First mutation in the nuclear localization signal sequence of spastin protein identified in a patient with hereditary spastic paraplegia.

Sir, Spastic paraplegia type 4 (SPG4) is the most common form of hereditary spastic paraplegia (HSP), accounting for approximately 40% of the familial and 6–15% of the sporadic cases 1, 2. The disease is characterized by progressive spasticity and weakness of the lower extremities. Sometimes pes cavus and mild spastic dysarthria may be observed, as well as mental retardation and cerebellar ataxia have been reported 3, 4. The SPG4 phenotype is due to mutations in the SPAST gene encoding for the spastin protein, a member of the AAA family of ATPases associated with a wide variety of cellular activities 5