Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece
Identifieur interne : 001967 ( Istex/Curation ); précédent : 001966; suivant : 001968Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece
Auteurs : Bénédicte Héron [France] ; Yann Mikaeloff [France] ; Roseline Froissart [France] ; Guillaume Caridade [France] ; Irène Maire [France] ; Catherine Caillaud [France] ; Thierry Levade [France] ; Brigitte Chabrol [France] ; François Feillet [France] ; Hélène Ogier [France] ; Vassili Valayannopoulos [France] ; Helen Michelakakis [Grèce] ; Dimitrios Zafeiriou [Grèce] ; Lucy Lavery [Royaume-Uni] ; Ed Wraith [Royaume-Uni] ; Olivier Danos [France] ; Jean-Michel Heard [France] ; Marc Tardieu [France]Source :
- American Journal of Medical Genetics Part A [ 1552-4825 ] ; 2011-01.
English descriptors
- Teeft :
- Abnormal behavior, Allele, Allelic heterogeneity, American journal, Annual incidence, Beesley, Biochemical diagnosis, Case population, Characteristic events, Clin genet, Clinical manifestations, Clinical presentation, Clinical variability, Coarse features, Cognitive, Cognitive delay, Data collection, Diagnosis, Disease progression, Disease severity, Disease subtype, Early diagnosis, Early language, Early treatment, Eventsa, Genet, Genetics, Grant sponsor, Heterogeneity, Hopwood, Iiia, Iiib, Incidence, Information table, Institut pasteur, Kamp, Language delay, Lysosomal, Lysosomal storage diseases, Maladies hereditaires, Maladies lysosomales, Malady, Median, Medical genetics part, Metab, Molecular defects, Mpsiii, Mpsiii patients, Mpsiii subtypes, Mpsiiia, Mpsiiia patients, Mpsiiib, Mpsiiib patients, Mpsiiic, Mpsiiic patients, Mpsiiid, Mucopolysaccharidosis, Mucopolysaccharidosis type, Mucopolysaccharidosis type iiia, Multiplex, Multiplex families, Multiplex family, Mutat, Mutation, Natural history, Neurologie pediatrique, Novel mutations, Nursery school, Online, Online version, Patient population, Poorthuis, Progression, Range years, Relational interaction, Residual, Residual enzyme activity, Residual sgsh, Sgsh, Subtypes, Syndrome, Syndrome type, Weber.
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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wicri:level="1"><mods:affiliation>Genetic Medicine, St. Mary's Hospital, Oxford Road, Manchester, UK</mods:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Genetic Medicine, St. Mary's Hospital, Oxford Road, Manchester</wicri:regionArea></affiliation></author><author><name sortKey="Danos, Olivier" sort="Danos, Olivier" uniqKey="Danos O" first="Olivier" last="Danos">Olivier Danos</name><affiliation wicri:level="1"><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><country xml:lang="fr">France</country><wicri:regionArea>Assistance Publique‐Hôpitaux de Paris, hôpital Necker, Université Paris‐Descartes 5, INSERM U781, Centre de référence des maladies héréditaires du métabolisme, Paris</wicri:regionArea></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 wicri:level="1"><mods:affiliation>Département de Neuroscience, Institut Pasteur, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Département de Neuroscience, Institut Pasteur, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>INSERM U622, Institut Pasteur, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM U622, Institut Pasteur, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Tardieu, Marc" sort="Tardieu, Marc" uniqKey="Tardieu M" first="Marc" last="Tardieu">Marc Tardieu</name><affiliation wicri:level="1"><mods:affiliation>Assistance Publique‐Hôpitaux de Paris, hôpital Bicêtre, Université Paris‐Sud 11, INSERM U1012 et 1018, Le Kremlin‐Bicêtre, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Assistance Publique‐Hôpitaux de Paris, hôpital Bicêtre, Université Paris‐Sud 11, INSERM U1012 et 1018, Le Kremlin‐Bicêtre</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>E-mail: marc.tardieu@bct.aphp.fr</mods:affiliation><country wicri:rule="url">France</country></affiliation><affiliation wicri:level="1"><mods:affiliation>Correspondence address: Neurologie pédiatrique, Hôpital Bicêtre, 94275 Le Kremlin Bicetre Cedex, France.