A mutation of spastin is responsible for swellings and impairment of transport in a region of axon characterized by changes in microtubule composition
Identifieur interne : 001320 ( Istex/Corpus ); précédent : 001319; suivant : 001321A mutation of spastin is responsible for swellings and impairment of transport in a region of axon characterized by changes in microtubule composition
Auteurs : Anne Tarrade ; Coralie Fassier ; Sabrina Courageot ; Delphine Charvin ; Jrmie Vitte ; Leticia Peris ; Alain Thorel ; Etienne Mouisel ; Nuria Fonknechten ; Natacha Roblot ; Danielle Seilhean ; Andre Dirich ; Jean Jacques Hauw ; Judith MelkiSource :
- Human Molecular Genetics [ 0964-6906 ] ; 2006-12-15.
Abstract
Mutations of the spastin gene (Sp) are responsible for the most frequent autosomal dominant form of spastic paraplegia, a disease characterized by the degeneration of corticospinal tracts. We show that a deletion in the mouse Sp gene, generating a premature stop codon, is responsible for progressive axonal degeneration, restricted to the central nervous system, leading to a late and mild motor defect. The degenerative process is characterized by focal axonal swellings, associated with abnormal accumulation of organelles and cytoskeletal components. In culture, mutant cortical neurons showed normal viability and neurite density. However, they develop neurite swellings associated with focal impairment of retrograde transport. These defects occur near the growth cone, in a region characterized by the transition between stable microtubules rich in detyrosinated -tubulin and dynamic microtubules composed almost exclusively of tyrosinated -tubulin. Here, we show that the Sp mutation has a major impact on neurite maintenance and transport both in vivo and in vitro. These results highlight the link between spastin and microtubule dynamics in axons, but not in other neuronal compartments. In addition, it is the first description of a human neurodegenerative disease which involves this specialized region of the axon.
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DOI: 10.1093/hmg/ddl431
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Courageot</name><affiliation><mods:affiliation>Molecular Neurogenetics Laboratory, INSERM, U798, Evry F-91057, France,</mods:affiliation></affiliation><affiliation><mods:affiliation>Universities of Evry and Paris XI, Evry F-91025, France,</mods:affiliation></affiliation></author><author><name sortKey="Charvin, Delphine" sort="Charvin, Delphine" uniqKey="Charvin D" first="Delphine" last="Charvin">Delphine Charvin</name><affiliation><mods:affiliation>Molecular Neurogenetics Laboratory, INSERM, U798, Evry F-91057, France,</mods:affiliation></affiliation><affiliation><mods:affiliation>Universities of Evry and Paris XI, Evry F-91025, France,</mods:affiliation></affiliation></author><author><name sortKey="Vitte, Jrmie" sort="Vitte, Jrmie" uniqKey="Vitte J" first="Jrmie" last="Vitte">Jrmie Vitte</name><affiliation><mods:affiliation>Molecular Neurogenetics Laboratory, INSERM, U798, Evry F-91057, France,</mods:affiliation></affiliation><affiliation><mods:affiliation>Universities of Evry and Paris XI, Evry F-91025, France,</mods:affiliation></affiliation></author><author><name sortKey="Peris, Leticia" sort="Peris, Leticia" uniqKey="Peris L" first="Leticia" last="Peris">Leticia Peris</name><affiliation><mods:affiliation>INSERM Unit 366-DRDC/CS CEA, Grenoble, France,</mods:affiliation></affiliation></author><author><name sortKey="Thorel, Alain" sort="Thorel, Alain" uniqKey="Thorel A" first="Alain" last="Thorel">Alain Thorel</name><affiliation><mods:affiliation>Centre des Matriaux, Ecole des Mines de Paris and CNRS UMR 7633, Evry, France,</mods:affiliation></affiliation></author><author><name sortKey="Mouisel, Etienne" sort="Mouisel, Etienne" uniqKey="Mouisel E" first="Etienne" last="Mouisel">Etienne Mouisel</name><affiliation><mods:affiliation>Molecular Neurogenetics Laboratory, INSERM, U798, Evry