Variants as Cause of Hereditary Spastic Paraplegia Type 76.

Background: Autosomal recessive hereditary spastic paraplegias (HSP) are a rare group of hereditary neurodegenerative disorders characterized by spasticity with or without other symptoms. gene is the most common cause of autosomal recessive HSP. We report a case of autosomal recessive spastic paraplegia type 76 due to heterozygous variants of in an Argentinean subject.

Case Presentation: A 38-year-old Argentinean female presented with progressive gait problems and instability of 15-year duration. Oculomotor abnormalities, ataxia, bradykinesia, cervical dystonia, and lower limb pyramidal signs were observed. Brain MRI was unremarkable. Whole-exome sequencing analysis identified two heterozygous variants in .

Conclusions: Clinicians should screen for mutation in a young female patient without significant family history with a spastic paraplegia syndrome associated with other symptoms.