Clinical features of genetic Creutzfeldt-Jakob disease with V180I mutation in the prion protein gene

BMJ Open

Volumn 4, Issue 5, 2014, Pages

  Qina, Temu ^a   Sanjo, Nobuo ^a   Hizume, Masaki ^a   Higuma, Maya ^a   Tomita, Makoto ^a   Atarashi, Ryuichiro ^b   Satoh, Katsuya ^b   Nozaki, Ichiro ^c   Hamaguchi, Tsuyoshi ^d   Nakamura, Yosikazu ^e   Kobayashi, Atsushi ^f   Kitamoto, Tetsuyuki ^f   Murayama, Shigeo ^g   Murai, Hiroyuki ^h   Yamada, Masahito ^d   Mizusawa, Hidehiro ^a  

^a TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

^b NAGASAKI UNIVERSITY   (Japan)

^c National Hospital Organization Iou National Hospital   (Japan)

^d KANAZAWA UNIVERSITY   (Japan)

^e JICHI MEDICAL UNIVERSITY   (Japan)

^f TOHOKU UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^g Tokyo Metropolitan Institute of Gerontology   (Japan)

^h KYUSHU UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

BIOLOGICAL MARKER; GLUTAMIC ACID; METHIONINE; PRION PROTEIN; VALINE; PRION; PRNP PROTEIN, HUMAN;

ADULT; AGE; AGED; AKINETIC MUTISM; ARTICLE; BRAIN CORTEX; BRAIN DAMAGE; CEREBELLUM DISEASE; CEREBROSPINAL FLUID; CLINICAL FEATURE; CODON; COGNITIVE DEFECT; CONTROLLED STUDY; CREUTZFELDT JAKOB DISEASE; DEMENTIA; DIFFERENTIAL DIAGNOSIS; DIFFUSION WEIGHTED IMAGING; DISEASE COURSE; DISEASES; ELECTROENCEPHALOGRAM; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENETIC DISORDER; GENETICS; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; JAPANESE (PEOPLE); MAJOR CLINICAL STUDY; MALE; MYOCLONUS; NERVOUS SYSTEM PARAMETERS; NEUROLOGIC DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; PERIODIC SHARP WAVE COMPLEX; PYRAMIDAL SIGN; VISUAL DISORDER; CREUTZFELDT-JAKOB SYNDROME; MIDDLE AGED; MUTATION; PRION; RETROSPECTIVE STUDY; VERY ELDERLY;

ADULT; AGED; AGED, 80 AND OVER; CREUTZFELDT-JAKOB SYNDROME; FEMALE; HUMANS; MALE; MIDDLE AGED; MUTATION; PRIONS; RETROSPECTIVE STUDIES;

EID: 84901489540     PISSN: None     EISSN: 20446055     Source Type: Journal    
DOI: 10.1136/bmjopen-2014-004968     Document Type: Article

References (31)

