Article
Autosomal dominant spastic paraplegias: a review of 89 families resulting from a portuguese survey.
JAMA neurology - 1 Apr 2013
Loureiro José Leal, Brandão Eva, Ruano Luis, Brandão Ana F, Lopes Ana M, Thieleke-Matos Carolina, Miller-Fleming Leonor, Cruz Vitor T, Barbosa Mafalda, Silveira Isabel, Stevanin Giovanni, Pinto-Basto Jorge, Sequeiros Jorge, Alonso Isabel, Coutinho Paula
Abstract excerpt
IMPORTANCE: Hereditary spastic paraplegias (HSPs) are a group of diseases caused by corticospinal tract degeneration. Mutations in 3 genes (SPG4, SPG3, and SPG31) are said to be the cause in half of the autosomal dominant HSPs (AD-HSPs). This study is a systematic review of families with HSP resulting from a population-based survey. Novel genotype-phenotype correlations were established. OBJECTIVE: To describe...
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