Novel SACS mutations in two unrelated Italian patients with spastic ataxia: clinico-diagnostic characterization and results of serial brain MRI studies

Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS) is an early-onset, slowly progressive spastic ataxia associated with axonal-demyelinating polyneuropathy, hypermyelinated retinal fibers, and, sometimes, with an IQ in the lower normal range [1]. MRI studies typically show vermian, cervical, and dorsal spinal cord atrophy, and T2 and FLAIR linear hypointensities in the pons [2]. So far, over 70 mutations in SACS have been described, but the significant clinical variability amongst patients – especially in atypical cases described outside Quebec [1] – limits easy genotype– phenotype correlations. Here, we describe two unrelated ARSACS patients from central Italy carrying two novel mutations in SAC