Annals of Clinical Neurophysiology

The Korean Society of Clinical Neurophysiology (대한임상신경생리학회)
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Adult Sandhoff Disease Presenting as Motor Neuron Disease Phenotype

운동신경원성 질환과 유사하게 발현된 샌드호프병

  • Ahn, Suk-Won (Department of Neurology, Seoul National University College of Medicine, Clinical Research Institute of Seoul National University Hospital) ;
  • Kim, Su-Hyun (Department of Neurology, Seoul National University College of Medicine, Clinical Research Institute of Seoul National University Hospital) ;
  • Kim, Su-Yun (Department of Neurology, Seoul National University College of Medicine, Clinical Research Institute of Seoul National University Hospital) ;
  • Kim, Sung-Min (Department of Neurology, Seoul National University College of Medicine, Clinical Research Institute of Seoul National University Hospital) ;
  • Lee, Kwang-Woo (Department of Neurology, Seoul National University College of Medicine, Clinical Research Institute of Seoul National University Hospital) ;
  • Sung, Jung-Joon (Department of Neurology, Seoul National University College of Medicine, Clinical Research Institute of Seoul National University Hospital)
  • 안석원 (서울대학교 의과대학 신경과학교실) ;
  • 김수현 (서울대학교 의과대학 신경과학교실) ;
  • 김수연 (서울대학교 의과대학 신경과학교실) ;
  • 김성민 (서울대학교 의과대학 신경과학교실) ;
  • 이광우 (서울대학교 의과대학 신경과학교실) ;
  • 성정준 (서울대학교 의과대학 신경과학교실)
  • Received : 2009.10.07
  • Accepted : 2009.11.27
  • Published : 2009.12.30
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Abstract

We report a 23-year-old woman with adult Sandhoff disease, who presented with motor neuron disease phenotype. The patient had experienced progressive motor weakness in four extremities since 1 year prior to admission. Electrophysiological study revealed wide-spread denervation potentials, and the assay of total hexosaminidase involving A and B activities showed decreased levels of these activities, which was consistent with Sandoff disease. This is the first Korean case of adult Sanhoff disease presented as a motor neuron disease phenotype.

Keywords

References

  1. Sandhoff K, Conzelmann E, Neufeld EF, Kaback MM, Suzuki K. The GM2 Ganglio sidoses. In: The Metabolic Basis of Inherited Disease, Scriver CR, Beaudet AL, Sly WS, Valle D. Eds. 6th ed. New York: Mc Graw-Hill Inc.1989;1807-1839.
  2. Mark BL, Mahuran DJ, Cherney MM, Zhao D, Knapp S, James MN. Crystal structure of human beta-hexosaminidase B: understanding the molecular basis of Sandhoff and Tay-Sachs disease. J Mol Biol 2003;327:1093-1109. https://doi.org/10.1016/S0022-2836(03)00216-X
  3. Gomez-Lira M, Sangalli A, Mottes M, Perusi C, Pignatti PF, Rizzuto N, et al. A common beta hexosaminidase gene mutation in adult Sandhoff disease patients. Hum Genet 1995;96:417-422.
  4. Yoshizawa T, Kohno Y, Nissato S, Shoji S. Compound heterozygosity with two novel mutations in the HEXB gene produces adult Sandhoff disease presenting as a motor neuron disease phenotype. J Neurol Sci 2002;195:129-138. https://doi.org/10.1016/S0022-510X(02)00007-2
  5. Tay SK, Low PS, Ong HT, Loke KY. Sandhoff disease--a case report of 3 siblings and a review of potential therapies. Ann Acad Med Singapore 2000;29:514-517.
  6. Hendriksz CJ, Corry PC, Wraith JE, Besley GT, Cooper A, Ferrie CD. Juvenile Sandhoff disease--nine new cases and a review of the literature. J Inherit Metab Dis 2004;27:241-249. https://doi.org/10.1023/B:BOLI.0000028777.38551.5a
  7. Ozkara HA, Topçu M, Renda Y. Sandhoff disease in the Turkish population. Brain Dev 1997;19:469-472. https://doi.org/10.1016/S0387-7604(97)00061-2
  8. Jeyakumar M, Norflus F, Tifft CJ, Cortina-Borja M, Butters TD, Proia RL, et al. Enhanced survival in Sandhoff disease mice receiving a combination of substrate deprivation therapy and bone marrow transplantation. Blood 2001;97:327-329. https://doi.org/10.1182/blood.V97.1.327
  9. Pelled D, Lloyd-Evans E, Riebeling C, Jeyakumar M, Platt FM, Futerman AH. Inhibition of calcium uptake via the sarco/endoplasmic reticulum Ca2+-ATPase in a mouse model of Sandhoff disease and prevention by treatment with N-butyldeoxynojirimycin. J Biol Chem 2003;278:2496-2501.
  10. Andersson U, Smith D, Jeyakumar M, Butters TD, Borja MC, Dwek RA, et al. Improved outcome of N-butyl-deoxygalactonojirimycin-mediated substrate reduction therapy in a mouse model of Sandhoff disease. Neurobiol Dis 2004;16:506-515. https://doi.org/10.1016/j.nbd.2004.04.012