</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Correspondence address: Neurologie pédiatrique, Hôpital Bicêtre, 94275 Le Kremlin Bicetre Cedex</wicri:regionArea></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/ark:/67375/WNG-P9NSP5C9-H/fulltext.pdf</idno><idno type="wicri:Area/Istex/Corpus">001987</idno><idno 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uniqKey="Mikaeloff Y" first="Yann" last="Mikaeloff">Yann Mikaeloff</name><affiliation wicri:level="1"><mods:affiliation>Assistance Publique‐Hôpitaux de Paris, hôpital Bicêtre, Université Paris‐Sud 11, INSERM U1012 et 1018, Le Kremlin‐Bicêtre, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Assistance Publique‐Hôpitaux de Paris, hôpital Bicêtre, Université Paris‐Sud 11, INSERM U1012 et 1018, Le Kremlin‐Bicêtre</wicri:regionArea></affiliation></author><author><name sortKey="Froissart, Roseline" sort="Froissart, Roseline" uniqKey="Froissart R" first="Roseline" last="Froissart">Roseline Froissart</name><affiliation wicri:level="1"><mods:affiliation>Hospices Civils de Lyon, Laboratoire des maladies héréditaires du métabolisme, Centre de Biologie Est, Bron, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Hospices Civils de Lyon, Laboratoire des maladies héréditaires du métabolisme, Centre de Biologie Est, Bron</wicri:regionArea></affiliation></author><author><name sortKey="Caridade, Guillaume" sort="Caridade, Guillaume" uniqKey="Caridade G" first="Guillaume" last="Caridade">Guillaume Caridade</name><affiliation wicri:level="1"><mods:affiliation>Assistance Publique‐Hôpitaux de Paris, hôpital Bicêtre, Université Paris‐Sud 11, INSERM U1012 et 1018, Le Kremlin‐Bicêtre, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Assistance Publique‐Hôpitaux de Paris, hôpital Bicêtre, Université Paris‐Sud 11, INSERM U1012 et 1018, Le Kremlin‐Bicêtre</wicri:regionArea></affiliation></author><author><name sortKey="Maire, Irene" sort="Maire, Irene" uniqKey="Maire I" first="Irène" last="Maire">Irène Maire</name><affiliation wicri:level="1"><mods:affiliation>Hospices Civils de Lyon, Laboratoire des maladies héréditaires du métabolisme, Centre de Biologie Est, Bron, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Hospices Civils de Lyon, Laboratoire des maladies héréditaires du métabolisme, Centre de Biologie Est, Bron</wicri:regionArea></affiliation></author><author><name sortKey="Caillaud, Catherine" sort="Caillaud, Catherine" uniqKey="Caillaud C" first="Catherine" last="Caillaud">Catherine Caillaud</name><affiliation wicri:level="1"><mods:affiliation>Assistance Publique‐Hôpitaux de Paris, hôpital Cochin‐Saint Vincent de Paul, Laboratoire de biochimie génétique, Université Paris Descartes, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Assistance Publique‐Hôpitaux de Paris, hôpital Cochin‐Saint Vincent de Paul, Laboratoire de biochimie génétique, Université Paris Descartes, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Levade, Thierry" sort="Levade, Thierry" uniqKey="Levade T" first="Thierry" last="Levade">Thierry Levade</name><affiliation wicri:level="1"><mods:affiliation>Laboratoire de biochimie métabolique, Institut Fédératif de biologie, CHU, Toulouse, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratoire de biochimie métabolique, Institut Fédératif de biologie, CHU, Toulouse</wicri:regionArea></affiliation></author><author><name sortKey="Chabrol, Brigitte" sort="Chabrol, Brigitte" uniqKey="Chabrol B" first="Brigitte" last="Chabrol">Brigitte Chabrol</name><affiliation wicri:level="1"><mods:affiliation>Centre de référence des maladies héréditaire du métabolisme, Service de neurologie pédiatrique, CHU Timone, Marseille, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Centre de référence des maladies héréditaire du métabolisme, Service de neurologie pédiatrique, CHU Timone, Marseille</wicri:regionArea></affiliation></author><author><name sortKey="Feillet, Francois" sort="Feillet, Francois" uniqKey="Feillet