CAPN1 Variants as Cause of Hereditary Spastic Paraplegia Type 76

الملخص EN

Background.

Autosomal recessive hereditary spastic paraplegias (HSP) are a rare group of hereditary neurodegenerative disorders characterized by spasticity with or without other symptoms.

SPG11 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 CAPN1 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 CAPN1.

Conclusions.

Clinicians should screen for CAPN1 mutation in a young female patient without significant family history with a spastic paraplegia syndrome associated with other symptoms.