F-91057, France,</mods:affiliation></affiliation><affiliation><mods:affiliation>Universities of Evry and Paris XI, Evry F-91025, France,</mods:affiliation></affiliation></author><author><name sortKey="Fonknechten, Nuria" sort="Fonknechten, Nuria" uniqKey="Fonknechten N" first="Nuria" last="Fonknechten">Nuria Fonknechten</name><affiliation><mods:affiliation>Genoscope, Centre National de Squenage and CNRS UMR 8030, Evry, France,</mods:affiliation></affiliation></author><author><name sortKey="Roblot, Natacha" sort="Roblot, Natacha" uniqKey="Roblot N" first="Natacha" last="Roblot">Natacha Roblot</name><affiliation><mods:affiliation>Molecular Neurogenetics Laboratory, INSERM, U798, Evry F-91057, France,</mods:affiliation></affiliation><affiliation><mods:affiliation>Universities of Evry and Paris XI, Evry F-91025, France,</mods:affiliation></affiliation></author><author><name sortKey="Seilhean, Danielle" sort="Seilhean, Danielle" uniqKey="Seilhean D" first="Danielle" last="Seilhean">Danielle Seilhean</name><affiliation><mods:affiliation>Assistance Publique Hpitaux de Paris, Laboratoire de Neuropathologie Raymond Escourolle, Groupe Hospitalier Piti-Salptrire and Paris VI University, France and</mods:affiliation></affiliation></author><author><name sortKey="Dirich, Andre" sort="Dirich, Andre" uniqKey="Dirich A" first="Andre" last="Dirich">Andre Dirich</name><affiliation><mods:affiliation>Institut de Gntique et de Biologie Molculaire et Cellulaire, INSERM, CNRS, ULP, Illkirch, France</mods:affiliation></affiliation></author><author><name sortKey="Hauw, Jean Jacques" sort="Hauw, Jean Jacques" uniqKey="Hauw J" first="Jean Jacques" last="Hauw">Jean Jacques Hauw</name><affiliation><mods:affiliation>Assistance Publique Hpitaux de Paris, Laboratoire de Neuropathologie Raymond Escourolle, Groupe Hospitalier Piti-Salptrire and Paris VI University, France and</mods:affiliation></affiliation></author><author><name sortKey="Melki, Judith" sort="Melki, Judith" uniqKey="Melki J" first="Judith" last="Melki">Judith Melki</name><affiliation><mods:affiliation>Molecular Neurogenetics Laboratory, INSERM, U798, Evry 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We show that a deletion in the mouse Sp gene, generating a premature stop codon, is responsible for progressive axonal degeneration, restricted to the central nervous system, leading to a late and mild motor defect. The degenerative process is characterized by focal axonal swellings, associated with abnormal accumulation of organelles and cytoskeletal components. In culture, mutant cortical neurons showed normal viability and neurite density. However, they develop neurite swellings associated with focal impairment of retrograde transport. These defects occur near the growth cone, in a region characterized by the transition between stable microtubules rich in detyrosinated -tubulin and dynamic microtubules composed almost exclusively of tyrosinated -tubulin. Here, we show that the Sp mutation has a major impact on neurite maintenance and transport both in vivo and in vitro. These results highlight the link between spastin and microtubule dynamics in axons, but not in other neuronal compartments. In addition, it is the first description of a human neurodegenerative disease which involves this specialized region of the axon.</div></front></TEI><istex><corpusName>oup</corpusName><author><json:item><name>Anne Tarrade</name><affiliations><json:string>Molecular Neurogenetics Laboratory, INSERM, U798, Evry F-91057, France,</json:string><json:string>Universities of Evry and Paris XI, Evry F-91025, France,</json:string></affiliations></json:item><json:item><name>Coralie Fassier</name><affiliations><json:string>Molecular Neurogenetics Laboratory, INSERM, U798, Evry F-91057, France,</json:string><json:string>Universities of Evry and Paris XI, Evry F-91025, France,</json:string></affiliations></json:item><json:item><name>Sabrina Courageot</name><affiliations><json:string>Molecular Neurogenetics Laboratory, INSERM, U798, Evry