F" first="François" last="Feillet">François Feillet</name><affiliation wicri:level="1"><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><country xml:lang="fr">France</country><wicri:regionArea>Département de pédiatrie, Hôpital d'enfant, CHU, INSERM U954, centre de référence des maladies héréditaires du métabolisme, Vandoeuvre les Nancy</wicri:regionArea></affiliation></author><author><name sortKey="Ogier, Helene" sort="Ogier, Helene" uniqKey="Ogier H" first="Hélène" last="Ogier">Hélène Ogier</name><affiliation wicri:level="1"><mods:affiliation>Assistance Publique‐Hôpitaux de Paris, hôpital Robert Debré, Centre de référence des maladies héréditaires du métabolisme, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Assistance Publique‐Hôpitaux de Paris, hôpital Robert Debré, Centre de référence des maladies héréditaires du métabolisme, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Valayannopoulos, Vassili" sort="Valayannopoulos, Vassili" uniqKey="Valayannopoulos V" first="Vassili" last="Valayannopoulos">Vassili Valayannopoulos</name><affiliation wicri:level="1"><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><country xml:lang="fr">France</country><wicri:regionArea>Assistance Publique‐Hôpitaux de Paris, hôpital Necker, Université Paris‐Descartes 5, INSERM U781, Centre de référence des maladies héréditaires du métabolisme, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Michelakakis, Helen" sort="Michelakakis, Helen" uniqKey="Michelakakis H" first="Helen" last="Michelakakis">Helen Michelakakis</name><affiliation wicri:level="1"><mods:affiliation>Department of Enzymology and Cellular Function, Institute of Child Health, Athens, Greece</mods:affiliation><country xml:lang="fr">Grèce</country><wicri:regionArea>Department of Enzymology and Cellular Function, Institute of Child Health, Athens</wicri:regionArea></affiliation></author><author><name sortKey="Zafeiriou, Dimitrios" sort="Zafeiriou, Dimitrios" uniqKey="Zafeiriou D" first="Dimitrios" last="Zafeiriou">Dimitrios Zafeiriou</name><affiliation wicri:level="1"><mods:affiliation>First Department of Pediatrics, Aristotle University, Thessaloniki, Greece</mods:affiliation><country xml:lang="fr">Grèce</country><wicri:regionArea>First Department of Pediatrics, Aristotle University, Thessaloniki</wicri:regionArea></affiliation></author><author><name sortKey="Lavery, Lucy" sort="Lavery, Lucy" uniqKey="Lavery L" first="Lucy" last="Lavery">Lucy Lavery</name><affiliation wicri:level="1"><mods:affiliation>Society for Mucopolysaccharide Diseases, Amersham, UK</mods:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Society for Mucopolysaccharide Diseases, Amersham</wicri:regionArea></affiliation></author><author><name sortKey="Wraith, Ed" sort="Wraith, Ed" uniqKey="Wraith E" first="Ed" last="Wraith">Ed Wraith</name><affiliation wicri:level="1"><mods:affiliation>Genetic Medicine, St. Mary's Hospital, Oxford Road, Manchester, UK</mods:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Genetic Medicine, St. Mary's Hospital, Oxford Road, Manchester</wicri:regionArea></affiliation></author><author><name sortKey="Danos, Olivier" sort="Danos, Olivier" uniqKey="Danos O" first="Olivier" last="Danos">Olivier Danos</name><affiliation wicri:level="1"><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><country xml:lang="fr">France</country><wicri:regionArea>Assistance Publique‐Hôpitaux de Paris, hôpital Necker, Université Paris‐Descartes 5, INSERM U781, Centre de référence des maladies héréditaires du métabolisme, Paris</wicri:regionArea></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 wicri:level="1"><mods:affiliation>Département de Neuroscience, Institut Pasteur, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Département de Neuroscience, Institut Pasteur, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>INSERM U622, Institut Pasteur, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM U622, Institut Pasteur, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Tardieu, Marc" sort="Tardieu, Marc" uniqKey="Tardieu