Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy

Hereditary Ataxias are heterogeneous groups of neurodegenerative disorders, characterized by cerebellar syndrome associated with dysarthria, oculomotor and corticospinal signs, neuropathy and cognitive impairment. Recent reports suggested mutations in the SPG7 gene, causing the most common form of autosomal recessive spastic paraplegia (MIM#607259), as a main cause of ataxias. The majority of described patients, were homozygotes or compound heterozygotes for the c.1529C>T (p.Ala510Val) change. We screened a cohort of 895 Italian ataxic patients for the p.Ala510Val in order to define the prevalence and genotype - phenotype correlation of this variant.