대한수의학회지 (Korean Journal of Veterinary Research)

  • 제62권4호
  • /
  • Pages.27.1-27.4
  • /
  • 2022
  • /
  • 2466-1384(pISSN)
  • /
  • 2466-1392(eISSN)
대한수의학회 (The Korean Society of Veterinary Science)
권호 표지
DOI QR코드

DOI QR Code

Neuronal ceroid lipofuscinosis in a Border Collie: a case report

  • Minsu, Seo (Laboratory of Veterinary Internal Medicine, College of Veterinary Medicine, Chungbuk National University) ;
  • Yoonhoi, Koo (Laboratory of Veterinary Internal Medicine, College of Veterinary Medicine, Chungbuk National University) ;
  • Dongjoon, Choi (Laboratory of Veterinary Internal Medicine, College of Veterinary Medicine, Chungbuk National University) ;
  • Sanggu, Kim (Laboratory of Veterinary Pathology, College of Veterinary Medicine, Chungbuk National University) ;
  • Taesik, Yun (Laboratory of Veterinary Internal Medicine, College of Veterinary Medicine, Chungbuk National University) ;
  • Yeon, Chae (Laboratory of Veterinary Internal Medicine, College of Veterinary Medicine, Chungbuk National University) ;
  • Dohee, Lee (Laboratory of Veterinary Internal Medicine, College of Veterinary Medicine, Chungbuk National University) ;
  • Hakhyun, Kim (Laboratory of Veterinary Internal Medicine, College of Veterinary Medicine, Chungbuk National University) ;
  • Mhan-Pyo, Yang (Laboratory of Veterinary Internal Medicine, College of Veterinary Medicine, Chungbuk National University) ;
  • Soochong, Kim (Laboratory of Veterinary Pathology, College of Veterinary Medicine, Chungbuk National University) ;
  • Byeong-Teck, Kang (Laboratory of Veterinary Internal Medicine, College of Veterinary Medicine, Chungbuk National University)
  • 투고 : 2022.07.18
  • 심사 : 2022.11.08
  • 발행 : 2022.12.31
PDF 다운로드
⟨ 이전 논문 다음 논문 ⟩

초록

A 2-year-old spayed female Border Collie presented with visual deficits and behavioral changes. Neurological examination revealed bilateral menace response deficit with a normal pupil light reflex. Cerebral cortical thinning, cerebral sulci and cerebellar fissure widening, ventriculomegaly, and cerebral atrophy were observed on magnetic resonance imaging (MRI). Histopathology revealed fluorescent lipopigment accumulation in the cerebrum, and the dog was diagnosed with neuronal ceroid lipofuscinosis. This is the first case report describing the changes in clinical signs, MRI findings, and histopathologic changes in neuronal ceroid lipofuscinosis in Korea.

키워드

과제정보

This work was supported by the National Research Foundation of Korea (NRF) grant funded by the Korea government (MSIT) (No. 2021R1A2C1012058) and the Basic Research Lab Program (2022R1A4A1025557) through the NRF of Korea, funded by the Ministry of Science and ICT.

