Please use this identifier to cite or link to this item: https://doi.org/10.1080/1521654032000114311
DC FieldValue
dc.titleHereditary spastic paraplegia: Clues from a rare disorder for a common problem?
dc.contributor.authorBurgunder, J.-M.
dc.contributor.authorHunziker, W.
dc.date.accessioned2016-11-29T01:22:44Z
dc.date.available2016-11-29T01:22:44Z
dc.date.issued2003-06-01
dc.identifier.citationBurgunder, J.-M., Hunziker, W. (2003-06-01). Hereditary spastic paraplegia: Clues from a rare disorder for a common problem?. IUBMB Life 55 (6) : 347-352. ScholarBank@NUS Repository. https://doi.org/10.1080/1521654032000114311
dc.identifier.issn15216543
dc.identifier.urihttp://scholarbank.nus.edu.sg/handle/10635/131788
dc.description.abstractHereditary spastic paraplegia is a rare disorder with gait disturbance due to a degeneration of the corticospinal tract, sometimes accompanied by involvement of other systems. Out of the 20 loci known so far, eight genes have now been identified, allowing the first molecular and cell studies in the pathophysiology of the disorder. These should also help to understand the function of the corticospinal tract at the molecular level and design strategies to prevent and treat spasticity due to more common causes. The proteins encoded by these genes play a role in development, in signal transduction between axons and myelinating cells, in cellular, particularly axonal trafficking or in energy metabolism. Some of them have actions in several areas of cellular function. Here we review the present knowledge about the genes involved in hereditary spastic paraplegia, a field presently undergoing rapid change.
dc.description.urihttp://libproxy1.nus.edu.sg/login?url=http://dx.doi.org/10.1080/1521654032000114311
dc.sourceScopus
dc.subjectAtlastin
dc.subjectHereditary spastic paraplegia
dc.subjectL1-CAM
dc.subjectPLP1
dc.subjectSpartin
dc.subjectSpastin
dc.typeReview
dc.contributor.departmentMEDICINE
dc.contributor.departmentPHYSIOLOGY
dc.description.doi10.1080/1521654032000114311
dc.description.sourcetitleIUBMB Life
dc.description.volume55
dc.description.issue6
dc.description.page347-352
dc.description.codenIULIF
dc.identifier.isiut000184460000009
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