A case report of hereditary spastic paraplegia type 58

VernacularTitle:遗传性痉挛性截瘫58型1例
Author: Xiaolin YU ¹ ; Yuying ZHAO ; Xinjing ZHAO ; Guoyu ZHOU ; Peiyan SHAN ; Lin MA
Author Information

1. 山东大学齐鲁医院神经内科，济南250012
Keywords: Spastic paraplegia, hereditary; Cerebellar ataxia; Magnetic resonance imaging; KIF1C gene
From: Chinese Journal of Neurology 2022;55(4):353-358
CountryChina
Language:Chinese
Abstract: 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 T 2-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.