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Hereditary spastic paraplegia with thin corpus callosum due to novel homozygous mutation in SPG11 gene

Annals of Clinical Neurophysiology 2020년 22권 2호 p.121 ~ 124
강사윤, 김중구, 오정환,
소속 상세정보
강사윤 ( Kang Sa-Yoon ) - Jeju National University School of Medicine Department of Neurology
김중구 ( Kim Joong-Goo ) - Jeju National University School of Medicine Department of Neurology
오정환 ( Oh Jung-Hwan ) - Jeju National University School of Medicine Department of Neurology

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.

키워드

Corpus callosum; Hereditary spastic paraplegia; SPG11; Spatacsi

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