A novel de novo disease‐causing variant in ATL1 in a pediatric patient with spastic paraplegia.

This article discusses a case study of a pediatric patient with spastic paraplegia, a neurodegenerative disorder characterized by weakness and spasticity in the lower extremities. The patient had no family history of the condition and was initially diagnosed with cerebral palsy. However, further genetic analysis revealed a novel disease-causing variant in the ATL1 gene, which is associated with hereditary spastic paraplegia. This finding highlights the importance of accurate molecular diagnosis for prognosis estimation, patient management, and genetic counseling. [Extracted from the article]