Beschreibung:
<jats:title>Abstract</jats:title><jats:sec><jats:title>Background</jats:title><jats:p>Spastic paraplegia type 7 (SPG7) mutations can present either as a pure form or a complex phenotype with movement disorders.</jats:p></jats:sec><jats:sec><jats:title>Objective</jats:title><jats:p>Describe the main features of subjects with SPG7 mutations associated with movement disorders.</jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p>We analyzed the clinical and paraclinical information of subjects with SPG7 mutations associated with movement disorders.</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>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).</jats:p></jats:sec><jats:sec><jats:title>Conclusion</jats:title><jats:p>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.</jats:p></jats:sec>