Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece
Identifieur interne : 001890 ( Istex/Corpus ); précédent : 001889; suivant : 001891Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece
Auteurs : Bénédicte Héron ; Yann Mikaeloff ; Roseline Froissart ; Guillaume Caridade ; Irène Maire ; Catherine Caillaud ; Thierry Levade ; Brigitte Chabrol ; François Feillet ; Hélène Ogier ; Vassili Valayannopoulos ; Helen Michelakakis ; Dimitrios Zafeiriou ; Lucy Lavery ; Ed Wraith ; Olivier Danos ; Jean-Michel Heard ; Marc TardieuSource :
- American Journal of Medical Genetics Part A [ 1552-4825 ] ; 2011-01.
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- KwdEn :
Abstract
Sanfilippo syndrome, or mucopolysaccharidosis type III (MPSIII) is a lysosomal storage disease with predominant neurological manifestations in affected children. It is considered heterogeneous with respect to prevalence, clinical presentation, biochemistry (four biochemical forms of the disease referred to as MPSIIIA, B, C, and D are known), and causative mutations. The perspective of therapeutic options emphasizes the need for better knowledge of MPSIII incidence and natural history. We performed parallel retrospective epidemiological studies of patients diagnosed with MSPIII in France (n = 128), UK (n = 126), and Greece (n = 20) from 1990 to 2006. Incidences ranged from 0.68 per 100,000 live‐births in France to 1.21 per 100,000 live‐births in UK. MPSIIIA, which predominates in France and UK, was absent in Greece, where most patients have MPSIIIB. The study confirmed the large allelic heterogeneity of MPSIIIA and MPSIIIB and detected several yet undescribed mutations. Analysis of clinical manifestations at diagnosis and over a 6–7 years follow‐up indicated that almost all patients, whatever the disease subtype, expressed neurological manifestations before the age of 5 years, including language acquisition delay, cognitive delay, and/or abnormal behavior. In contrast to relatively homogeneous early onset manifestations, disease progression showed significant variation depending on subtype and age at diagnosis. Different severities of disease progressions and different allele distribution between France and UK suggested that mutations are not equally deleterious, although genotype–phenotype correlation could not be established. Notwithstanding the rapidity of further clinical deterioration, all MPSIII patients suffer early onset devastating neurological manifestations that deserve early treatment when available. © 2010 Wiley‐Liss, Inc.
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DOI: 10.1002/ajmg.a.33779
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métabolisme, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Michelakakis, Helen" sort="Michelakakis, Helen" uniqKey="Michelakakis H" first="Helen" last="Michelakakis">Helen Michelakakis</name><affiliation><mods:affiliation>Department of Enzymology and Cellular Function, Institute of Child Health, Athens, Greece</mods:affiliation></affiliation></author><author><name sortKey="Zafeiriou, Dimitrios" sort="Zafeiriou, Dimitrios" uniqKey="Zafeiriou D" first="Dimitrios" last="Zafeiriou">Dimitrios Zafeiriou</name><affiliation><mods:affiliation>First Department of Pediatrics, Aristotle University, Thessaloniki, Greece</mods:affiliation></affiliation></author><author><name sortKey="Lavery, Lucy" sort="Lavery, Lucy" uniqKey="Lavery L" first="Lucy" last="Lavery">Lucy Lavery</name><affiliation><mods:affiliation>Society for Mucopolysaccharide Diseases, Amersham, UK</mods:affiliation></affiliation></author><author><name sortKey="Wraith, Ed" sort="Wraith, Ed" uniqKey="Wraith E" first="Ed" last="Wraith">Ed Wraith</name><affiliation><mods:affiliation>Genetic Medicine, St. Mary's Hospital, Oxford Road, Manchester, UK</mods:affiliation></affiliation></author><author><name sortKey="Danos, Olivier" sort="Danos, Olivier" uniqKey="Danos O" first="Olivier" last="Danos">Olivier Danos</name><affiliation><mods:affiliation>Assistance Publique‐Hôpitaux de Paris, hôpital Necker, Université Paris‐Descartes 5, INSERM U781, Centre de référence des maladies héréditaires du métabolisme, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Heard, Jean Ichel" sort="Heard, Jean Ichel" uniqKey="Heard J" first="Jean-Michel" last="Heard">Jean-Michel Heard</name><affiliation><mods:affiliation>Département de Neuroscience, Institut Pasteur, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>INSERM U622, Institut Pasteur, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Tardieu, Marc" sort="Tardieu, Marc" uniqKey="Tardieu M" first="Marc" last="Tardieu">Marc Tardieu</name><affiliation><mods:affiliation>Assistance Publique‐Hôpitaux de Paris, hôpital Bicêtre, Université Paris‐Sud 11, INSERM U1012 et 1018, Le Kremlin‐Bicêtre, France</mods:affiliation></affiliation><affiliation><mods:affiliation>Neurologie pédiatrique, Hôpital Bicêtre, 94275 Le Kremlin Bicetre Cedex, France.