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Updated: Aug 29, 2026

Perspectives on Neuroscience
Published on: July 31, 2007
Synapses and Sisyphus: life without paraplegin
1Department of Neurology and the Center for Aging and Developmental Biology, University of Rochester Medical Center, Rochester, New York 14642, USA. Harris_Gelbard@urmc.rochester.edu
Abstract:
The family of neurodegenerative diseases known as hereditary spastic parapareses have diverse genetic loci, yet there is a remarkable convergence in the neuropathologic and neurologic phenotype. A report describing the construction of a transgenic mouse with a deletion of a nuclear-encoded mitochondrial protein involved in the regulation of oxidative phosphorylation suggests that this family of diseases may reflect activation of a final common pathway involving synaptic dysfunction that progresses to destruction of the presynaptic nerve terminal and axon.
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