Spastic paraplegia type 76 due to novel CAPN1 mutations: three case reports with literature review

In this study, we identified three cases with SPG76, due to four variousCAPN1 mutations, presenting lower limb spasticity and ataxia, with or without bulbar involvement and emotional disorder. Among these, c.213dupG and c.1324G>A are first identified in this paper. The genotype-phenotype correlation of the SPG76 cases reported worldwide was further summarized.
Source: Neurogenetics - Category: Genetics & Stem Cells Source Type: research