</mods:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:6EF8592CEE260E0778327051037E2588D86FF4A6</idno><date when="2011" year="2011">2011</date><idno type="doi">10.1002/ajmg.a.33779</idno><idno type="url">https://api.istex.fr/document/6EF8592CEE260E0778327051037E2588D86FF4A6/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">001890</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece</title><author><name sortKey="Heron, Benedicte" sort="Heron, Benedicte" uniqKey="Heron B" first="Bénédicte" last="Héron">Bénédicte Héron</name><affiliation><mods:affiliation>Assistance Publique‐Hôpitaux de Paris, hôpital Trousseau, Centre de référence des maladies lysosomales, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Mikaeloff, Yann" sort="Mikaeloff, Yann" uniqKey="Mikaeloff Y" first="Yann" last="Mikaeloff">Yann Mikaeloff</name><affiliation><mods:affiliation>Assistance Publique‐Hôpitaux de Paris, hôpital Bicêtre, Université Paris‐Sud 11, INSERM U1012 et 1018, Le Kremlin‐Bicêtre, France</mods:affiliation></affiliation></author><author><name sortKey="Froissart, Roseline" sort="Froissart, Roseline" uniqKey="Froissart R" first="Roseline" last="Froissart">Roseline Froissart</name><affiliation><mods:affiliation>Hospices Civils de Lyon, Laboratoire des maladies héréditaires du métabolisme, Centre de Biologie Est, Bron, France</mods:affiliation></affiliation></author><author><name sortKey="Caridade, Guillaume" sort="Caridade, Guillaume" uniqKey="Caridade G" first="Guillaume" last="Caridade">Guillaume Caridade</name><affiliation><mods:affiliation>Assistance Publique‐Hôpitaux de Paris, hôpital Bicêtre, Université Paris‐Sud 11, INSERM U1012 et 1018, Le Kremlin‐Bicêtre, France</mods:affiliation></affiliation></author><author><name sortKey="Maire, Irene" sort="Maire, Irene" uniqKey="Maire I" first="Irène" last="Maire">Irène Maire</name><affiliation><mods:affiliation>Hospices Civils de Lyon, Laboratoire des maladies héréditaires du métabolisme, Centre de Biologie Est, Bron, France</mods:affiliation></affiliation></author><author><name sortKey="Caillaud, Catherine" sort="Caillaud, Catherine" uniqKey="Caillaud C" first="Catherine" last="Caillaud">Catherine Caillaud</name><affiliation><mods:affiliation>Assistance Publique‐Hôpitaux de Paris, hôpital Cochin‐Saint Vincent de Paul, Laboratoire de biochimie génétique, Université Paris Descartes, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Levade, Thierry" sort="Levade, Thierry" uniqKey="Levade T" first="Thierry" last="Levade">Thierry Levade</name><affiliation><mods:affiliation>Laboratoire de biochimie métabolique, Institut Fédératif de biologie, CHU, Toulouse, France</mods:affiliation></affiliation></author><author><name sortKey="Chabrol, Brigitte" sort="Chabrol, Brigitte" uniqKey="Chabrol B" first="Brigitte" last="Chabrol">Brigitte Chabrol</name><affiliation><mods:affiliation>Centre de référence des maladies héréditaire du métabolisme, Service de neurologie pédiatrique, CHU Timone, Marseille, France</mods:affiliation></affiliation></author><author><name sortKey="Feillet, Francois" sort="Feillet, Francois" uniqKey="Feillet F" first="François" last="Feillet">François Feillet</name><affiliation><mods:affiliation>Département de pédiatrie, Hôpital d'enfant, CHU, INSERM U954, centre de référence des maladies héréditaires du métabolisme, Vandoeuvre les Nancy, France</mods:affiliation></affiliation></author><author><name sortKey="Ogier, Helene" sort="Ogier, Helene" uniqKey="Ogier H" first="Hélène" last="Ogier">Hélène Ogier</name><affiliation><mods:affiliation>Assistance Publique‐Hôpitaux de Paris, hôpital Robert Debré, Centre de référence des maladies héréditaires du métabolisme, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Valayannopoulos, Vassili" sort="Valayannopoulos, Vassili" uniqKey="Valayannopoulos V" first="Vassili" last="Valayannopoulos">Vassili Valayannopoulos</name><affiliation><mods:affiliation>Assistance Publique‐Hôpitaux de Paris, hôpital Necker, Université Paris‐Descartes 5, INSERM U781, Centre de référence des maladies héréditaires du métabolisme, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Michelakakis, Helen" sort="Michelakakis, Helen" uniqKey="Michelakakis H" first="Helen" last="Michelakakis">Helen Michelakakis</name><affiliation><mods:affiliation>Department of Enzymology and Cellular Function, Institute of Child Health, Athens, Greece</mods:affiliation></affiliation></author><author><name sortKey="Zafeiriou, Dimitrios" sort="Zafeiriou, Dimitrios" uniqKey="Zafeiriou D" first="Dimitrios" last="Zafeiriou">Dimitrios Zafeiriou</name><affiliation><mods:affiliation>First Department of Pediatrics, Aristotle University, Thessaloniki, Greece</mods:affiliation></affiliation></author><author><name sortKey="Lavery, Lucy" sort="Lavery, Lucy" uniqKey="Lavery L" first="Lucy" last="Lavery">Lucy Lavery</name><affiliation><mods:affiliation>Society for Mucopolysaccharide Diseases, Amersham, UK</mods:affiliation></affiliation></author><author><name sortKey="Wraith, Ed" sort="Wraith, Ed" uniqKey="Wraith E" first="Ed" last="Wraith">Ed Wraith</name><affiliation><mods:affiliation>Genetic Medicine, St. Mary's Hospital, Oxford Road, Manchester, UK</mods:affiliation></affiliation></author><author><name