| Home | E-Submission | Sitemap | Editorial Office |  
top_img
Ann Clin Neurophysiol. 2009; 11(2): 74-77.
Adult Sandhoff Disease Presenting as Motor Neuron Disease Phenotype
Suk-Won Ahn, Su-Hyun Kim, Suyun Kim, Sung-Min Kim, Kwang-Woo Lee, and Jung-Joon Sung
Copyright © 2009 The Korean Society of Clinical Neurophysiology
This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
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.
Key words: Sandhoff disease, Motor neuron disease, GM2 gangliosidosis
TOOLS
PDF Links  PDF Links
Download Citation  Download Citation
  E-Mail
  Print
Share:      
METRICS
983
View
5
Download
Related article
Editorial Office
Department of Neurology, Changwon Gyungsang national University Hospital,
11, Samjeongja-ro, Seongsan-gu, Changwon-si, Gyeongsangnam-do Republic of Korea
TEL : +82-10-3396-7312    FAX : +82-82-55-214-2638   E-mail: acn.journal@gmail.com
About |  Browse Articles |  Current Issue |  For Authors and Reviewers
Copyright © The Korean Society of Clinical Neurophysiology. All right reserved.           Developed in M2PI