Spastic Paraplegia Type 7 and Movement Disorders: Beyond the Spastic Paraplegia

Background Spastic paraplegia type 7 (SPG7) mutations can present either as a pure form or a complex phenotype with movement disorders. Objective Describe the main features of subjects with SPG7 mutations associated with movement disorders. Methods We analyzed the clinical and paraclinical information of subjects with SPG7 mutations associated with movement disorders. Results Sixteen affected subjects from 11 families were identified. Male sex predominated (10 of 16) and the mean age at onset was 41.25 +/- 16.1 years. A cerebellar syndrome was the most frequent clinical movement disorder phenotype (7 of 16); however, parkinsonism (2 of 16), dystonia (1 of 16), and mixed phenotypes between them were also seen. The "ears of the lynx" sign was found in four subjects. A total of nine SPG7 variants were found, of which the most frequent was the c.1529C > T (p.Ala510Val). Conclusion This case series expands the motor phenotype associated with SPG7 mutations. Clinicians must consider this entity in single or familial cases with combined movement disorders.