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KMID : 0861220090110020074
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Journal of the Korean Society Clinical Neurophysiology
2009 Volume.11 No. 2 p.74 ~ p.77
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Adult Sandhoff Disease Presenting as Motor Neuron Disease Phenotype
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Ahn Suk-Won
Lee Kwang-Woo
Sung Jung-Joon
Kim Sung-Min
Kim Su-Yeon
Kim Su-Hyun
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Abstract
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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.
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KEYWORD
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Sandhoff disease, Motor neuron disease, GM2 gangliosidosis
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