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NEUROLOGY 2004;63:710-712
© 2004 American Academy of Neurology
Brief Communications

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

P. F. Chinnery, PhD MRCP, S. M. Keers, BSc, M. J. Holden, BSc, V. Ramesh, FRCP and A. Dalton, PhD

From the Department of Neurology (Dr. Chinnery and S.M. Keers), The University of Newcastle upon Tyne, UK; Department of Paediatric Neurology (Dr. Ramesh), Newcastle General Hospital, Newcastle upon Tyne, UK; and North Trent Molecular Genetics Service (Dr. Dalton, M.J. Holden), Sheffield Children’s NHS Trust, UK.

Address correspondence and reprint requests to Dr. P.F. Chinnery, Department of Neurology, The Medical School, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK; e-mail: P.F.Chinnery{at}ncl.ac.uk

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.

Received March 2, 2004. Accepted in final form May 26, 2004.

See Commentary, page 603


Related Article

August 24 Highlight and Commentary
Neurology 2004 63: 603. [Full Text] [PDF]





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