title: Synapses and Sisyphus: life without paraplegin.
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.
authors.affiliation: Department 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
authors.forename: Harris A
authors.initials: HA
authors.lastname: Gelbard
mesh_terms: D000074183:ATPases Associated with Diverse Cellular Activities; D000818:Animals; D002467:Cell Nucleus / Q000378:metabolism; D017353:Gene Deletion; D006801:Humans; D008564:Membrane Potentials; D008666:Metalloendopeptidases / Q000235:genetics / Q000502:physiology*; D051379:Mice; D008822:Mice, Transgenic; D008928:Mitochondria / Q000378:metabolism; D008954:Models, Biological; D018384:Oxidative Stress; D010100:Oxygen / Q000378:metabolism; D010641:Phenotype; D010766:Phosphorylation; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics; D013569:Synapses / Q000502:physiology*
chemical_list: D008666:Metalloendopeptidases; C112889:SPG7 protein, human; C491813:Spg7 protein, mouse; D000074183:ATPases Associated with Diverse Cellular Activities; D010100:Oxygen