F-91057, France,</json:string><json:string>Universities of Evry and Paris XI, Evry F-91025, France,</json:string></affiliations></json:item><json:item><name>Delphine Charvin</name><affiliations><json:string>Molecular Neurogenetics Laboratory, INSERM, U798, Evry F-91057, France,</json:string><json:string>Universities of Evry and Paris XI, Evry F-91025, France,</json:string></affiliations></json:item><json:item><name>Jrmie Vitte</name><affiliations><json:string>Molecular Neurogenetics Laboratory, INSERM, U798, Evry F-91057, France,</json:string><json:string>Universities of Evry and Paris XI, Evry F-91025, France,</json:string></affiliations></json:item><json:item><name>Leticia Peris</name><affiliations><json:string>INSERM Unit 366-DRDC/CS CEA, Grenoble, France,</json:string></affiliations></json:item><json:item><name>Alain Thorel</name><affiliations><json:string>Centre des Matriaux, Ecole des Mines de Paris and CNRS UMR 7633, Evry, France,</json:string></affiliations></json:item><json:item><name>Etienne Mouisel</name><affiliations><json:string>Molecular Neurogenetics Laboratory, INSERM, U798, Evry F-91057, France,</json:string><json:string>Universities of Evry and Paris XI, Evry F-91025, France,</json:string></affiliations></json:item><json:item><name>Nuria Fonknechten</name><affiliations><json:string>Genoscope, Centre National de Squenage and CNRS UMR 8030, Evry, France,</json:string></affiliations></json:item><json:item><name>Natacha Roblot</name><affiliations><json:string>Molecular Neurogenetics Laboratory, INSERM, U798, Evry F-91057, France,</json:string><json:string>Universities of Evry and Paris XI, Evry F-91025, France,</json:string></affiliations></json:item><json:item><name>Danielle Seilhean</name><affiliations><json:string>Assistance Publique Hpitaux de Paris, Laboratoire de Neuropathologie Raymond Escourolle, Groupe Hospitalier Piti-Salptrire and Paris VI University, France and</json:string></affiliations></json:item><json:item><name>Andre Dirich</name><affiliations><json:string>Institut de Gntique et de Biologie Molculaire et Cellulaire, INSERM, CNRS, ULP, Illkirch, France</json:string></affiliations></json:item><json:item><name>Jean Jacques Hauw</name><affiliations><json:string>Assistance Publique Hpitaux de Paris, Laboratoire de Neuropathologie Raymond Escourolle, Groupe Hospitalier Piti-Salptrire and Paris VI University, France and</json:string></affiliations></json:item><json:item><name>Judith Melki</name><affiliations><json:string>Molecular Neurogenetics Laboratory, INSERM, U798, Evry F-91057, France,</json:string><json:string>Universities of Evry and Paris XI, Evry F-91025, France,</json:string><json:string>E-mail: j.melki@genopole.inserm.fr</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>ARTICLES</value></json:item></subject><articleId><json:string>ddl431</json:string></articleId><language><json:string>eng</json:string></language><originalGenre><json:string>research-article</json:string></originalGenre><abstract>Mutations of the spastin gene (Sp) are responsible for the most frequent autosomal dominant form of spastic paraplegia, a disease characterized by the degeneration of corticospinal tracts. We show that a deletion in the mouse Sp gene, generating a premature stop codon, is responsible for progressive axonal degeneration, restricted to the central nervous system, leading to a late and mild motor defect. The degenerative process is characterized by focal axonal swellings, associated with abnormal accumulation of organelles and cytoskeletal components. In culture, mutant cortical neurons showed normal viability and neurite density. However, they develop neurite swellings associated with focal impairment of retrograde transport. These defects occur near the growth cone, in a region characterized by the transition between stable microtubules rich in detyrosinated -tubulin and dynamic microtubules composed almost exclusively of tyrosinated -tubulin. Here, we show that the Sp mutation has a major impact on neurite maintenance and transport both in vivo and in vitro. These results highlight the link between spastin and microtubule dynamics in axons, but not in other neuronal compartments. In addition, it is the first description of a human neurodegenerative disease which involves this specialized region of the axon.