Article
The cellular and molecular pathology of the motor system in hereditary spastic paraparesis due to mutation of the spastin gene.
Journal of neuropathology and experimental neurology - 1 Nov 2003
Wharton Stephen B, McDermott Christopher J, Grierson Andrew J, Wood Jonathan D, Gelsthorpe Catherine, Ince Paul G, Shaw Pamela J
Abstract excerpt
Hereditary spastic paraparesis (HSP) is a genetically heterogeneous disorder, the most common cause of which is mutation of the spastin gene. Recent evidence suggests a role for spastin in microtubule dynamics, but the distribution of the protein within the CNS is unknown. The core neuropathology of HSP is distal degeneration of the lateral corticospinal tract and of fasciculus gracilis, but there are few...
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