M" first="Marc" last="Tardieu">Marc Tardieu</name><affiliation wicri:level="1"><mods:affiliation>Assistance Publique‐Hôpitaux de Paris, hôpital Bicêtre, Université Paris‐Sud 11, INSERM U1012 et 1018, Le Kremlin‐Bicêtre, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Assistance Publique‐Hôpitaux de Paris, hôpital Bicêtre, Université Paris‐Sud 11, INSERM U1012 et 1018, Le Kremlin‐Bicêtre</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>E-mail: marc.tardieu@bct.aphp.fr</mods:affiliation><country wicri:rule="url">France</country></affiliation><affiliation wicri:level="1"><mods:affiliation>Correspondence address: Neurologie pédiatrique, Hôpital Bicêtre, 94275 Le Kremlin Bicetre Cedex, France.</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Correspondence address: Neurologie pédiatrique, Hôpital Bicêtre, 94275 Le Kremlin Bicetre Cedex</wicri:regionArea></affiliation></author></analytic><monogr></monogr><series><title level="j" type="main">American Journal of Medical Genetics Part A</title><title level="j" type="alt">AMERICAN JOURNAL OF MEDICAL GENETICS</title><idno type="ISSN">1552-4825</idno><idno type="eISSN">1552-4833</idno><imprint><biblScope unit="vol">155</biblScope><biblScope unit="issue">1</biblScope><biblScope unit="page" from="58">58</biblScope><biblScope unit="page" to="68">68</biblScope><biblScope unit="page-count">11</biblScope><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2011-01">2011-01</date></imprint><idno type="ISSN">1552-4825</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">1552-4825</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="Teeft" xml:lang="en"><term>Abnormal behavior</term><term>Allele</term><term>Allelic heterogeneity</term><term>American journal</term><term>Annual incidence</term><term>Beesley</term><term>Biochemical diagnosis</term><term>Case population</term><term>Characteristic events</term><term>Clin genet</term><term>Clinical manifestations</term><term>Clinical presentation</term><term>Clinical variability</term><term>Coarse features</term><term>Cognitive</term><term>Cognitive delay</term><term>Data collection</term><term>Diagnosis</term><term>Disease progression</term><term>Disease severity</term><term>Disease subtype</term><term>Early diagnosis</term><term>Early language</term><term>Early treatment</term><term>Eventsa</term><term>Genet</term><term>Genetics</term><term>Grant sponsor</term><term>Heterogeneity</term><term>Hopwood</term><term>Iiia</term><term>Iiib</term><term>Incidence</term><term>Information table</term><term>Institut pasteur</term><term>Kamp</term><term>Language delay</term><term>Lysosomal</term><term>Lysosomal storage diseases</term><term>Maladies hereditaires</term><term>Maladies lysosomales</term><term>Malady</term><term>Median</term><term>Medical genetics part</term><term>Metab</term><term>Molecular defects</term><term>Mpsiii</term><term>Mpsiii patients</term><term>Mpsiii subtypes</term><term>Mpsiiia</term><term>Mpsiiia patients</term><term>Mpsiiib</term><term>Mpsiiib patients</term><term>Mpsiiic</term><term>Mpsiiic patients</term><term>Mpsiiid</term><term>Mucopolysaccharidosis</term><term>Mucopolysaccharidosis type</term><term>Mucopolysaccharidosis type iiia</term><term>Multiplex</term><term>Multiplex families</term><term>Multiplex family</term><term>Mutat</term><term>Mutation</term><term>Natural history</term><term>Neurologie pediatrique</term><term>Novel mutations</term><term>Nursery school</term><term>Online</term><term>Online version</term><term>Patient population</term><term>Poorthuis</term><term>Progression</term><term>Range years</term><term>Relational interaction</term><term>Residual</term><term>Residual enzyme activity</term><term>Residual sgsh</term><term>Sgsh</term><term>Subtypes</term><term>Syndrome</term><term>Syndrome type</term><term>Weber</term></keywords></textClass></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></record>Pour manipuler ce document sous Unix (Dilib)
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