</abstract><qualityIndicators><score>7.316</score><pdfVersion>1.2</pdfVersion><pdfPageSize>610 x 795 pts</pdfPageSize><refBibsNative>false</refBibsNative><keywordCount>1</keywordCount><abstractCharCount>1328</abstractCharCount><pdfWordCount>8682</pdfWordCount><pdfCharCount>53090</pdfCharCount><pdfPageCount>15</pdfPageCount><abstractWordCount>193</abstractWordCount></qualityIndicators><title>A mutation of spastin is responsible for swellings and impairment of transport in a region of axon characterized by changes in microtubule 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composition</title><respStmt><resp>Références bibliographiques récupérées via GROBID</resp><name resp="ISTEX-API">ISTEX-API (INIST-CNRS)</name></respStmt></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>Oxford University Press</publisher><availability><p>2006 The Author(s)</p></availability><date>2006-11-13</date></publicationStmt><notesStmt><note>The authors wish it to be known that, in their opinion, the first two authors should be regarded as joint First Authors.</note></notesStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a">A mutation of spastin is responsible for swellings and impairment of transport in a region of axon characterized by changes in microtubule composition</title><author xml:id="author-1"><persName><forename type="first">Anne</forename><surname>Tarrade</surname></persName><note type="biography">The authors wish it to be known that, in their opinion, the first two authors should be regarded as joint First Authors.</note><affiliation>The authors wish it to be known that, in their opinion, the first two authors should be regarded as joint First Authors.</affiliation><affiliation>Molecular Neurogenetics Laboratory, INSERM, U798, Evry F-91057, France,</affiliation><affiliation>Universities of Evry and Paris XI, Evry F-91025, France,</affiliation></author><author xml:id="author-2"><persName><forename type="first">Coralie</forename><surname>Fassier</surname></persName><note type="biography">The authors wish it to be known that, in their opinion, the first two authors should be regarded as joint First Authors.</note><affiliation>The authors wish it to be known that, in their opinion, the first two authors should be regarded as joint First Authors.</affiliation><affiliation>Molecular Neurogenetics Laboratory, INSERM, U798, Evry F-91057, France,</affiliation><affiliation>Universities of Evry and Paris XI, Evry F-91025, France,</affiliation></author><author xml:id="author-3"><persName><forename type="first">Sabrina</forename><surname>Courageot</surname></persName><affiliation>Molecular Neurogenetics Laboratory, INSERM, U798, Evry F-91057, France,</affiliation><affiliation>Universities of Evry and Paris XI, Evry F-91025, France,</affiliation></author><author xml:id="author-4"><persName><forename type="first">Delphine</forename><surname>Charvin</surname></persName><note type="biography">Present address: Institute of Neurosciences, Swiss Federal Institute of Technology Lausanne, Ecole Polytechnique Fdrale de Lausanne, CH-1015 Lausanne, Switzerland.</note><affiliation>Present address: Institute of Neurosciences, Swiss Federal Institute of Technology Lausanne, Ecole Polytechnique Fdrale de Lausanne, CH-1015 Lausanne, Switzerland.