Autosomal dominant spastic paraplegias: a review of 89 families resulting from a portuguese survey.

摘要: Importance Hereditary spastic paraplegias (HSPs) are a group of diseases caused by corticospinal tract degeneration. Mutations in 3 genes (SPG4, SPG3, and SPG31) said to be the cause half autosomal dominant HSPs (AD-HSPs). This study is systematic review families with HSP resulting from population-based survey. Novel genotype-phenotype correlations were established. Objective To describe clinical, genetic, epidemiological features Portuguese AD-HSP families. Design Retrospective medical record review. Setting A survey hereditary ataxias conducted Portugal 1993 2004. Participants Families AD-HSP. Main Outcome Measure Mutation detection most prevalent genes. Results We identified 239 patients belonging 89 The prevalence was 2.4 100 000. Thirty-one distinct mutations (26 SPG4, 4 1 segregated 41% (33.7%, 6.2%, 1.2% had SPG3 SPG31 mutations, respectively). Seven SPG4 novel, 7% all deletions. When disease onset before first decade, 31% 27% mutations. In those large deletions earliest onset, followed missense, frameshift, nonsense, alternative-splicing Rate progression not significantly different among multivariate analysis. For worst later-onset disease. Conclusions Relevance frequency current similar what has been described other studies except that lower. contrast, rare compared studies. interesting aspects this even early-onset probability finding mutation higher than for mutations; there no difference genotype but an association age at onset; 7 new identified; time, our knowledge, nature found predict onset.