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August 23, 2004

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

August 24, 2004 issue
63 (4) 710-712

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.

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References

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Information & Authors

Information

Published In

Neurology®
Volume 63Number 4August 24, 2004
Pages: 710-712
PubMed: 15326248

Publication History

Received: March 2, 2004
Accepted: May 26, 2004
Published online: August 23, 2004
Published in print: August 24, 2004

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Authors

Affiliations & Disclosures

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

Notes

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: [email protected]

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Cited By
  1. Spastin recovery in hereditary spastic paraplegia by preventing neddylation-dependent degradation, Life Science Alliance, 3, 12, (e202000799), (2020).https://doi.org/10.26508/lsa.202000799
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  2. A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies, Brain, 140, 6, (1579-1594), (2017).https://doi.org/10.1093/brain/awx081
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  3. Genetic background of the hereditary spastic paraplegia phenotypes in Hungary — An analysis of 58 probands, Journal of the Neurological Sciences, 364, (116-121), (2016).https://doi.org/10.1016/j.jns.2016.03.018
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  4. Hereditary spastic paraplegia SPG4: what is known and not known about the disease, Brain, 138, 9, (2471-2484), (2015).https://doi.org/10.1093/brain/awv178
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  5. Hereditary spastic paraplegias, Pediatric Neurology Part III, (1899-1912), (2013).https://doi.org/10.1016/B978-0-444-59565-2.00060-5
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  6. Loss of Drosophila melanogaster p21-activated kinase 3 Suppresses Defects in Synapse Structure and Function Caused by spastin Mutations , Genetics, 189, 1, (123-135), (2011).https://doi.org/10.1534/genetics.111.130831
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  7. Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia, BMC Neurology, 10, 1, (2010).https://doi.org/10.1186/1471-2377-10-89
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  8. Evaluating the effect of spastin splice mutations by quantitative allele‐specific expression assay, European Journal of Neurology, 18, 1, (99-105), (2010).https://doi.org/10.1111/j.1468-1331.2010.03079.x
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  9. Functional conservation of human Spastin in a Drosophila model of autosomal dominant-hereditary spastic paraplegia, Human Molecular Genetics, 19, 10, (1883-1896), (2010).https://doi.org/10.1093/hmg/ddq064
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  10. Partial SPAST and DPY30 deletions in a Japanese spastic paraplegia type 4 family, neurogenetics, 12, 1, (25-31), (2010).https://doi.org/10.1007/s10048-010-0260-7
    Crossref
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