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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.
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
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