Neurology
HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
QUICK SEARCH:   [advanced]


     

This Article
Right arrow Figures Only
Right arrow Full Text
Right arrow Full Text (PDF)
Right arrow Correspondence:
Submit a response
Right arrow Alert me when this article is cited
Right arrow Alert me when Correspondence are posted
Right arrow Alert me if a correction is posted
Right arrow Citation Map
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Download to citation manager
Right arrow reprints & permissions
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Chinnery, P. F.
Right arrow Articles by Dalton, A.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Chinnery, P. F.
Right arrow Articles by Dalton, A.
Related Collections
Right arrow Spastic paraplegia
Right arrow All Spinal Cord
Right arrow All Genetics
Right arrowRelated Article
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]



This article has been cited by other articles:


Home page
 Hum Mol GenetHome page
J. D. Wood, J. A. Landers, M. Bingley, C. J. McDermott, V. Thomas-McArthur, L. J. Gleadall, P. J. Shaw, and V. T. Cunliffe
The microtubule-severing protein Spastin is essential for axon outgrowth in the zebrafish embryo
Hum. Mol. Genet., September 15, 2006; 15(18): 2763 - 2771.
[Abstract] [Full Text] [PDF]

Home page
 NeurologyHome page
C. J. McDermott, C. E. Burness, J. Kirby, L. E. Cox, D. G. Rao, C. Hewamadduma, B. Sharrack, M. Hadjivassiliou, P. F. Chinnery, A. Dalton, et al.
Clinical features of hereditary spastic paraplegia due to spastin mutation.
Neurology, July 11, 2006; 67(1): 45 - 51.
[Abstract] [Full Text] [PDF]

Home page
 J. Med. Genet.Home page
C Depienne, C Tallaksen, J Y Lephay, B Bricka, S Poea-Guyon, B Fontaine, P Labauge, A Brice, and A Durr
Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from that observed in familial cases
J. Med. Genet., March 1, 2006; 43(3): 259 - 265.
[Abstract] [Full Text] [PDF]


HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
Copyright © 2004 by AAN Enterprises, Inc.