SPAG6
SPAG6 Gene: Exploring the Genetics of Hereditary Spastic Paraplegia
Description
The SPAG6 gene, located on chromosome 15, is responsible for encoding the spastin protein. Spastin is a microtubule-severing enzyme crucial for axonal growth, maintenance, and repair. Mutations in the SPAG6 gene disrupt spastin function, leading to a spectrum of neurological conditions known as hereditary spastic paraplegia (HSP).
Associated Diseases
Mutations in the SPAG6 gene cause several HSP subtypes, including:
1. Autosomal Dominant HSP (HSP-AD): This subtype is characterized by progressive leg weakness, spasticity, and muscle stiffness. Onset typically occurs in childhood or adolescence. 2. Autosomal Recessive HSP (HSP-AR): This subtype manifests in infancy or early childhood with severe lower limb weakness and spasticity. Affected individuals may also experience cognitive impairment. 3. Complex HSP (HSP-C): This type combines features of both HSP-AD and HSP-AR. It often exhibits a later onset with a slower progression.
Did you Know ?
About 1 in 100,000 individuals worldwide are affected by HSP caused by SPAG6 mutations.
