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KMID : 1044320200220020121
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Annals of Clinical Neurophysiology
2020 Volume.22 No. 2 p.121 ~ p.124
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Hereditary spastic paraplegia with thin corpus callosum due to novel homozygous mutation in SPG11 gene
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Kang Sa-Yoon
Kim Joong-Goo
Oh Jung-Hwan
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Abstract
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The most common form of autosomal recessive hereditary spastic paraplegia (HSP) is caused by mutations in SPG11/KIAA1840 gene, which encodes for spatacsin. The clinical presentation of SPG11 is characterized by cognitive impairment, peripheral neuropathy and a thin corpus callosum in brain magnetic resonance imaging. We identified a novel homozygous nonsense mutation (c.6082C>T [p.Q2028]) in exon 32 of SPG11 in Korean siblings. Our findings suggest that this novel homozygous mutation in SPG11 is associated with HSP and with dysgenesis of the corpus callosum.
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KEYWORD
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Corpus callosum, Hereditary spastic paraplegia, SPG11, Spatacsi
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