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

Clinical phenotype and gene mutation analysis on a family of hereditary spastic ataxia type 2

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13c.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。

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.1089 T>G(p.Ile363 Met)of KIF1 C 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 KIF1 C-related SPAX2 may be considered as a candidate diagnosis for adolescent patients with postural tremor,ataxia and hyperreflexia.