</affiliation><affiliation>Molecular Neurogenetics Laboratory, INSERM, U798, Evry F-91057, France,</affiliation><affiliation>Universities of Evry and Paris XI, Evry F-91025, France,</affiliation></author><author xml:id="author-5"><persName><forename type="first">Jrmie</forename><surname>Vitte</surname></persName><affiliation>Molecular Neurogenetics Laboratory, INSERM, U798, Evry F-91057, France,</affiliation><affiliation>Universities of Evry and Paris XI, Evry F-91025, France,</affiliation></author><author xml:id="author-6"><persName><forename type="first">Leticia</forename><surname>Peris</surname></persName><affiliation>INSERM Unit 366-DRDC/CS CEA, Grenoble, France,</affiliation></author><author xml:id="author-7"><persName><forename type="first">Alain</forename><surname>Thorel</surname></persName><affiliation>Centre des Matriaux, Ecole des Mines de Paris and CNRS UMR 7633, Evry, France,</affiliation></author><author xml:id="author-8"><persName><forename type="first">Etienne</forename><surname>Mouisel</surname></persName><affiliation>Molecular Neurogenetics Laboratory, INSERM, U798, Evry F-91057, France,</affiliation><affiliation>Universities of Evry and Paris XI, Evry F-91025, France,</affiliation></author><author xml:id="author-9"><persName><forename type="first">Nuria</forename><surname>Fonknechten</surname></persName><affiliation>Genoscope, Centre National de Squenage and CNRS UMR 8030, Evry, France,</affiliation></author><author xml:id="author-10"><persName><forename type="first">Natacha</forename><surname>Roblot</surname></persName><affiliation>Molecular Neurogenetics Laboratory, INSERM, U798, Evry F-91057, France,</affiliation><affiliation>Universities of Evry and Paris XI, Evry F-91025, France,</affiliation></author><author xml:id="author-11"><persName><forename type="first">Danielle</forename><surname>Seilhean</surname></persName><affiliation>Assistance Publique Hpitaux de Paris, Laboratoire de Neuropathologie Raymond Escourolle, Groupe Hospitalier Piti-Salptrire and Paris VI University, France and</affiliation></author><author xml:id="author-12"><persName><forename type="first">Andre</forename><surname>Dirich</surname></persName><affiliation>Institut de Gntique et de Biologie Molculaire et Cellulaire, INSERM, CNRS, ULP, Illkirch, France</affiliation></author><author xml:id="author-13"><persName><forename type="first">Jean Jacques</forename><surname>Hauw</surname></persName><affiliation>Assistance Publique Hpitaux de Paris, Laboratoire de Neuropathologie Raymond Escourolle, Groupe Hospitalier Piti-Salptrire and Paris VI University, France and</affiliation></author><author xml:id="author-14" corresp="yes"><persName><forename type="first">Judith</forename><surname>Melki</surname></persName><email>j.melki@genopole.inserm.fr</email><affiliation>Molecular Neurogenetics Laboratory, INSERM, U798, Evry F-91057, France,</affiliation><affiliation>Universities of Evry and Paris XI, Evry F-91025, France,</affiliation></author></analytic><monogr><title level="j">Human Molecular Genetics</title><idno type="pISSN">0964-6906</idno><idno type="eISSN">1460-2083</idno><imprint><publisher>Oxford University Press</publisher><date type="published" when="2006-12-15"></date><biblScope unit="volume">15</biblScope><biblScope unit="issue">24</biblScope><biblScope unit="page" from="3544">3544</biblScope><biblScope unit="page" to="3558">3558</biblScope></imprint></monogr><idno type="istex">9D9492179BBD41170B8992C9899E9987E000750E</idno><idno type="DOI">10.1093/hmg/ddl431</idno><idno type="ArticleID">ddl431</idno></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>2006-11-13</date></creation><langUsage><language ident="en">en</language></langUsage><abstract><p>Mutations of the spastin gene (Sp) are responsible for the most frequent autosomal dominant form of spastic paraplegia, a disease characterized by the degeneration of corticospinal tracts. We show that a deletion in the mouse Sp gene, generating a premature stop codon, is responsible for progressive axonal degeneration, restricted to the central nervous system, leading to a late and mild motor defect. The degenerative process is characterized by focal axonal swellings, associated with abnormal accumulation of organelles and cytoskeletal components. In culture, mutant cortical neurons showed normal viability and neurite density. However, they develop neurite swellings associated with focal impairment of