague, Czech Republic (3)Institute of Neurology, Medical University of Vienna, Vienna, Austria (4)Department of Neurology, Thomayer Teaching Hospital and Institute for Postgraduate Education in Medicine, Prague, Czech Republic (5)Department of Radiology, Na Homolce Hospital, Prague, Czech Republic (6)Department of Neurology, District Hospital, Krnov, Czech Republic
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Title: | |
Source: | Movement Disorders. 27(4):476-479, April 2012.
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References: | 1. Kovacs GG, Seguin J, Quadrio I, et al. Genetic Creutzfeldt-Jakob disease associated with the E200K mutation: characterization of a complex proteinopathy. Acta Neuropathol. 2011; 121: 39-57.
2. Litvan I, Bhatia KP, Burn DJ, et al. Movement Disorders Society Scientific Issues Committee report: SIC Task Force appraisal of clinical diagnostic criteria for Parkinsonian disorders. Mov Disord. 2003; 18: 467-486.
3. Rusina R, Kovacs GG, Fiala J, et al. FTLD-TDP with motor neuron disease, visuospatial impairment and a progressive supranuclear palsy-like syndrome: broadening the clinical phenotype of TDP-43 proteinopathies. A report of three cases. BMC Neurol. 2011; 11: 50.
4. Josephs KA, Tsuboi Y, Dickson DW. Creutzfeldt-Jakob disease presenting as progressive supranuclear palsy. Eur J Neurol. 2004; 11: 343-346.
5. Bertoni JM, Brown P, Goldfarb LG, Rubenstein R, Gajdusek DC. Familial Creutzfeldt-Jakob disease (codon 200 mutation) with supranuclear palsy. JAMA. 1992; 268: 2413-2415.
6. Parchi P, Giese A, Capellari S, et al. Classification of sporadic Creutzfeldt-Jakob disease based on molecular and phenotypic analysis of 300 subjects. Ann Neurol. 1999; 46: 224-233.
7. Williams DR, Lees AJ. Progressive supranuclear palsy: clinicopathological concepts and diagnostic challenges. Lancet Neurol. 2009; 8: 270-279.
8. Flint AC, Williams O. Bilateral internuclear ophthalmoplegia in progressive supranuclear palsy with an overriding oculocephalic maneuver. Mov Disord. 2005; 20: 1069-1071.
9. Zerr I, Kallenberg K, Summers DM, et al. Updated clinical diagnostic criteria for sporadic Creutzfeldt-Jakob disease. Brain. 2009; 132: 2659-2668.
10. Roeber S, Krebs B, Neumann M, et al. Creutzfeldt-Jakob disease in a patient with an R208H mutation of the prion protein gene (PRNP) and a 17-kDa prion protein fragment. Acta Neuropathol. 2005; 109: 443-448.
11. Prasad S, Ko MW, Lee EB, Gonatas NK, Stern MB, Galetta S. Supranuclear vertical gaze abnormalities in sporadic Creutzfeldt-Jakob disease. J Neurol Sci. 2007; 253: 69-72.
12. Basset-Leobon C, Uro-Coste E, Peoc'h K, et al. Familial Creutzfeldt-Jakob disease with an R208H-129V haplotype and kuru plaques. Arch Neurol. 2006; 63: 449-452.
13. Vymazal J, Righini A, Brooks RA, et al. T1 and T2 in the brain of healthy subjects, patients with Parkinson disease, and patients with multiple system atrophy: relation to iron content. Radiology, 1999; 211: 489-495.
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Language: | English.
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Document Type: | Clinical Vignettes.
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Journal Subset: | Clinical Medicine.
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ISSN: | 0885-3185
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DOI Number: | https://dx.doi.org/10.1002/mds.2...- ouverture dans une nouvelle fenêtre
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