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KMID : 1044320200220010033
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Annals of Clinical Neurophysiology
2020 Volume.22 No. 1 p.33 ~ p.36
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Likely pathogenic FIG4 related amyotrophic lateral sclerosis patient who correlated with clinical, imaging and neuropsychological studies
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Ko Pan-Woo
Min Yu-Sun
Park Jin-Sung
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Abstract
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Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder with numerous causes that include genetic factors. Efforts to reveal the genetics of ALS have identified several candidate genes that are associated with familial and sporadic ALS. Here we report a Korean ALS patient who showed prominent upper motor-neuron-related symptoms with marked brain atrophy and neuropsychological deficits. The findings were highly suggestive of ALS in a patient with a likely pathogenic FIG4 variant.
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KEYWORD
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Amyotrophic lateral sclerosis, Atypical, Brain, Gene
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