遗传性痉挛性截瘫58型1例  

A case report of hereditary spastic paraplegia type 58

作　　者：于晓琳[1] 赵玉英[1] 赵新静[1] 周国钰[1] 单培彦[1] 麻琳[1] Yu Xiaolin;Zhao Yuying;Zhao Xinjing;Zhou Guoyu;Shan Peiyan;Ma Lin(Department of Neurology,Qilu Hospital,Shandong University,Jinan 250012,China)

机构地区：[1]山东大学齐鲁医院神经内科,济南250012

出　　处：《中华神经科杂志》2022年第4期353-358,共6页Chinese Journal of Neurology

摘　　要：遗传性痉挛性截瘫58型是由KIF1C基因突变所致的罕见遗传病。本文报道1例我院收治的病例,以提高临床医师对该病的认识。患者为15岁女性,以震颤、小脑性共济失调、痉挛性截瘫为主要临床表现,颅脑磁共振成像可见双侧对称性锥体束受累,全外显子测序发现KIF1C基因未曾报道过的c.425_426delTG(p.V142Gfs*10)纯合突变,经预测为致病性变异。Hereditary spastic paraplegia type 58 is rare,caused by pathogenic variations in KIF1C gene.Here,a case diagnosed in Qilu Hospital,Shandong University,was reported.The 15-year-old female suffered tremor in bilateral upper limbs which was aggravated gradually since age 8.Cerebellar ataxia,positive pyramidal tract sign and dystonic tremor were prominent on physical examination.The brain magnetic resonance imaging showed T2-hyperintense signals in bilateral pyramidal tracts,optic radiations and superior cerebellar peduncles,with mild cerebellar atrophy.Whole exon sequencing revealed the unreported homozygous c.425_426delTG(p.V142Gfs*10)mutation which was presumed pathogenic.

关 键 词：痉挛性截瘫 遗传性 小脑共济失调 磁共振成像 KIF1C基因 

分 类 号：R742.3[医药卫生—神经病学与精神病学]