摘要：
目的 总结 1 例常染色体隐性遗传性痉挛性共济失调 2 型（SPAX2 型）患者临床表型和基因型特点，以期提高临床医师对疾病的认识。方法与结果 男性患者，35 岁。临床以姿势性震颤、共济失调、腱反射亢进为主要表现，呈缓慢进展病程。Sanger 测序显示，患者存在 KIF1C 基因外显子 13 c.1089T > G（p.Ile363Met）纯合错义突变，分别来自其父母，符合常染色体隐性遗传规律，患者确诊为SPAX2 型，该家系证实为 SPAX2 型家系。结论 对于青少年期发病，临床表现为姿势性震颤、共济失调、腱反射亢进等症状的患者，应考虑 KIF1C 基因相关SPAX2型的可能。
关键词:
痉挛性截瘫, 遗传性,
共济失调,
震颤,
基因,
突变,
纯合子,
系谱
Abstract:
Objective To investigate the clinical phenotype and genotype manifestations of autosomal recessive hereditary spastic ataxia 2 (SPAX2), to help physicians recognize this disease. Methods and Results A 35-year-old male patient presented with postural tremors, ataxia, hyperreflexia and then got worse progressively. Sanger sequencing found a homozygous missense mutation in the exon 13 c.1089T > G (p.Ile363Met) of KIF1C gene. It came from his parents respectively and was consistent with the autosomal recessive genetic law. The patient was clearly diagnosed as SPAX2, and his family was diagnosed as SPAX2 pedigree. Conclusions KIF1C-related SPAX2 may be considered as a candidate diagnosis for adolescent patients with postural tremor, ataxia and hyperreflexia.
Key words:
Spastic paraplegia, hereditary,
Ataxia,
Tremor,
Genes,
Mutation,
Homozygote,
Pedigree
李争运, 顾卫红, 张瑾, 丁铭. 遗传性痉挛性共济失调2型一家系临床表型及基因突变分析[J]. 中国现代神经疾病杂志, 2019, 19(6): 419-422.
LI Zheng-yun, GU Wei-hong, ZHANG Jin, DING Ming. Clinical phenotype and gene mutation analysis on a family of hereditary spastic ataxia type 2[J]. Chinese Journal of Contemporary Neurology and Neurosurgery, 2019, 19(6): 419-422.