sortKey="Danos, Olivier" sort="Danos, Olivier" uniqKey="Danos O" first="Olivier" last="Danos">Olivier Danos</name><affiliation><mods:affiliation>Assistance Publique‐Hôpitaux de Paris, hôpital Necker, Université Paris‐Descartes 5, INSERM U781, Centre de référence des maladies héréditaires du métabolisme, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Heard, Jean Ichel" sort="Heard, Jean Ichel" uniqKey="Heard J" first="Jean-Michel" last="Heard">Jean-Michel Heard</name><affiliation><mods:affiliation>Département de Neuroscience, Institut Pasteur, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>INSERM U622, Institut Pasteur, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Tardieu, Marc" sort="Tardieu, Marc" uniqKey="Tardieu M" first="Marc" last="Tardieu">Marc Tardieu</name><affiliation><mods:affiliation>Assistance Publique‐Hôpitaux de Paris, hôpital Bicêtre, Université Paris‐Sud 11, INSERM U1012 et 1018, Le Kremlin‐Bicêtre, France</mods:affiliation></affiliation><affiliation><mods:affiliation>Neurologie pédiatrique, Hôpital Bicêtre, 94275 Le Kremlin Bicetre Cedex, France.</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">American Journal of Medical Genetics Part A</title><title level="j" type="abbrev">Am. J. Med. Genet.</title><idno type="ISSN">1552-4825</idno><idno type="eISSN">1552-4833</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2011-01">2011-01</date><biblScope unit="volume">155</biblScope><biblScope unit="issue">1</biblScope><biblScope unit="page" from="58">58</biblScope><biblScope unit="page" to="68">68</biblScope></imprint><idno type="ISSN">1552-4825</idno></series><idno type="istex">6EF8592CEE260E0778327051037E2588D86FF4A6</idno><idno type="DOI">10.1002/ajmg.a.33779</idno><idno type="ArticleID">AJMG33779</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">1552-4825</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>MPSIII</term><term>incidence</term><term>mucopolysaccharidosis</term><term>natural history</term><term>sanfilippo</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Sanfilippo syndrome, or mucopolysaccharidosis type III (MPSIII) is a lysosomal storage disease with predominant neurological manifestations in affected children. It is considered heterogeneous with respect to prevalence, clinical presentation, biochemistry (four biochemical forms of the disease referred to as MPSIIIA, B, C, and D are known), and causative mutations. The perspective of therapeutic options emphasizes the need for better knowledge of MPSIII incidence and natural history. We performed parallel retrospective epidemiological studies of patients diagnosed with MSPIII in France (n = 128), UK (n = 126), and Greece (n = 20) from 1990 to 2006. Incidences ranged from 0.68 per 100,000 live‐births in France to 1.21 per 100,000 live‐births in UK. MPSIIIA, which predominates in France and UK, was absent in Greece, where most patients have MPSIIIB. The study confirmed the large allelic heterogeneity of MPSIIIA and MPSIIIB and detected several yet undescribed mutations. Analysis of clinical manifestations at diagnosis and over a 6–7 years follow‐up indicated that almost all patients, whatever the disease subtype, expressed neurological manifestations before the age of 5 years, including language acquisition delay, cognitive delay, and/or abnormal behavior. In contrast to relatively homogeneous early onset manifestations, disease progression showed significant variation depending on subtype and age at diagnosis. Different severities of disease progressions and different allele distribution between France and UK suggested that mutations are not equally deleterious, although genotype–phenotype correlation could not be established. Notwithstanding the rapidity of further clinical deterioration, all MPSIII patients suffer early onset devastating neurological manifestations that deserve early treatment when available. © 2010 Wiley‐Liss, Inc.</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Bénédicte Héron</name><affiliations><json:string>Assistance Publique‐Hôpitaux de Paris, hôpital Trousseau, Centre de référence des maladies lysosomales, Paris, France</json:string></affiliations></json:item><json:item><name>Yann Mikaeloff</name><affiliations><json:string>Assistance Publique‐Hôpitaux de Paris, hôpital Bicêtre, Université Paris‐Sud 11, INSERM U1012 et 1018, Le Kremlin‐Bicêtre, France</json:string></affiliations></json:item><json:item><name>Roseline Froissart</name><affiliations><json:string>Hospices Civils de Lyon, Laboratoire des maladies héréditaires du métabolisme, Centre de Biologie Est, Bron, France</json:string></affiliations></json:item><json:item><name>Guillaume Caridade</name><affiliations><json:string>Assistance Publique‐Hôpitaux de Paris, hôpital Bicêtre, Université Paris‐Sud 11, INSERM U1012 et 1018, Le Kremlin‐Bicêtre, France</json:string></affiliations></json:item><json:item><name>Irène Maire</name><affiliations><json:string>Hospices Civils de Lyon, Laboratoire des maladies héréditaires du métabolisme, Centre de Biologie Est, Bron, France</json:string></affiliations></json:item><json:item><name>Catherine