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Objective  To clinically, genetically, and radiologically characterize a large cohort of  SPG7  patients.    Methods  We used data from next-generation sequencing panels for ataxias and hereditary spastic paraplegia to identify a characteristic phenotype that helped direct genetic testing for variations in  SPG7 . We analyzed MRI. We reviewed all published  SPG7  mutations for correlations.    Results  We identified 42 cases with biallelic  SPG7  mutations, including 7 novel mutations, including a large multi-exon deletion, representing one of the largest cohorts so far described. We identified a characteristic phenotype comprising cerebellar ataxia with prominent cerebellar dysarthria, mild lower limb spasticity, and a waddling gait, predominantly from a cohort of idiopathic ataxia. We report a rare brain MRI finding of dentate nucleus hyperintensity on T2 sequences with  SPG7  mutations. We confirm that the c.1529C>T allele is frequently present in patients with long-standing British ancestry. Based on the findings of the present study and existing literature, we confirm that patients with homozygous mutations involving the M41 peptidase domain of  SPG7  have a younger age at onset compared to individuals with mutations elsewhere in the gene (14 years difference,  p  < 0.034), whereas c.1529C>T compound heterozygous mutations are associated with a younger age at onset compared to homozygous cases (5.4 years difference,  p  < 0.022).    Conclusions  Mutant  SPG7  is common in sporadic ataxia. In patients with British ancestry, c.1529C>T allele represents the most frequent mutation.  SPG7  mutations can be clinically predicted by the characteristic hybrid spastic-ataxic phenotype described above, along with T2 hyperintensity of the dentate nucleus on MRI.

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