Hereditary spastic paraplegia due to NIPA1 gene mutation: Case report

Introduction: Hereditary spastic paraplegia (HSP) is the term for a group of neurological disorders characterized by progressive spasticity and muscle weakness in lower limbs. Its etiology genetic has been associated with mutations more than 60 genes. HSP rare may be useful differential diagnosis cerebral palsy. Case presentation: 16-year-old male due to mutation NIPA1 gene:c.316G>A (p. Gly106arg), which corresponds type 6 (SPG6). The patient presented clinical signs upper motor neuron syndrome limbs, such as spasticity, hyperreflexia paraparesis, focal onset seizures diagnosed at age 11 successfully treated valproic acid. Spasticity treatment was complex included oral baclofen, intraoperative botulinum toxin, physical therapy, multilevel orthopedic surgery management musculoskeletal deformities. Conclusion: This case HSP, epilepsy, gene (SPG6), most common pathogenic variant within this mutation. present demonstrates importance making an early GSP6 perform timely interventions these patients, prevent complications, avoid higher level disability.