Caillaud</name><affiliations><json:string>Assistance Publique‐Hôpitaux de Paris, hôpital Cochin‐Saint Vincent de Paul, Laboratoire de biochimie génétique, Université Paris Descartes, Paris, France</json:string></affiliations></json:item><json:item><name>Thierry Levade</name><affiliations><json:string>Laboratoire de biochimie métabolique, Institut Fédératif de biologie, CHU, Toulouse, France</json:string></affiliations></json:item><json:item><name>Brigitte Chabrol</name><affiliations><json:string>Centre de référence des maladies héréditaire du métabolisme, Service de neurologie pédiatrique, CHU Timone, Marseille, France</json:string></affiliations></json:item><json:item><name>François Feillet</name><affiliations><json:string>Département de pédiatrie, Hôpital d'enfant, CHU, INSERM U954, centre de référence des maladies héréditaires du métabolisme, Vandoeuvre les Nancy, France</json:string></affiliations></json:item><json:item><name>Hélène Ogier</name><affiliations><json:string>Assistance Publique‐Hôpitaux de Paris, hôpital Robert Debré, Centre de référence des maladies héréditaires du métabolisme, Paris, France</json:string></affiliations></json:item><json:item><name>Vassili Valayannopoulos</name><affiliations><json:string>Assistance Publique‐Hôpitaux de Paris, hôpital Necker, Université Paris‐Descartes 5, INSERM U781, Centre de référence des maladies héréditaires du métabolisme, Paris, France</json:string></affiliations></json:item><json:item><name>Helen Michelakakis</name><affiliations><json:string>Department of Enzymology and Cellular Function, Institute of Child Health, Athens, Greece</json:string></affiliations></json:item><json:item><name>Dimitrios Zafeiriou</name><affiliations><json:string>First Department of Pediatrics, Aristotle University, Thessaloniki, Greece</json:string></affiliations></json:item><json:item><name>Lucy Lavery</name><affiliations><json:string>Society for Mucopolysaccharide Diseases, Amersham, UK</json:string></affiliations></json:item><json:item><name>Ed Wraith</name><affiliations><json:string>Genetic Medicine, St. Mary's Hospital, Oxford Road, Manchester, UK</json:string></affiliations></json:item><json:item><name>Olivier Danos</name><affiliations><json:string>Assistance Publique‐Hôpitaux de Paris, hôpital Necker, Université Paris‐Descartes 5, INSERM U781, Centre de référence des maladies héréditaires du métabolisme, Paris, France</json:string></affiliations></json:item><json:item><name>Jean‐Michel Heard</name><affiliations><json:string>Département de Neuroscience, Institut Pasteur, Paris, France</json:string><json:string>INSERM U622, Institut Pasteur, Paris, France</json:string></affiliations></json:item><json:item><name>Marc Tardieu</name><affiliations><json:string>Assistance Publique‐Hôpitaux de Paris, hôpital Bicêtre, Université Paris‐Sud 11, INSERM U1012 et 1018, Le Kremlin‐Bicêtre, France</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>mucopolysaccharidosis</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>MPSIII</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>sanfilippo</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>incidence</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>natural history</value></json:item></subject><articleId><json:string>AJMG33779</json:string></articleId><language><json:string>eng</json:string></language><originalGenre><json:string>article</json:string></originalGenre><abstract>Sanfilippo syndrome, or mucopolysaccharidosis type III (MPSIII) is a lysosomal storage disease with predominant neurological manifestations in affected children. It is considered heterogeneous with respect to prevalence, clinical presentation, biochemistry (four biochemical forms of the disease referred to as MPSIIIA, B, C, and D are known), and causative mutations. The perspective of therapeutic options emphasizes the need for better knowledge of MPSIII incidence and natural history. We performed parallel retrospective epidemiological studies of patients diagnosed with MSPIII in France (n = 128), UK (n = 126), and Greece (n = 20) from 1990 to 2006. Incidences ranged from 0.68 per 100,000 live‐births in France to 1.21 per 100,000 live‐births in UK. MPSIIIA, which predominates in France and UK, was absent in Greece, where most patients have MPSIIIB. The study confirmed the large allelic heterogeneity of MPSIIIA and MPSIIIB and detected several yet undescribed mutations. Analysis of clinical manifestations at diagnosis and over a 6–7 years follow‐up indicated that almost all patients, whatever the disease subtype, expressed neurological manifestations before the age of 5 years, including language acquisition delay, cognitive delay, and/or abnormal behavior. In contrast to relatively homogeneous early onset manifestations, disease progression showed significant variation depending on subtype and age at diagnosis. Different severities of disease progressions and different allele distribution between France and UK suggested that mutations are not equally deleterious, although genotype–phenotype correlation could not be established. Notwithstanding the rapidity of further clinical deterioration, all MPSIII patients suffer early onset devastating neurological manifestations that deserve early treatment when available. © 2010 Wiley‐Liss, Inc.