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Neurogenetics
Published in: neurogenetics 2/2006

01-05-2006 | Letter to the Editors

A founder effect and mutational hot spots may contribute to the most frequent mutations in the SPG3A gene

Authors: Michito Namekawa, Isabelle Nelson, Pascale Ribai, Alexandra Dürr, Elodie Denis, Giovanni Stevanin, Merle Ruberg, Alexis Brice

Published in: Neurogenetics | Issue 2/2006

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Excerpt

Sirs, …
Appendix
Available only for authorised users
Literature
1.
Namekawa M, Ribai P, Forlani S, Fellmann F, Goizet C, Depienne C, Stevanin G, Ruberg M, Dürr A, Brice A (2006) SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age ten. Neurology 66:112-114PubMedCrossRef
2.
Dürr A, Camuzat A, Colin E, Tallaksen C, Hannequin D, Coutinho P, Fontaine B, Rossi A, Gil R, Rousselle C, Ruberg M, Stevanin G, Brice A (2004) Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia. Arch Neurol 61:1867-1872PubMedCrossRef
3.
Bouslam N, Benomar A, Azzedine H, Bouhouche A, Namekawa M, Klebe S, Charon C, Dürr A, Ruberg M, Brice A, Yahyaoui M, Stevanin G (2005) Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28). Ann Neurol 57:567-571PubMedCrossRef
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Antonarakis SE, Krawczak M, Cooper DN (2001) The nature and mechanisms of human gene mutation. In: Scriver CR, Beaudet AL, Valle D, Sly WS (eds) The metabolic and molecular bases of inherited disease, 8th edn. McGraw-Hill, New York, pp 259-291
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Clark SJ, Harrison J, Paul CL, Frommer M (1994) High sensitivity mapping of methylated cytosines. Nucleic Acids Res 22:2990-2997PubMedCrossRef
Metadata
Title
A founder effect and mutational hot spots may contribute to the most frequent mutations in the SPG3A gene
Authors
Michito Namekawa
Isabelle Nelson
Pascale Ribai
Alexandra Dürr
Elodie Denis
Giovanni Stevanin
Merle Ruberg
Alexis Brice
Publication date
01-05-2006
Publisher
Springer-Verlag
Published in
Neurogenetics / Issue 2/2006
Print ISSN: 1364-6745
Electronic ISSN: 1364-6753
DOI
https://doi.org/10.1007/s10048-006-0028-2

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