title: Molecular aspects of hereditary spastic paraplegia.
abstract: Hereditary spastic paraplegia (HSP) is a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by progressive lower limbs spasticity and weakness. What was first thought to be a small group of rare Mendelian disorder has now become a large group that includes many complex syndromes. While large families with defined modes of inheritance were used for the initial HSP gene discovery, new sequencing technologies have recently allowed the study of small families, with the identification of many new disease causative genes. These discoveries are slowly leading to a better understanding of the molecular mechanisms underlying HSP with the identification of precise disease pathways. These insights may lead to new therapeutic strategies for what is a group of largely untreatable diseases. This review looks at the key players involved in HSP and where they act in their specific pathways.
authors.affiliation: Montreal Neurological Institute and Hospital, Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada; Université de Montréal, Department of Pathology and Cellular Biology, Montreal, Quebec, Canada.
authors.forename: Anne
authors.initials: A
authors.lastname: Noreau
authors.affiliation: Montreal Neurological Institute and Hospital, Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada; Université de Montréal, Department of Pathology and Cellular Biology, Montreal, Quebec, Canada.
authors.forename: Patrick A
authors.initials: PA
authors.lastname: Dion
authors.affiliation: Montreal Neurological Institute and Hospital, Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada. Electronic address: guy.rouleau@mcgill.ca.
authors.forename: Guy A
authors.initials: GA
authors.lastname: Rouleau
mesh_terms: D000818:Animals; D001692:Biological Transport; D004721:Endoplasmic Reticulum / Q000502:physiology; D011992:Endosomes / Q000502:physiology; D020022:Genetic Predisposition to Disease; D006801:Humans; D050356:Lipid Metabolism; D008928:Mitochondria / Q000502:physiology; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics* / Q000378:metabolism / Q000473:pathology
keywords: Hereditary spastic paraplegia; Motor neuron; Neurogenetics; Pathways; Spasticity