Hereditary Spastic Paraparesis Type 55: A Case Report

Hereditary Spastic Paraparesis Type 55: A Case Report Introduction: Hereditary spastic paraparesis is a large group of neurodegenerative diseases that result from primary retrograde dysfunction of the corticospinal system. C12orf65 gene mutations that cause hereditary spastic paraparesis type 55 have been associated with early-onset optic atrophy, progressive encephalomyopathy, peripheral neuropathy, and spastic paraparesis. Case: A 7-year-old boy born to healthy consanguineous parents was admitted with decrease in visual acuity, gait disturbance, and cognitive decline that started four years ago and progressively increased. Optic atrophy, pes cavus, foot drop, increase in lower extremity deep tendon reflexes, and atrophy in distal lower limbs were observed. The patient who was found to have a homozygous frameshift mutation in the C12orf65 gene in whole-exome sequence analysis was diagnosed with hereditary spastic paraparesis type 55(SPG55). His parents were carriers for this mutation. Conclusion: C12orf65 gene mutation should be kept in mind in the differential diagnosis of spastic paraparesis and progressive acquired optic atrophy.
Keywords: Hereditary Spastic Paraparesis, C12orf65 gene