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The Capital Region of Denmark - a part of Copenhagen University Hospital
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Hereditary spastic paraplegia caused by the PLP1 'rumpshaker mutation'

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Hereditary spastic paraplegia (HSP) is a group of clinically and genetically heterogeneous neurodegenerative disorders characterised by progressive spasticity and weakness in the lower limbs. Mutations in PLP1 on the X chromosome cause spastic paraplegia type 2 (SPG2) or the allelic Pelizaeus-Merzbacher Disease (PMD). The PLP1 protein is a major myelin protein involved in stabilisation and maintenance of the myelin sheath. The function of the protein has been studied in the rumpshaker mouse, which is a model of SPG2/PMD.
Original languageEnglish
JournalJournal of Neurology, Neurosurgery and Psychiatry
Volume81
Issue number6
Pages (from-to)666-72
Number of pages13
ISSN0022-3050
DOIs
Publication statusPublished - 1 Jun 2010

ID: 31036857