retrograde transport. These defects occur near the growth cone, in a region characterized by the transition between stable microtubules rich in detyrosinated -tubulin and dynamic microtubules composed almost exclusively of tyrosinated -tubulin. Here, we show that the Sp mutation has a major impact on neurite maintenance and transport both in vivo and in vitro. These results highlight the link between spastin and microtubule dynamics in axons, but not in other neuronal compartments. In addition, it is the first description of a human neurodegenerative disease which involves this specialized region of the axon.</p></abstract><textClass><keywords scheme="keyword"><list><item><term>ARTICLES</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="2006-11-13">Created</change><change when="2006-12-15">Published</change><change xml:id="refBibs-istex" who="#ISTEX-API" when="2016-10-14">References added</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/9D9492179BBD41170B8992C9899E9987E000750E/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="corpus oup" wicri:toSee="no header"><istex:xmlDeclaration>version="1.0" encoding="utf-8"</istex:xmlDeclaration><istex:docType PUBLIC="-//NLM//DTD Journal Publishing DTD v2.3 20070202//EN" URI="journalpublishing.dtd" name="istex:docType"></istex:docType><istex:document><article article-type="research-article"><front><journal-meta><journal-id journal-id-type="hwp">hmg</journal-id><journal-id journal-id-type="publisher-id">hmg</journal-id><journal-title>Human Molecular Genetics</journal-title><issn pub-type="ppub">0964-6906</issn><issn pub-type="epub">1460-2083</issn><publisher><publisher-name>Oxford University Press</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="doi">10.1093/hmg/ddl431</article-id><article-id pub-id-type="publisher-id">ddl431</article-id><article-categories><subj-group><subject>ARTICLES</subject></subj-group></article-categories><title-group><article-title>A mutation of <italic>spastin</italic> is responsible for swellings and impairment of transport in a region of axon characterized by changes in microtubule composition</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Tarrade</surname><given-names>Anne</given-names></name><xref ref-type="aff" rid="af1">1</xref><xref ref-type="aff" rid="af2">2</xref><xref ref-type="author-notes" rid="FN1">†</xref></contrib><contrib contrib-type="author"><name><surname>Fassier</surname><given-names>Coralie</given-names></name><xref ref-type="aff" rid="af1">1</xref><xref ref-type="aff" rid="af2">2</xref><xref ref-type="author-notes" rid="FN1">†</xref></contrib><contrib contrib-type="author"><name><surname>Courageot</surname><given-names>Sabrina</given-names></name><xref ref-type="aff" rid="af1">1</xref><xref ref-type="aff" rid="af2">2</xref></contrib><contrib contrib-type="author"><name><surname>Charvin</surname><given-names>Delphine</given-names></name><xref ref-type="aff" rid="af1">1</xref><xref ref-type="aff" rid="af2">2</xref><xref ref-type="author-notes" rid="FN2">‡</xref></contrib><contrib contrib-type="author"><name><surname>Vitte</surname><given-names>Jérémie</given-names></name><xref ref-type="aff" rid="af1">1</xref><xref ref-type="aff" rid="af2">2</xref></contrib><contrib contrib-type="author"><name><surname>Peris</surname><given-names>Leticia</given-names></name><xref ref-type="aff" rid="af3">3</xref></contrib><contrib contrib-type="author"><name><surname>Thorel</surname><given-names>Alain</given-names></name><xref ref-type="aff" rid="af4">4</xref></contrib><contrib contrib-type="author"><name><surname>Mouisel</surname><given-names>Etienne</given-names></name><xref ref-type="aff" rid="af1">1</xref><xref ref-type="aff" rid="af2">2</xref></contrib><contrib contrib-type="author"><name><surname>Fonknechten</surname><given-names>Nuria</given-names></name><xref ref-type="aff" rid="af5">5</xref></contrib><contrib contrib-type="author"><name><surname>Roblot</surname><given-names>Natacha</given-names></name><xref ref-type="aff" rid="af1">1</xref><xref