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.
Keywords: ataxia; dystonia; movement disorders; parkinsonism; spastic paraplegia type 7; tremor.
© 2022 International Parkinson and Movement Disorder Society.