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Lookup NU author(s): Dr Janine Tomkins,
Emerita Professor Katherine Bushby,
Professor Pamela Shaw
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Mutations in both the spastin and paraplegin genes have been associated with upper motor neurone degeneration in hereditary spastic paraparesis. The aim of this study was to investigate if mutation in these genes is associated with upper motor neurone degeneration in primary lateral sclerosis (PLS) or selected motor neurone disease (MND) cases. DNA was extracted from-whole blood and screened using single stranded conformation polymorphism and heteroduplex analysis. No mutation in the spastin or paraplegin genes was identified in the PLS or MND cases. Polymorphism was identified in the paraplegin gene but no association was shown with PLS or MND. We therefore conclude that mutation in spastin and paraplegin genes does not appear to cause PLS or MND.
Author(s): McDermott CJ, Roberts D, Tomkins J, Bushby KM, Shaw PJ
Publication type: Article
Publication status: Published
Journal: Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders
Print publication date: 01/06/2003
ISSN (print): 1466-0822
Publisher: Informa Healthcare
PubMed id: 14506940
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