ref-type="aff" rid="af2">2</xref></contrib><contrib contrib-type="author"><name><surname>Seilhean</surname><given-names>Danielle</given-names></name><xref ref-type="aff" rid="af6">6</xref></contrib><contrib contrib-type="author"><name><surname>Diérich</surname><given-names>Andrée</given-names></name><xref ref-type="aff" rid="af7">7</xref></contrib><contrib contrib-type="author"><name><surname>Hauw</surname><given-names>Jean Jacques</given-names></name><xref ref-type="aff" rid="af6">6</xref></contrib><contrib contrib-type="author" corresp="yes"><name><surname>Melki</surname><given-names>Judith</given-names></name><xref ref-type="aff" rid="af1">1</xref><xref ref-type="aff" rid="af2">2</xref><xref ref-type="corresp" rid="cor1">*</xref></contrib></contrib-group><aff id="af1"><label>1</label><addr-line>Molecular Neurogenetics Laboratory</addr-line>, <institution>INSERM</institution>, <addr-line>U798, Evry F-91057</addr-line>, <country>France</country>,</aff><aff id="af2"><label>2</label><institution>Universities of Evry and Paris XI</institution>, <addr-line>Evry F-91025</addr-line>, <country>France</country>,</aff><aff id="af3"><label>3</label><institution>INSERM Unité 366-DRDC/CS CEA</institution>, <addr-line>Grenoble</addr-line>, <country>France</country>,</aff><aff id="af4"><label>4</label><addr-line>Centre des Matériaux</addr-line>, <institution>Ecole des Mines de Paris and CNRS</institution> <addr-line>UMR 7633, Evry</addr-line>, <country>France</country>,</aff><aff id="af5"><label>5</label><addr-line>Genoscope</addr-line>, <institution>Centre National de Séquençage and CNRS UMR 8030</institution>, <addr-line>Evry</addr-line>, <country>France</country>,</aff><aff id="af6"><label>6</label><addr-line>Assistance Publique Hôpitaux de Paris, Laboratoire de Neuropathologie Raymond Escourolle</addr-line>, <institution>Groupe Hospitalier Pitié-Salpétrière and Paris VI University</institution>, <country>France</country> and</aff><aff id="af7"><label>7</label><addr-line>Institut de Génétique et de Biologie Moléculaire et Cellulaire</addr-line>, <institution>INSERM</institution>, <addr-line>CNRS, ULP, Illkirch</addr-line>, <country>France</country></aff><author-notes><corresp id="cor1"><label>*</label>To whom the correspondence should be addressed at: <addr-line>Molecular Neurogenetics Laboratory, INSERM</addr-line>, <institution>University of Evry</institution>, <addr-line>U-798, 2 rue Gaston Crémieux, CP5724, 91057 Evry</addr-line>, <country>France</country>. Tel: <phone>+33 160874552</phone>; Fax: <fax>+33 160874550</fax>; Email: <email>j.melki@genopole.inserm.fr</email></corresp><fn id="FN1" symbol="†"><p>The authors wish it to be known that, in their opinion, the first two authors should be regarded as joint First Authors.</p></fn><fn id="FN2" symbol="‡"><p>Present address: Institute of Neurosciences, Swiss Federal Institute of Technology Lausanne, Ecole Polytechnique Fédérale de Lausanne, CH-1015 Lausanne, Switzerland.</p></fn></author-notes><pub-date pub-type="ppub"><day>15</day><month>December</month><year>2006</year></pub-date><pub-date pub-type="epub"><day>13</day><month>11</month><year>2006</year></pub-date><volume>15</volume><issue>24</issue><fpage>3544</fpage><lpage>3558</lpage><history><date date-type="received"><day>20</day><month>9</month><year>2006</year></date><date date-type="accepted"><day>1</day><month>11</month><year>2006</year></date></history><copyright-statement>© 2006 The Author(s)</copyright-statement><copyright-year>2006</copyright-year><license license-type="open-access" xlink:href="http://creativecommons.org/licenses/by-nc/2.0/uk/"><p>This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/2.0/uk/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.