참고문헌

  1. Nita DA, Mole SE, Minassian BA. Neuronal ceroid lipofuscinoses. Epileptic Disord 2016;18:73-88.  https://doi.org/10.1684/epd.2016.0804
  2. Kick GR, Meiman EJ, Sabol JC, Whiting RE, Ota-Kuroki J, Castaner LJ, Jensen CA, Katz ML. Visual system pathology in a canine model of CLN5 neuronal ceroid lipofuscinosis. Exp Eye Res 2021;210:108686.  https://doi.org/10.1016/j.exer.2021.108686
  3. Nakamoto Y, Yamato O, Uchida K, Nibe K, Tamura S, Ozawa T, Ueoka N, Nukaya A, Yabuki A, Nakaichi M. Neuronal ceroid-lipofuscinosis in longhaired Chihuahuas: clinical, pathologic, and MRI findings. J Am Anim Hosp Assoc 2011;47:e64-e70.  https://doi.org/10.5326/JAAHA-MS-5564
  4. Faller KM, Bras J, Sharpe SJ, Anderson GW, Darwent L, Kun-Rodrigues C, Alroy J, Penderis J, Mole SE, Gutierrez-Quintana R, Guerreiro RJ. The Chihuahua dog: a new animal model for neuronal ceroid lipofuscinosis CLN7 disease? J Neurosci Res 2016;94:339-347.  https://doi.org/10.1002/jnr.23710
  5. Villani NA, Bullock G, Michaels JR, Yamato O, OEBrien DP, Mhlanga-Mutangadura T, Johnson GS, Katz ML. A mixed breed dog with neuronal ceroid lipofuscinosis is homozygous for a CLN5 nonsense mutation previously identified in Border Collies and Australian Cattle Dogs. Mol Genet Metab 2019;127:107-115.  https://doi.org/10.1016/j.ymgme.2019.04.003
  6. Koie H, Shibuya H, Sato T, Sato A, Nawa K, Nawa Y, Kitagawa M, Sakai M, Takahashi T, Yamaya Y, Yamato O, Watari T, Tokuriki M. Magnetic resonance imaging of neuronal ceroid lipofuscinosis in a border collie. J Vet Med Sci 2004;66:1453-1456.  https://doi.org/10.1292/jvms.66.1453
  7. Haltia M. The neuronal ceroid-lipofuscinoses. J Neuropathol Exp Neurol 2003;62:1-13.  https://doi.org/10.1093/jnen/62.1.1
  8. Rosenberg JB, Chen A, Kaminsky SM, Crystal RG, Sondhi D. Advances in the treatment of neuronal ceroid lipofuscinosis. Expert Opin Orphan Drugs 2019;7:473-500.  https://doi.org/10.1080/21678707.2019.1684258
  9. Caldwell DS, Little PB. Aggression in dogs and associated neuropathology. Can Vet J 1980;21:152-154. 
  10. Taylor RM, Farrow BR. Ceroid lipofuscinosis in the border collie dog: retinal lesions in an animal model of juvenile Batten disease. Am J Med Genet 1992;42:622-627.  https://doi.org/10.1002/ajmg.1320420438
  11. Mizukami K, Kawamichi T, Koie H, Tamura S, Matsunaga S, Imamoto S, Saito M, Hasegawa D, Matsuki N, Tamahara S, Sato S, Yabuki A, Chang HS, Yamato O. Neuronal ceroid lipofuscinosis in Border Collie dogs in Japan: clinical and molecular epidemiological study (2000-2011). ScientificWorldJournal 2012;2012:383174. 
  12. Studdert VP, Mitten RW. Clinical features of ceroid lipofuscinosis in border collie dogs. Aust Vet J 1991;68:137-140.  https://doi.org/10.1111/j.1751-0813.1991.tb03156.x
  13. Hasegawa D, Yamato O, Nakamoto Y, Ozawa T, Yabuki A, Itamoto K, Kuwabara T, Fujita M, Takahashi K, Mizoguchi S, Orima H. Serial MRI features of canine GM1 gangliosidosis: a possible imaging biomarker for diagnosis and progression of the disease. ScientificWorldJournal 2012;2012:250197. 
  14. Matsuki N, Yamato O, Kusuda M, Maede Y, Tsujimoto H, Ono K. Magnetic resonance imaging of GM2-gangliosidosis in a golden retriever. Can Vet J 2005;46:275-278. 
  15. Gilliam D, Kolicheski A, Johnson GS, Mhlanga-Mutangadura T, Taylor JF, Schnabel RD, Katz ML. Golden Retriever dogs with neuronal ceroid lipofuscinosis have a two-base-pair deletion and frameshift in CLN5. Mol Genet Metab 2015;115:101-109. https://doi.org/10.1016/j.ymgme.2015.04.001