Clinical and genetic characterization of NIPA1 mutations in a Taiwanese cohort with hereditary spastic paraplegia.
Shih-Yu FangYing-Tsen ChouKuo-Chou HsuShao-Lun HsuKai-Wei YuYu-Shuen TsaiYi-Chu LiaoPei-Chien TsaiYi-Chung LeePublished in: Annals of clinical and translational neurology (2023)
SPG6 accounted for 0.8% of HSP cases in the Taiwanese cohort. The NIPA1 c.316G>A and c.316G>C mutations are associated with adolescent-onset complex and pure form HSP, respectively. The different effects on protein expression of the two mutations may be associated with their phenotypic discrepancy.