Familial Creutzfeldt-Jakob disease with V180I mutation

Journal of Korean Medical Science

Volumn 25, Issue 7, 2010, Pages 1097-1100

  Yang, Tae Il ^a   Jung, Dae Soo ^a   Ahn, Bo Young ^a   Jeong, Byung Hoon ^b   Cho, Han Jeong ^b   Kim, Yong Sun ^b   Na, Duk L ^c   Geschwind, Michael D ^d   Kim, Eun Joo ^a  

^a Pusan National University Hospital   (South Korea)

^b Hallym University   (South Korea)

^c Sungkyunkwan University School of Medicine   (South Korea)

^d UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Codon 180; Creutzfeldt Jakob syndrome; Prion protein gene

Indexed keywords

AGED; ARTICLE; CASE REPORT; CODON; CREUTZFELDT JAKOB DISEASE; FEMALE; GENETICS; HUMAN; NEUROPSYCHOLOGICAL TEST; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; POINT MUTATION; PRION; SOUTH KOREA;

AGED; BASE SEQUENCE; CODON; CREUTZFELDT-JAKOB SYNDROME; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; NEUROPSYCHOLOGICAL TESTS; POINT MUTATION; PRIONS; REPUBLIC OF KOREA;

CODON; PRION;

EID: 77956528487     PISSN: 10118934     EISSN: 15986357     Source Type: Journal    
DOI: 10.3346/jkms.2010.25.7.1097     Document Type: Article

References (15)

1. Rabinovici GD, Wang PN, Levin J, Cook L, Pravdin M, Davis J, DeArmond SJ, Barbaro NM, Martindale J, Miller BL, Geschwind MD. First symptom in sporadic Creutzfeldt-Jakob disease. Neurology 2006; 66: 286-7.
2. Heinemann U, Krasnianski A, Meissner B, Grasbon-Frodl EM, Kretzs- chmar HA, Zerr I. Novel PRNP mutation in a patient with a slow progressive dementia syndrome. Med Sci Monit 2008; 14: CS41-3.
3. Kong QK, Surewicz WK, Petersen RB, Zhou W, Chen SG, Gambetti P, Parchi P, Capellari S, Goldfarb L, Montagna P, Lugaresi E, Piccardo P, Ghetti B. Inherited Prion Diseases. In Prusiner SB, ed. Prion Biology and Disease. 2nd ed. Cold Spring Harbor: Cold Spring Harbor Laboratory Press 2004; 673-776.
4. Zerr I, Poser S. Clinical diagnosis and differential diagnosis of CJD and vCJD. With special emphasis on laboratory tests. APMIS 2002;110:88-98.
5. WHO Global surveillance, diagnosis and therapy of human transmissible spongiform encephalopathies: Report of a WHO consultation. In World Health Organization, Emerging and other communicable diseases, surveillance and control. Geneva: WHO 1998; February 9-11.
6. Shiga Y, Miyazawa K, Sato S, Fukushima R, Shibuya S, Sato Y, Konno H, Doh-ura K, Mugikura S, Tamura H, Higano S, Takahashi S, Itoyama Y. Diffusion-weighted MRI abnormalities as an early diagnostic marker for Creutzfeldt-Jakob disease. Neurology 2004; 63: 443-9.
7. Young GS, Geschwind MD, Fischbein NJ, Martindale JL, Henry RG, Liu S, Lu Y, Wong S, Liu H, Miller BL, Dillon WP. Diffusion-weighted and fluidattenuated inversion recovery imaging in Creutzfeldt-Jakob disease: high sensitivity and specificity for diagnosis. AJNR Am J Neuroradiol 2005; 26: 1551-62.
8. Collins SJ, Sanchez-Juan P, Masters CL, Klug GM, van Duijn C, Poleggi A, Pocchiari M, Almonti S, Cuadrado-Corrales N, de Pedro-Cuesta J, Budka H, Gelpi E, Glatzel M, Tolnay M, Hewer E, Zerr I, Heinemann U, Kretszchmar HA, Jansen GH, Olsen E, Mitrova E, Alpérovitch A, Brandel JP, Mackenzie J, Murray K, Will RG. Determinants of diagnostic investigation sensitivities across the clinical spectrum of sporadic Creutzfeldt-Jakob disease. Brain 2006; 129: 2278-87.
9. Steinhoff BJ, Zerr I, Glatting M, Schulz-Schaeffer W, Poser S, Kretzschmar HA. Diagnostic value of periodic complexes in Creutzfeldt-Jakob disease. Ann Neurol 2004; 56: 702-8.
10. Geschwind MD, Josephs KA, Parisi JE, Keegan BM. A 54-year-old man with slowness of movement and confusion. Neurology 2007; 69: 1881-7.
11. Yamada M. Prion diseases in Japan: analysis of 918 patients. Rinsho Shin-keigaku 2007; 47: 805-8.
12. Chasseigneaux S, Haik S, Laffont-Proust I, De Marco O, Lenne M, Brandel JP, Hauw JJ, Laplanche JL, Peoc'h K. V180I mutation of the prion protein gene associated with atypical PrPSc glycosylation. Neurosci Lett 2006; 408: 165-9.
13. Nixon R, Camicioli R, Jamison K, Cervenakova L, Mastrianni JA. The PRNP-V180I mutation is associated with abnormally glycosylated PrPCJD and Intracellular PrP accumulations. Presented at XIVth International Congress of Neuropathology Scientific Programme. Brain Pathology 2000; 10: 670.
14. Jin K, Shiga Y, Shibuya S, Chida K, Sato Y, Konno H, Doh-ura K, Kitamoto T, Itoyama Y. Clinical features of Creutzfeldt-Jakob disease with V180I mutation. Neurology 2004; 62: 502-5.
15. Alperovitch A, Zerr I, Pocchiari M, Mitrova E, de Pedro Cuesta J, Hegyi I, Collins S, Kretzschmar H, van Duijn C, Will RG. Codon 129 prion protein genotype and sporadic Creutzfeldt-Jakob disease. Lancet 1999; 353: 1673-4.