</p></license><abstract><p>Mutations of the <italic>spastin</italic> gene (<italic>Sp</italic>) are responsible for the most frequent autosomal dominant form of spastic paraplegia, a disease characterized by the degeneration of corticospinal tracts. We show that a deletion in the mouse <italic>Sp</italic> gene, generating a premature stop codon, is responsible for progressive axonal degeneration, restricted to the central nervous system, leading to a late and mild motor defect. The degenerative process is characterized by focal axonal swellings, associated with abnormal accumulation of organelles and cytoskeletal components. In culture, mutant cortical neurons showed normal viability and neurite density. However, they develop neurite swellings associated with focal impairment of retrograde transport. These defects occur near the growth cone, in a region characterized by the transition between stable microtubules rich in detyrosinated α-tubulin and dynamic microtubules composed almost exclusively of tyrosinated α-tubulin. Here, we show that the Sp mutation has a major impact on neurite maintenance and transport both <italic>in vivo</italic> and <italic>in vitro</italic>. These results highlight the link between spastin and microtubule dynamics in axons, but not in other neuronal compartments. In addition, it is the first description of a human neurodegenerative disease which involves this specialized region of the axon.</p></abstract></article-meta></front></article></istex:document></istex:metadataXml><mods version="3.6"><titleInfo><title>A mutation of spastin is responsible for swellings and impairment of transport in a region of axon characterized by changes in microtubule composition</title></titleInfo><titleInfo type="alternative" contentType="CDATA"><title>A mutation of spastin is responsible for swellings and impairment of transport in a region of axon characterized by changes in microtubule composition</title></titleInfo><name type="personal"><namePart type="given">Anne</namePart><namePart type="family">Tarrade</namePart><affiliation>Molecular Neurogenetics Laboratory, INSERM, U798, Evry F-91057, France,</affiliation><affiliation>Universities of Evry and Paris XI, Evry F-91025, France,</affiliation><description>The authors wish it to be known that, in their opinion, the first two authors should be regarded as joint First Authors.</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Coralie</namePart><namePart type="family">Fassier</namePart><affiliation>Molecular Neurogenetics Laboratory, INSERM, U798, Evry F-91057, France,</affiliation><affiliation>Universities of Evry and Paris XI, Evry F-91025, France,</affiliation><description>The authors wish it to be known that, in their opinion, the first two authors should be regarded as joint First Authors.</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Sabrina</namePart><namePart type="family">Courageot</namePart><affiliation>Molecular Neurogenetics Laboratory, INSERM, U798, Evry F-91057, France,</affiliation><affiliation>Universities of Evry and Paris XI, Evry F-91025, France,</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name 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type="personal"><namePart type="given">Natacha</namePart><namePart type="family">Roblot</namePart><affiliation>Molecular Neurogenetics Laboratory, INSERM, U798, Evry F-91057, France,</affiliation><affiliation>Universities of Evry and Paris XI, Evry F-91025, France,</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Danielle</namePart><namePart type="family">Seilhean</namePart><affiliation>Assistance Publique Hpitaux de Paris, Laboratoire de Neuropathologie Raymond Escourolle, Groupe Hospitalier Piti-Salptrire and Paris VI University, France and</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Andre</namePart><namePart type="family">Dirich</namePart><affiliation>Institut de Gntique et de Biologie Molculaire et Cellulaire, INSERM, CNRS, ULP, Illkirch, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name 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These results highlight the link between spastin and microtubule dynamics in axons, but not in other neuronal compartments. 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