Novel CAPN1 mutations extend the phenotypic heterogeneity in combined spastic paraplegia and ataxia.
Lu-Lu LaiYi-Jun ChenYun-Lu LiXiao-Hong LinMeng-Wen WangEn-Lin DongNing WangWan-Jin ChenXiang LinPublished in: Annals of clinical and translational neurology (2020)
Our study supports the clinically heterogeneous inter- and intra-family variability of SPG76 patients, and demonstrates that gender and calpain-1 linker structure may contribute to clinical heterogeneity in SPG76 cases.