</abstract><qualityIndicators><score>8</score><pdfVersion>1.3</pdfVersion><pdfPageSize>594 x 792 pts</pdfPageSize><refBibsNative>true</refBibsNative><keywordCount>5</keywordCount><abstractCharCount>1866</abstractCharCount><pdfWordCount>7951</pdfWordCount><pdfCharCount>49459</pdfCharCount><pdfPageCount>11</pdfPageCount><abstractWordCount>250</abstractWordCount></qualityIndicators><title>Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece</title><genre><json:string>article</json:string></genre><host><volume>155</volume><publisherId><json:string>AJMG</json:string></publisherId><pages><total>11</total><last>68</last><first>58</first></pages><issn><json:string>1552-4825</json:string></issn><issue>1</issue><subject><json:item><value>Research Article</value></json:item></subject><genre><json:string>journal</json:string></genre><language><json:string>unknown</json:string></language><eissn><json:string>1552-4833</json:string></eissn><title>American Journal of Medical Genetics Part A</title><doi><json:string>10.1002/(ISSN)1552-4833</json:string></doi></host><publicationDate>2011</publicationDate><copyrightDate>2011</copyrightDate><doi><json:string>10.1002/ajmg.a.33779</json:string></doi><id>6EF8592CEE260E0778327051037E2588D86FF4A6</id><score>0.09320056</score><fulltext><json:item><original>true</original><mimetype>application/pdf</mimetype><extension>pdf</extension><uri>https://api.istex.fr/document/6EF8592CEE260E0778327051037E2588D86FF4A6/fulltext/pdf</uri></json:item><json:item><original>false</original><mimetype>application/zip</mimetype><extension>zip</extension><uri>https://api.istex.fr/document/6EF8592CEE260E0778327051037E2588D86FF4A6/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/6EF8592CEE260E0778327051037E2588D86FF4A6/fulltext/tei"><teiHeader><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece</title></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><availability><p>Copyright © 2010 Wiley‐Liss, Inc.</p></availability><date>2011</date></publicationStmt><notesStmt><note type="content">*How to Cite this Article: Héron B, Mikaeloff Y, Froissart R, Caridade G, Maire I, Caillaud C, Levade T, Chabrol B, Feillet F, Ogier H, Valayannopoulos V, Michelakakis H, Zafeiriou D, Lavery L, Wraith E, Danos O, Heard J‐M, Tardieu M. 2010. Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece. Am J Med Genet Part A 155:58–68.</note><note>Institut National de la Recherche Medicale</note><note>Institut Pasteur</note><note>Association Française contre les myopathies</note></notesStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece</title><author xml:id="author-1"><persName><forename type="first">Bénédicte</forename><surname>Héron</surname></persName><affiliation>Assistance Publique‐Hôpitaux de Paris, hôpital Trousseau, Centre de référence des maladies lysosomales, Paris, France</affiliation></author><author xml:id="author-2"><persName><forename type="first">Yann</forename><surname>Mikaeloff</surname></persName><affiliation>Assistance Publique‐Hôpitaux de Paris, hôpital Bicêtre, Université Paris‐Sud 11, INSERM U1012 et 1018, Le Kremlin‐Bicêtre, France</affiliation></author><author xml:id="author-3"><persName><forename type="first">Roseline</forename><surname>Froissart</surname></persName><affiliation>Hospices Civils de Lyon, Laboratoire des maladies héréditaires du métabolisme, Centre de Biologie Est, Bron, France</affiliation></author><author xml:id="author-4"><persName><forename type="first">Guillaume</forename><surname>Caridade</surname></persName><affiliation>Assistance Publique‐Hôpitaux de Paris, hôpital Bicêtre, Université Paris‐Sud 11, INSERM U1012 et 1018, Le Kremlin‐Bicêtre, France</affiliation></author><author xml:id="author-5"><persName><forename type="first">Irène</forename><surname>Maire</surname></persName><affiliation>Hospices Civils de Lyon, Laboratoire des maladies héréditaires du métabolisme, Centre de Biologie Est, Bron, France</affiliation></author><author xml:id="author-6"><persName><forename type="first">Catherine</forename><surname>Caillaud</surname></persName><affiliation>Assistance Publique‐Hôpitaux de Paris, hôpital Cochin‐Saint Vincent de Paul, Laboratoire de biochimie génétique, Université Paris Descartes, Paris, France</affiliation></author><author xml:id="author-7"><persName><forename type="first">Thierry</forename><surname>Levade</surname></persName><affiliation>Laboratoire de biochimie métabolique, Institut Fédératif de biologie, CHU, Toulouse, France</affiliation></author><author xml:id="author-8"><persName><forename type="first">Brigitte</forename><surname>Chabrol</surname></persName><affiliation>Centre de référence des maladies héréditaire du métabolisme, Service de neurologie pédiatrique, CHU Timone, Marseille, France</affiliation></author><author xml:id="author-9"><persName><forename type="first">François</forename><surname>Feillet</surname></persName><affiliation>Département