Background information
Atlastins are Golgi-localized, integral membrane proteins that function as GTPases. The Atlastin proteins, also designated SPG3A and guanylate-binding protein 3, comprise a Dynamin superfamily that plays a role in axonal maintenance. Hereditary spastic paraplegia (HSP) is an inherited neurodegenerative disorder that is characterized by retrograde axonal degeneration. HSP primarily affects long corticospinal neurons and causes spastic lower extremity weakness. Spastin, a microtubule (MT)-severing AAA ATPase, is a binding partner of Atlastin that is involved in membrane dynamics. This Spastin/Atlastin binding may be involved in the biochemical pathway that leads to HSP development. Mutations in the Atlastin gene (SPG3A) account for approximately 10% of all autosomal dominant HSPs, while mutations in the Spastin gene (SPG4) account for almost 40%.
