Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy.
C ManciniE GiorgioA RubegniL PradottoS BagnoliE RubinoP PronteraS CavalieriE Di GregorioM FerreroE PozziE RiberiP FerreroP NigroA MauroMaurizio ZibettiA TessaM BarghigianiA AntenoraF SirchiaS PiacentiniGabriella SilvestriG De MicheleA FillaL OrsiF M SantorelliAlfredo BruscoPublished in: European journal of neurology (2018)
The SPG7 c.1529C>T (p.Ala510Val) mutants accounted for 2.3% of cerebellar ataxia cases in Italy, suggesting that this variant should be considered as a priority test in the presence of late-onset pure ataxia. Moreover, the heterozygous/homozygous genotype appeared to predict the onset of clinical manifestation and disease progression.
Keyphrases