de pédiatrie, Hôpital d'enfant, CHU, INSERM U954, centre de référence des maladies héréditaires du métabolisme, Vandoeuvre les Nancy, France</affiliation></author><author xml:id="author-10"><persName><forename type="first">Hélène</forename><surname>Ogier</surname></persName><affiliation>Assistance Publique‐Hôpitaux de Paris, hôpital Robert Debré, Centre de référence des maladies héréditaires du métabolisme, Paris, France</affiliation></author><author xml:id="author-11"><persName><forename type="first">Vassili</forename><surname>Valayannopoulos</surname></persName><affiliation>Assistance Publique‐Hôpitaux de Paris, hôpital Necker, Université Paris‐Descartes 5, INSERM U781, Centre de référence des maladies héréditaires du métabolisme, Paris, France</affiliation></author><author xml:id="author-12"><persName><forename type="first">Helen</forename><surname>Michelakakis</surname></persName><affiliation>Department of Enzymology and Cellular Function, Institute of Child Health, Athens, Greece</affiliation></author><author xml:id="author-13"><persName><forename type="first">Dimitrios</forename><surname>Zafeiriou</surname></persName><affiliation>First Department of Pediatrics, Aristotle University, 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It is considered heterogeneous with respect to prevalence, clinical presentation, biochemistry (four biochemical forms of the disease referred to as MPSIIIA, B, C, and D are known), and causative mutations. The perspective of therapeutic options emphasizes the need for better knowledge of MPSIII incidence and natural history. We performed parallel retrospective epidemiological studies of patients diagnosed with MSPIII in France (n = 128), UK (n = 126), and Greece (n = 20) from 1990 to 2006. Incidences ranged from 0.68 per 100,000 live‐births in France to 1.21 per 100,000 live‐births in UK. MPSIIIA, which predominates in France and UK, was absent in Greece, where most patients have MPSIIIB. The study confirmed the large allelic heterogeneity of MPSIIIA and MPSIIIB and detected several yet undescribed mutations. Analysis of clinical manifestations at diagnosis and over a 6–7 years follow‐up indicated that almost all patients, whatever the disease subtype, expressed neurological manifestations before the age of 5 years, including language acquisition delay, cognitive delay, and/or abnormal behavior. In contrast to relatively homogeneous early onset manifestations, disease progression showed significant variation depending on subtype and age at diagnosis. Different severities of disease progressions and different allele distribution between France and UK suggested that mutations are not equally deleterious, although genotype–phenotype correlation could not be established. 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href="urn-x:wiley:15524825:media:ajmg33779:AJMA_33779_sm_SupplTab1"></mediaResource><caption>Supplementry Table I: Patient Case Report form Sanfilippo Disease</caption></supportingInfoItem><supportingInfoItem><mediaResource alt="supporting information" href="urn-x:wiley:15524825:media:ajmg33779:AJMA_33779_sm_SupplTab2"></mediaResource><caption>Supplementry Table II: Mutations in the SGSH gene associated with MPSIIIA</caption></supportingInfoItem></supportingInformation><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>Sanfilippo syndrome, or mucopolysaccharidosis type III (MPSIII) is a lysosomal storage disease with predominant neurological manifestations in affected children. It is considered heterogeneous with respect to prevalence, clinical presentation, biochemistry (four biochemical forms of the disease referred to as MPSIIIA, B, C, and D are known), and causative mutations. The perspective of therapeutic options emphasizes the need for better knowledge of MPSIII incidence and natural history. We performed parallel retrospective epidemiological studies of patients diagnosed with MSPIII in France (n = 128), UK (n = 126), and Greece (n = 20) from 1990 to 2006. Incidences ranged from 0.68 per 100,000 live‐births in France to 1.21 per 100,000 live‐births in UK. MPSIIIA, which predominates in France and UK, was absent in Greece, where most patients have MPSIIIB. The study confirmed the large allelic heterogeneity of MPSIIIA and MPSIIIB and detected several yet undescribed mutations. Analysis of clinical manifestations at diagnosis and over a 6–7 years follow‐up indicated that almost all patients, whatever the disease subtype, expressed neurological manifestations before the age of 5 years, including language acquisition delay, cognitive delay, and/or abnormal behavior. In contrast to relatively homogeneous early onset manifestations, disease progression showed significant variation depending on subtype and age at diagnosis. Different severities of disease progressions and different allele distribution between France and UK suggested that mutations are not equally deleterious, although genotype–phenotype correlation could not be established. Notwithstanding the rapidity of further clinical deterioration, all MPSIII patients suffer early onset devastating neurological manifestations that deserve early treatment when available. © 2010 Wiley‐Liss, Inc.