Annals of Clinical Neurophysiology

The Korean Society of Clinical Neurophysiology (대한임상신경생리학회)
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Hereditary spastic paraplegia with thin corpus callosum due to novel homozygous mutation in SPG11 gene

  • Kang, Sa-Yoon (Department of Neurology, Jeju National University School of Medicine) ;
  • Kim, Joong Goo (Department of Neurology, Jeju National University School of Medicine) ;
  • Oh, Jung Hwhan (Department of Neurology, Jeju National University School of Medicine)
  • Received : 2020.08.11
  • Accepted : 2020.09.15
  • Published : 2020.10.31
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Abstract

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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References

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