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Infantile hereditary spastic paraparesis due to codominant mutations in the spastin gene

Lookup NU author(s): Professor Patrick Chinnery, Sharon Foster, Dr Vankateswara Ramesh

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Abstract

The authors describe an infant with a severe spastic paraparesis caused by two codominant mutations of the spastin gene. This highlights the multiple molecular mechanisms that are likely to be involved in the molecular pathology of SPG4 and illustrates the importance of complete screening of the spastin gene in affected individuals, particularly if the index case has an unusual phenotype.


Publication metadata

Author(s): Chinnery PF, Keers SM, Holden MJ, Ramesh V, Dalton A

Publication type: Article

Publication status: Published

Journal: Neurology

Year: 2004

Volume: 63

Issue: 4

Pages: 710-712

ISSN (print): 0028-3878

ISSN (electronic): 1526-632X

Publisher: Lippincott Williams & Wilkins

URL: http://dx.doi.org/10.1212/01.WNL.0000135346.63675.3E

DOI: 10.1212/01.WNL.0000135346.63675.3E

PubMed id: 15326248


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