@article{ART002640073,
author={Sa-Yoon Kang and Joong Goo Kim and Jung Hwhan Oh},
title={Hereditary spastic paraplegia with thin corpus callosum due to novel homozygous mutation in SPG11 gene},
journal={Annals of Clinical Neurophysiology},
issn={2508-691X},
year={2020},
volume={22},
number={2},
pages={121-124},
doi={https://doi.org/10.14253/acn.2020.22.2.121}
}

TY - JOUR
AU - Sa-Yoon Kang
AU - Joong Goo Kim
AU - Jung Hwhan Oh
TI - Hereditary spastic paraplegia with thin corpus callosum due to novel homozygous mutation in SPG11 gene
T2 - Annals of Clinical Neurophysiology
JO - Annals of Clinical Neurophysiology
PY - 2020
VL - 22
IS - 2
PB - 대한임상신경생리학회
SP - 121
EP - 124
SN - 2508-691X
AB - 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.
KW - Corpus callosum, Hereditary spastic paraplegia, SPG11, Spatacsi
DO - https://doi.org/10.14253/acn.2020.22.2.121
ER -

Sa-Yoon Kang, Joong Goo Kim and Jung Hwhan Oh. 2020, "Hereditary spastic paraplegia with thin corpus callosum due to novel homozygous mutation in SPG11 gene", Annals of Clinical Neurophysiology, vol.22, no.2 pp.121-124. Available from: doi:https://doi.org/10.14253/acn.2020.22.2.121

Sa-Yoon Kang, Joong Goo Kim, Jung Hwhan Oh "Hereditary spastic paraplegia with thin corpus callosum due to novel homozygous mutation in SPG11 gene" Annals of Clinical Neurophysiology 22.2 pp.121-124 (2020) : 121.

Sa-Yoon Kang, Joong Goo Kim, Jung Hwhan Oh. Hereditary spastic paraplegia with thin corpus callosum due to novel homozygous mutation in SPG11 gene. 2020; 22(2), 121-124. Available from: doi:https://doi.org/10.14253/acn.2020.22.2.121

Sa-Yoon Kang, Joong Goo Kim and Jung Hwhan Oh. "Hereditary spastic paraplegia with thin corpus callosum due to novel homozygous mutation in SPG11 gene" Annals of Clinical Neurophysiology 22, no.2 (2020) : 121-124.doi: https://doi.org/10.14253/acn.2020.22.2.121

Sa-Yoon Kang; Joong Goo Kim; Jung Hwhan Oh. Hereditary spastic paraplegia with thin corpus callosum due to novel homozygous mutation in SPG11 gene. Annals of Clinical Neurophysiology, 22(2), 121-124. doi: https://doi.org/10.14253/acn.2020.22.2.121

Sa-Yoon Kang; Joong Goo Kim; Jung Hwhan Oh. Hereditary spastic paraplegia with thin corpus callosum due to novel homozygous mutation in SPG11 gene. Annals of Clinical Neurophysiology. 2020; 22(2) 121-124. doi: https://doi.org/10.14253/acn.2020.22.2.121

Sa-Yoon Kang, Joong Goo Kim, Jung Hwhan Oh. Hereditary spastic paraplegia with thin corpus callosum due to novel homozygous mutation in SPG11 gene. 2020; 22(2), 121-124. Available from: doi:https://doi.org/10.14253/acn.2020.22.2.121

Sa-Yoon Kang, Joong Goo Kim and Jung Hwhan Oh. "Hereditary spastic paraplegia with thin corpus callosum due to novel homozygous mutation in SPG11 gene" Annals of Clinical Neurophysiology 22, no.2 (2020) : 121-124.doi: https://doi.org/10.14253/acn.2020.22.2.121