</p></abstract></abstractGroup></contentMeta><noteGroup><note xml:id="fn1"><p>How to Cite this Article: Héron B, Mikaeloff Y, Froissart R, Caridade G, Maire I, Caillaud C, Levade T, Chabrol B, Feillet F, Ogier H, Valayannopoulos V, Michelakakis H, Zafeiriou D, Lavery L, Wraith E, Danos O, Heard J‐M, Tardieu M. 2010. Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece. Am J Med Genet Part A 155:58–68.</p></note></noteGroup></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece</title></titleInfo><name type="personal"><namePart type="given">Bénédicte</namePart><namePart type="family">Héron</namePart><affiliation>Assistance Publique‐Hôpitaux de Paris, hôpital Trousseau, Centre de référence des maladies lysosomales, Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Yann</namePart><namePart type="family">Mikaeloff</namePart><affiliation>Assistance Publique‐Hôpitaux de Paris, hôpital Bicêtre, Université Paris‐Sud 11, INSERM U1012 et 1018, Le Kremlin‐Bicêtre, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Roseline</namePart><namePart type="family">Froissart</namePart><affiliation>Hospices Civils de Lyon, Laboratoire des maladies héréditaires du métabolisme, Centre de Biologie Est, Bron, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Guillaume</namePart><namePart type="family">Caridade</namePart><affiliation>Assistance Publique‐Hôpitaux de Paris, hôpital Bicêtre, Université Paris‐Sud 11, INSERM U1012 et 1018, Le Kremlin‐Bicêtre, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Irène</namePart><namePart type="family">Maire</namePart><affiliation>Hospices Civils de Lyon, Laboratoire des maladies héréditaires du métabolisme, Centre de Biologie Est, Bron, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Catherine</namePart><namePart type="family">Caillaud</namePart><affiliation>Assistance Publique‐Hôpitaux de Paris, hôpital Cochin‐Saint Vincent de Paul, Laboratoire de biochimie génétique, Université Paris Descartes, Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Thierry</namePart><namePart type="family">Levade</namePart><affiliation>Laboratoire de biochimie métabolique, Institut Fédératif de biologie, CHU, Toulouse, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Brigitte</namePart><namePart type="family">Chabrol</namePart><affiliation>Centre de référence des maladies héréditaire du métabolisme, Service de neurologie pédiatrique, CHU Timone, Marseille, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">François</namePart><namePart type="family">Feillet</namePart><affiliation>Département de pédiatrie, Hôpital d'enfant, CHU, INSERM U954, centre de référence des maladies héréditaires du métabolisme, Vandoeuvre les Nancy, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Hélène</namePart><namePart type="family">Ogier</namePart><affiliation>Assistance Publique‐Hôpitaux de Paris, hôpital Robert Debré, Centre de référence des maladies héréditaires du métabolisme, Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Vassili</namePart><namePart type="family">Valayannopoulos</namePart><affiliation>Assistance Publique‐Hôpitaux de Paris, hôpital Necker, Université Paris‐Descartes 5, INSERM U781, Centre de référence des maladies héréditaires du métabolisme, Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Helen</namePart><namePart type="family">Michelakakis</namePart><affiliation>Department of Enzymology and Cellular Function, Institute of Child Health, Athens, Greece</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Dimitrios</namePart><namePart type="family">Zafeiriou</namePart><affiliation>First Department of Pediatrics, Aristotle University, Thessaloniki, Greece</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Lucy</namePart><namePart type="family">Lavery</namePart><affiliation>Society for Mucopolysaccharide Diseases, Amersham, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Ed</namePart><namePart type="family">Wraith</namePart><affiliation>Genetic Medicine, St. Mary's Hospital, Oxford Road, Manchester, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Olivier</namePart><namePart type="family">Danos</namePart><affiliation>Assistance Publique‐Hôpitaux de Paris, hôpital Necker, Université Paris‐Descartes 5, INSERM U781, Centre de référence des maladies héréditaires du métabolisme, Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Jean‐Michel</namePart><namePart type="family">Heard</namePart><affiliation>Département de Neuroscience, Institut Pasteur, Paris, France</affiliation><affiliation>INSERM U622, Institut Pasteur, Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Marc</namePart><namePart type="family">Tardieu</namePart><affiliation>Assistance Publique‐Hôpitaux de Paris, hôpital Bicêtre, Université Paris‐Sud 11, INSERM U1012 et 1018, Le Kremlin‐Bicêtre, France</affiliation><affiliation>Neurologie pédiatrique, Hôpital Bicêtre, 94275 Le Kremlin Bicetre Cedex, France.