SPASTIN AND SPASTIC PARAPLEGIA
More than 40% of all cases of hereditary spastic paraplegia, a disorder that causes weakness of the lower limbs and axonal degeneration, are associated with mutation in one gene called spastin.
Trotta and his colleagues (The hereditary spastic paraplegia gene, spastin, regulates microtubule stability to modulate synaptic structure and function. Current Biology 14, 1135-1147, 2004) found that spastin mutation lead to defects in neurotransmission by affecting microtubule functions. The research shows that spastin is enriched at the synapse and controls synaptic transmission by regulating microtubule assembly.
The authors hypothesize that defects in microtubule stability are the primary cause of the disease.