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<p>Spastic paraplegia (SPG)10 is an autosomal dominant SPG caused by kinesin family member 5A (<i>KIF5A</i>) gene variants. We describe a Japanese patient with SPG whose deceased mother and maternal uncle also exhibited SPG. Exome analysis identified a rare <i>KIF5A</i> nonsense variant (NM_004984.4:c.2590C&gt;T (p.Arg864Ter)) in the patient, regarded as pathogenic. As <i>KIF5A</i> mRNA expression was significantly decreased compared with that of a healthy control, the variant was deemed causative of SPG.</p>

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A Japanese patient with hereditary spastic paraplegia with a rare KIF5A nonsense variant

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  • 发表日期：

    2025年6月2日

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  • Shiroh Miura,
  • Seria Suenaga,
  • Hana Goto,
  • Zhaonan Wang,
  • Akane Makino,
  • Luoming Fan,
  • Kensuke Senzaki,
  • Masayuki Ochi,
  • Yasumasa Ohyagi,
  • Hiroki Shibata

摘要

Spastic paraplegia (SPG)10 is an autosomal dominant SPG caused by kinesin family member 5A (KIF5A) gene variants. We describe a Japanese patient with SPG whose deceased mother and maternal uncle also exhibited SPG. Exome analysis identified a rare KIF5A nonsense variant (NM_004984.4:c.2590C>T (p.Arg864Ter)) in the patient, regarded as pathogenic. As KIF5A mRNA expression was significantly decreased compared with that of a healthy control, the variant was deemed causative of SPG.