</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="article" displayLabel="article"></genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">Hoboken</placeTerm></place><dateIssued encoding="w3cdtf">2011-01</dateIssued><dateCaptured encoding="w3cdtf">2010-04-14</dateCaptured><dateValid encoding="w3cdtf">2010-09-30</dateValid><copyrightDate encoding="w3cdtf">2011</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType><extent unit="tables">5</extent><extent unit="references">50</extent><extent unit="words">9274</extent></physicalDescription><abstract lang="en">Sanfilippo syndrome, or mucopolysaccharidosis type III (MPSIII) is a lysosomal storage disease with predominant neurological manifestations in affected children. It is considered heterogeneous with respect to prevalence, clinical presentation, biochemistry (four biochemical forms of the disease referred to as MPSIIIA, B, C, and D are known), and causative mutations. The perspective of therapeutic options emphasizes the need for better knowledge of MPSIII incidence and natural history. We performed parallel retrospective epidemiological studies of patients diagnosed with MSPIII in France (n = 128), UK (n = 126), and Greece (n = 20) from 1990 to 2006. Incidences ranged from 0.68 per 100,000 live‐births in France to 1.21 per 100,000 live‐births in UK. MPSIIIA, which predominates in France and UK, was absent in Greece, where most patients have MPSIIIB. The study confirmed the large allelic heterogeneity of MPSIIIA and MPSIIIB and detected several yet undescribed mutations. Analysis of clinical manifestations at diagnosis and over a 6–7 years follow‐up indicated that almost all patients, whatever the disease subtype, expressed neurological manifestations before the age of 5 years, including language acquisition delay, cognitive delay, and/or abnormal behavior. In contrast to relatively homogeneous early onset manifestations, disease progression showed significant variation depending on subtype and age at diagnosis. Different severities of disease progressions and different allele distribution between France and UK suggested that mutations are not equally deleterious, although genotype–phenotype correlation could not be established. Notwithstanding the rapidity of further clinical deterioration, all MPSIII patients suffer early onset devastating neurological manifestations that deserve early treatment when available. © 2010 Wiley‐Liss, Inc.</abstract><note type="content">*How to Cite this Article: Héron B, Mikaeloff Y, Froissart R, Caridade G, Maire I, Caillaud C, Levade T, Chabrol B, Feillet F, Ogier H, Valayannopoulos V, Michelakakis H, Zafeiriou D, Lavery L, Wraith E, Danos O, Heard J‐M, Tardieu M. 2010. Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece. Am J Med Genet Part A 155:58–68.</note><note type="funding">Institut National de la Recherche Medicale</note><note type="funding">Institut Pasteur</note><note type="funding">Association Française contre les myopathies</note><subject lang="en"><genre>keywords</genre><topic>mucopolysaccharidosis</topic><topic>MPSIII</topic><topic>sanfilippo</topic><topic>incidence</topic><topic>natural history</topic></subject><relatedItem type="host"><titleInfo><title>American Journal of Medical Genetics Part A</title></titleInfo><titleInfo type="abbreviated"><title>Am. J. Med. Genet.</title></titleInfo><genre type="journal">journal</genre><note type="content"> Additional supporting information may be found in the online version of this article.Supporting Info Item: Supplementry Table I: Patient Case Report form Sanfilippo Disease - Supplementry Table II: Mutations in the SGSH gene associated with MPSIIIA - </note><subject><genre>article-category</genre><topic>Research Article</topic></subject><identifier type="ISSN">1552-4825</identifier><identifier type="eISSN">1552-4833</identifier><identifier type="DOI">10.1002/(ISSN)1552-4833</identifier><identifier type="PublisherID">AJMG</identifier><part><date>2011</date><detail type="volume"><caption>vol.</caption><number>155</number></detail><detail type="issue"><caption>no.</caption><number>1</number></detail><extent unit="pages"><start>58</start><end>68</end><total>11</total></extent></part></relatedItem><relatedItem type="preceding"><titleInfo><title>American Journal of Medical Genetics</title></titleInfo><identifier type="ISSN">0148-7299</identifier><identifier type="ISSN">1096-8628</identifier><part><date point="end">2004</date></part></relatedItem><identifier type="istex">6EF8592CEE260E0778327051037E2588D86FF4A6</identifier><identifier type="DOI">10.1002/ajmg.a.33779</identifier><identifier type="ArticleID">AJMG33779</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2010 Wiley‐Liss, Inc.</accessCondition><recordInfo><recordContentSource>WILEY</recordContentSource><recordOrigin>Wiley Subscription Services, Inc., A Wiley Company</recordOrigin></recordInfo></mods></metadata><enrichments><json:item><type>multicat</type><uri>https://api.istex.fr/document/6EF8592CEE260E0778327051037E2588D86FF4A6/enrichments/multicat</uri></json:item></enrichments><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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