Mitsutake Akihiko, Kawai Mizuho, Orimo Kenta, Matsukawa Takashi, Ishiura Hiroyuki, Mitsui Jun, Nakajima Hideki, Murai Hiroyuki, Tsuji Shoji, Goto Jun, Iwata Nobue K
Department of Neurology, International University of Health and Welfare Mita Hospital, Mita 1-4-3, Minato-ku, Tokyo, 108-8329, Japan.
Department of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
Cerebellum. 2024 Dec 28;24(1):20. doi: 10.1007/s12311-024-01782-y.
Variants in KIF1A are associated with hereditary spastic paraplegia (SPG30), which can manifest in both pure and complex forms. We describe a Japanese family with a novel KIF1A variant presenting with a complex form of SPG30. Patient 1, a 69-year-old woman, experienced progressive gait disturbance due to spastic paraparesis and cerebellar atrophy, and intellectual disability. Patient 2, the daughter of Patient 1, exhibited similar symptoms with more severe dysarthria. Patients 1 and 2 shared a heterozygous c.173 C > G (p.Ser58Trp) variant in the motor domain of KIF1A (NM_001244008.2), which is classified as likely pathogenic. This family highlights the role of autosomal dominant inheritance in a complex form of SPG30, expanding the understanding of its genetic basis and clinical presentation.
KIF1A基因的变异与遗传性痉挛性截瘫（SPG30）相关，该病可表现为单纯型和复杂型。我们描述了一个日本家庭，其携带一种新型KIF1A变异，表现为复杂型SPG30。患者1是一名69岁女性，因痉挛性截瘫、小脑萎缩和智力残疾而出现进行性步态障碍。患者2是患者1的女儿，表现出类似症状，且构音障碍更严重。患者1和患者2在KIF1A（NM_001244008.2）的运动结构域共享一个杂合的c.173 C＞G（p.Ser58Trp）变异，该变异被分类为可能致病。这个家庭突出了常染色体显性遗传在复杂型SPG30中的作用，扩展了对其遗传基础和临床表现的认识。
