Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece

American Journal of Medical Genetics, Part A - Tập 155 Số 1 - Trang 58-68 - 2011
Bénédicte Heron1, Yann Mikaeloff2, Roseline Froissart3, Guillaume Caridade2, I Maire3, Catherine Caillaud4, Thierry Levade5, B. Chabrol6, François Feillet7, H. Ogier8, Vassili Valayannopoulos9, Helen Michelakakis10, Dimitrios Zafeiriou11, Lawrence A. Lavery12, Ed Wraith13, Olivier Danos9, Jean‐Michel Heard14,15, Marc Tardieu2
1Assistance Publique-Hôpitaux de Paris, hôpital Trousseau, Centre de référence des maladies lysosomales, Paris, France
2Assistance Publique-Hôpitaux de Paris, hôpital Bicêtre, Université Paris-Sud 11, INSERM U1012 et 1018, Le Kremlin-Bicêtre, France
3Hospices Civils de Lyon, Laboratoire des maladies héréditaires du métabolisme, Centre de Biologie Est, Bron, France
4Assistance Publique-Hôpitaux de Paris, hôpital Cochin-Saint Vincent de Paul, Laboratoire de biochimie génétique, Université Paris Descartes, Paris, France
5Laboratoire de biochimie métabolique, Institut Fédératif de biologie, CHU, Toulouse, France
6Centre de référence des maladies héréditaire du métabolisme, Service de neurologie pédiatrique, CHU Timone, Marseille, France
7Département de pédiatrie, Hôpital d'enfant, CHU, INSERM U954, centre de référence des maladies héréditaires du métabolisme, Vandoeuvre les Nancy, France
8Assistance Publique-Hôpitaux de Paris, hôpital Robert Debré, Centre de référence des maladies héréditaires du métabolisme, Paris, France
9Assistance Publique-Hôpitaux de Paris, hôpital Necker, Université Paris-Descartes 5, INSERM U781, Centre de référence des maladies héréditaires du métabolisme, Paris, France
10Department of Enzymology and Cellular Function, Institute of Child Health, Athens, Greece
11First Department of Pediatrics, Aristotle University, Thessaloniki, Greece.
12Society for Mucopolysaccharide Diseases, Amersham, UK
13Genetic Medicine, St. Mary's Hospital, Oxford Road, Manchester, UK
14Département de Neuroscience, Institut pasteur, Paris, France
15INSERM U622, Institut Pasteur, Paris, France

Tóm tắt

AbstractSanfilippo 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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American Journal of Medical Genetics, Part A

Tập 155 Số 1

58-68

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