Abstract
Molon et al. compared RNA expression profiles in clinically unaffected muscle of patients with hereditary spastic paraplegia (SPG-4 linked) vs normal muscle. They found evidence of disruption of microtubule pathways. They suggest that the study of unaffected tissue may provide important insights into the pathophysiology of neurologic disease. see page 1097 Commentary by Peter Hedera, MD SPG4 is caused by mutations in the SPAST (SPG4) gene, encoding spastin. The normal function of spastin remains poorly understood, even though the analysis of functional domains has suggested several possible roles. Spastin is a member of a diverse AAA (ATPases Associated with various cellular Activities) superfamily of proteins, characterized by the presence of …
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