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Spastin and paraplegin gene analysis in selected cases of motor neurone disease (MND)

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.

Publication metadata

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

Year: 2003

Volume: 4

Issue: 2

Pages: 96-99

Print publication date: 01/06/2003

ISSN (print): 1466-0822

ISSN (electronic):

Publisher: Informa Healthcare


DOI: 10.1080/14660820301184

PubMed id: 14506940


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