Novel genotype-phenotype and MRI correlations in a large cohort of patients with <i>SPG7</i> mutations

Abstract

Mutant <i>SPG7</i> is common in sporadic ataxia. In patients with British ancestry, c.1529C>T allele represents the most frequent mutation. <i>SPG7</i> mutations can be clinically predicted by the characteristic hybrid spastic-ataxic phenotype described above, along with T2 hyperintensity of the dentate nucleus on MRI.