1. Collinge J. Prion diseases of humans and animals: their causes and molecular basis. Annu Rev Neurosci 2001;24:519-50. (Pubitemid 32695238)
2. Ironside JW, Ritchie DL, Head MW. Phenotypic variability in human prion diseases. Neuropathol Appl Neurobiol 2005;31:565-79. (Pubitemid 41668366)
3. Kovacs GG, Puopolo M, Ladogana A, et al. Genetic prion disease: the EUROCJD experience. Hum Genet 2005;118:166-74. (Pubitemid 41672078)
4. Nozaki I, Hamaguchi T, Sanjo N, et al. Prospective 10-year surveillance of human prion diseases in Japan. Brain 2010;133:3043-57.
5. Higuma M, Sanjo N, Satoh K, et al. Relationships between clinicopathological features and cerebrospinal fluid biomarkers in Japanese patients with genetic prion diseases. PLoS ONE 2013;8:e60003.
6. Iwasaki Y, Mori K, Ito M, et al. An autopsied case of V180I Creutzfeldt-Jakob disease presenting with panencephalopathic-type pathology and a characteristic prion protein type. Neuropathology 2011;31:540-8.
7. Yoshida H, Terada S, Ishizu H, et al. An autopsy case of Creutzfeldt-Jakob disease with a V180I mutation of the PrP gene and Alzheimer-type pathology. Neuropathology 2010;30:159-64.
8. Kono S, Manabe Y, Fujii D, et al. Serial diffusion-weighted MRI and SPECT findings in a Creutzfeldt-Jakob disease patient with V180I mutation. J Neurol Sci 2011;301:100-3.
9. Jin K, Shiga Y, Shibuya S, et al. Clinical features of Creutzfeldt-Jakob disease with V180I mutation. Neurology 2004;62:502-5. (Pubitemid 38200873)
10. Kitamoto T, Ohta M, Doh-ura K, et al. Novel missense variants of prion protein in Creutzfeldt-Jakob disease or Gerstmann-Straussler syndrome. Biochem Biophys Res Commun 1993;191:709-14. (Pubitemid 23222693)
11. Satoh K, Tobiume M, Matsui Y, et al. Establishment of a standard 14-3-3 protein assay of cerebrospinal fluid as a diagnostic tool for Creutzfeldt-Jakob disease. Lab Invest 2010;90:1637-44.
12. Atarashi R, Satoh K, Sano K, et al. Ultrasensitive human prion detection in cerebrospinal fluid by real-time quaking-induced conversion. Nat Med 2011;17:175-8.
13. Terasawa Y, Fujita K, Izumi Y, et al. Early detection of familial Creutzfeldt-Jakob disease on diffusion-weighted imaging before symptom onset. J Neurol Sci 2012;319:130-2.
14. Gambetti P, Kong Q, Zou W, et al. Sporadic and familial CJD: classification and characterisation. Br Med Bull 2003;66:213-39. (Pubitemid 37173504)
15. Capellari S, Strammiello R, Saverioni D, et al. Genetic Creutzfeldt-Jakob disease and fatal familial insomnia: insights into phenotypic variability and disease pathogenesis. Acta Neuropathol 2011;121:21-37.
16. Ohkubo T, Sakasegawa Y, Asada T, et al. Absence of association between codon 129/219 polymorphisms of the prion protein gene and Alzheimer's disease in Japan. Ann Neurol 2003;54:553-4.
17. Chasseigneaux S, Haik S, Laffont-Proust I, et al. V180I mutation of the prion protein gene associated with atypical PrPSc glycosylation. Neurosci Lett 2006;408:165-9. (Pubitemid 44550155)
18. Xiao X, Yuan J, Haik S, et al. Glycoform-selective prion formation in sporadic and familial forms of prion disease. PLoS ONE 2013;8:e58786.
19. Parchi P, Castellani R, Capellari S, et al. Molecular basis of phenotypic variability in sporadic Creutzfeldt-Jakob disease. Ann Neurol 1996;39:767-78. (Pubitemid 26183813)
20. Parchi P, Strammiello R, Giese A, et al. Phenotypic variability of sporadic human prion disease and its molecular basis: past, present, and future. Acta Neuropathol 2011;121:91-112.
21. Goldfarb LG, Petersen RB, Tabaton M, et al. Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism. Science 1992;258:806-8.
22. Petersen RB, Parchi P, Richardson SL, et al. Effect of the D178N mutation and the codon 129 polymorphism on the metabolism of the prion protein. J Biol Chem 1996;271:12661-8. (Pubitemid 26160942)
23. Schelzke G, Kretzschmar HA, Zerr I. Clinical aspects of common genetic Creutzfeldt-Jakob disease. Eur J Epidemiol 2012;27:147-9.
24. Palmer MS, Dryden AJ, Hughes JT, et al. Homozygous prion protein genotype predisposes to sporadic Creutzfeldt-Jakob disease. Nature 1991;352:340-2. (Pubitemid 21912354)
25. Petraroli R, Pocchiari M. Codon 219 polymorphism of PRNP in healthy Caucasians and Creutzfeldt-Jakob disease patients. Am J Hum Genet 1996;58:888-9. (Pubitemid 26086681)
26. Shibuya S, Higuchi J, Shin RW, et al. Codon 219 Lys allele of PRNP is not found in sporadic Creutzfeldt-Jakob disease. Ann Neurol 1998;43:826-8. (Pubitemid 28280227)
27. Jeong BH, Lee KH, Kim NH, et al. Association of sporadic Creutzfeldt-Jakob disease with homozygous genotypes at PRNP codons 129 and 219 in the Korean population. Neurogenetics 2005;6:229-32.
28. Yang TI, Jung DS, Ahn BY, et al. Familial Creutzfeldt-Jakob disease with V180I mutation. J Korean Med Sci 2010;25:1097-100.
29. Iwasaki Y. Three cases of Creutzfeldt-Jakob disease with prion protein gene codon 180 mutation presenting with pathological laughing and crying. J Neurol Sci 2012;319:47-50.
30. Suzuki K, Matsumura N, Suzuki T, et al. Creutzfeldt-Jakob disease with V180I mutation and senile plaque. Geriatr Gerontol Int 2009;9:210-12.
31. Mutsukura K, Satoh K, Shirabe S, et al. Familial Creutzfeldt-Jakob disease with a V180I mutation: comparative analysis with pathological findings and diffusion-weighted images. Dement Geriatr Cogn Disord 2009;28:550-7.