title: Cellular pathways of hereditary spastic paraplegia.
abstract: Human voluntary movement is controlled by the pyramidal motor system, a long CNS pathway comprising corticospinal and lower motor neurons. Hereditary spastic paraplegias (HSPs) are a large, genetically diverse group of inherited neurologic disorders characterized by a length-dependent distal axonopathy of the corticospinal tracts, resulting in lower limb spasticity and weakness. A range of studies are converging on alterations in the shaping of organelles, particularly the endoplasmic reticulum, as well as intracellular membrane trafficking and distribution as primary defects underlying the HSPs, with clear relevance for other long axonopathies affecting peripheral nerves and lower motor neurons.
authors.affiliation: Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA. blackstc@ninds.nih.gov
authors.forename: Craig
authors.initials: C
authors.lastname: Blackstone
mesh_terms: D000818:Animals; D019485:Bone Morphogenetic Proteins / Q000235:genetics / Q000502:physiology; D004721:Endoplasmic Reticulum / Q000235:genetics / Q000502:physiology; D006801:Humans; D008959:Models, Neurological; D009413:Nerve Fibers, Myelinated / Q000502:physiology*; D009422:Nervous System Diseases / Q000235:genetics / Q000503:physiopathology; D055495:Neurogenesis / Q000235:genetics / Q000502:physiology; D021381:Protein Transport / Q000235:genetics / Q000502:physiology; D011712:Pyramidal Tracts / Q000254:growth & development / Q000502:physiology*; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics / Q000503:physiopathology*
chemical_list: D019485:Bone Morphogenetic Proteins