Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7.

Objective We took advantage of a large multinational recruitment to delineate genotype-phenotype correlations in a large, trans-European multicenter cohort of patients with spastic paraplegia gene 7 ( SPG7 ). Methods We analyzed clinical and genetic data from 241 patients with SPG7 , integrating neurologic follow-up data. One case was examined neuropathologically. Results Patients with SPG7 had a mean age of 35.5 ± 14.3 years (n = 233) at onset and presented with spasticity (n = 89), ataxia (n = 74), or both (n = 45). At the first visit, patients with a longer disease duration (>20 years, n = 62) showed more cerebellar dysarthria ( p p p p p p p p p p Conclusions This is the largest SPG7 cohort study to date and shows a spasticity-predominant phenotype of LOF variants and more frequent cerebellar ataxia and later onset in patients carrying at least 1 Ala510Val variant.