DOI QR코드

DOI QR Code

Familial Creutzfeldt-Jakob Disease with V180I Mutation Presented with Broca's Aphasia

브로카실어증으로 발현한 가족성 V180I 변이 Creutzfeldt-Jakob병

  • Kim, Jeongyeon (Department of Neurology, College of Medicine, Dong-A University) ;
  • Lee, Deok-Soo (Department of Neurology, College of Medicine, Dong-A University) ;
  • Park, Kyung Won (Department of Neurology, College of Medicine, Dong-A University)
  • 김정연 (동아대학교 의과대학 신경과학교실) ;
  • 이덕수 (동아대학교 의과대학 신경과학교실) ;
  • 박경원 (동아대학교 의과대학 신경과학교실)
  • Received : 2018.06.14
  • Accepted : 2018.08.10
  • Published : 2018.11.30

Abstract

Familial Creutzfeldt-Jakob Disease (fCJD) is characteristic with older age onset, relatively low occurrence rate, slower progression and lower possibility of developing myoclonus, cerebellar, pyramidal signs and visual disturbance compared with classical sporadic CJD. We report a case of 75-year-old male patient presented with sudden onset of right side weakness with Broca's aphasia who has been diagnosed with fCJD with V180I mutation. This case indicates that fCJD with V180I mutation can have stroke-like initial presentation.

Keywords

References

  1. Yang TI, Jung DS, Ahn BY, Jeong BH, Cho HJ, Kim YS, et al. Familial Creutzfeldt-Jakob Disease with V180I mutation. J Korean Med Sci 2010;25:1097-1100. https://doi.org/10.3346/jkms.2010.25.7.1097
  2. Jeong BH, Ju WK, Huh K, Lee EA, Choi IS, Im JH, et al. Molecular analysis of Prion Protein Gene (PRNP) in Korean patients with Creutzfeldt-Jakob Disease. J Korean Med Sci 1998;13:234-240. https://doi.org/10.3346/jkms.1998.13.3.234
  3. Heinemann U, Krasnianski A, Meissner B, Grasbon-Frodl EM, Kretzschmar HA, Zerr I. Novel PRNP mutation in a patient with a slow progressive dementia syndrome. Med Sci Monit 2008;14:CS41-CS43.
  4. Joo JJ, Yang YS, Kang JH, Lee SH, Ha SW, Han JH, et al. A case of Familial Creutzfeldt-Jacob Disease (V180I) initially presenting with depression. Dement Neurocognitive Disord 2012;11:74-77. https://doi.org/10.12779/dnd.2012.11.2.74
  5. Qina T, Sanjo N, Hizume M, Higuma M, Tomita M, Atarashi R, et al. Clinical features of genetic Creutzfeldt-Jakob disease with V180I mutation in the prion protein gene. BMJ Open 2014;4:e004968. https://doi.org/10.1136/bmjopen-2014-004968
  6. Amano Y, Kimura N, Hanaoka T, Aso Y, Hirano T, Murai H, et al. Creutzfeldt-Jakob Disease with a prion protein gene codon 180 mutation presenting asymmetric cortical high-intensity on magnetic resonance imaging. Prion 2015;9:29-33. https://doi.org/10.1080/19336896.2015.1017703
  7. Yeo MJ, Lee SH, Lee SY, Jeon YC, Park SJ, Cho HJ, et al. Familial Creutzfeldt-Jakob disease with mutation at codon 180 presenting with an atypical phenotype. J Clin Neurosci 2013;20:180-182. https://doi.org/10.1016/j.jocn.2012.01.044
  8. Common K, Ahmed A, Adrian H, Kayvan K, Randa AE, Kamran R. Sporadic CJD presenting with aphasia diagnosed in medical admissions unit. Eur J Intern Med 2011;22 Supplement 1:S111.
  9. Shuttleworth E, Yates AJ, Paltan-Oritz JD. Creutzfeldt-Jakob disease presenting as progressive aphasia J Natl Med Assoc 1985;77:649-657.