Mortality statistics and their contribution to improving the knowledge of rare diseases epidemiology: The example of hereditary ataxia in Europe

Advances in Experimental Medicine and Biology

Volumn 1031, Issue , 2017, Pages 521-533

  Arias Merino, Greta ^a   Sánchez Díaz, Germán ^a   Villaverde Hueso, Ana ^a,b   Posada de la Paz, Manuel ^c   Alonso Ferreira, Verónica ^a,b  

^a Instituto de Salud Carlos III   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^c INSTITUTO DE SALUD CARLOS III   (Spain)

Author keywords

Ataxia; Epidemiology; Mortality rates; Public health indicators; Rare diseases; Registry

Indexed keywords

COST; DISEASE BURDEN; EUROPE; GEOGRAPHIC DISTRIBUTION; GEOGRAPHY; HEREDITARY ATAXIA; HISTORY; KNOWLEDGE; MORTALITY; MORTALITY RISK; PREVALENCE; PRIORITY JOURNAL; RARE DISEASE; REGISTER; SURVIVAL; WORLD HEALTH ORGANIZATION; AGE DISTRIBUTION; EPIDEMIOLOGY; FEMALE; HUMAN; MALE; PROGNOSIS; PUBLIC HEALTH; RISK ASSESSMENT; RISK FACTOR; SEX RATIO; SPINOCEREBELLAR DEGENERATION; TIME FACTOR;

AGE DISTRIBUTION; EUROPE; FEMALE; HUMANS; MALE; PROGNOSIS; PUBLIC HEALTH; RARE DISEASES; REGISTRIES; RISK ASSESSMENT; RISK FACTORS; SEX DISTRIBUTION; SPINOCEREBELLAR DEGENERATIONS; TIME FACTORS;

EID: 85037669784     PISSN: 00652598     EISSN: 22148019     Source Type: Book Series    
DOI: 10.1007/978-3-319-67144-4_28     Document Type: Chapter

References (58)

1. Ahmad OB, Boschi-Pinto C, Lopez AD, Murray CJ, Lozano R, et al (2001) Age standardization of rates: a new WHO standard. World Health Organization, Geneva. Available from: http:// www.who.int/entity/healthinfo/paper31.pdf. Accessed Sept 2016
2. Alonso V, Villaverde-Hueso A, Hens M, Morales-Piga A, Abaitua I, Posada de la Paz M (2013) Epidemiology of hereditary ataxias in Spain: hospital discharge registry and population-based mortality study. Neuroepidemiology 41(1): 13-19
3. Alonso V, Villaverde-Hueso A, Hens M, Morales-Piga A, Abaitua I, Posada de la Paz M (2011) Public health research on rare diseases. Georgian Med News 193: 11-16
4. Avellaneda A, Izquierdo M, Luengo S, Arenas J, Ramón JR (2006) Necesidades de formación en enfermedades raras para atención primaria. Atención Primaria 38(6): 345-348
5. Aymé S (2003) La Revue De reference infirmiere. Soins 672: 46-47
6. Baldovino S, Moliner AM, Taruscio D, Daina E, Roccatello D (2016) Rare diseases in Europe: from a wide to a local perspective. Isr Med Assoc J 18(6): 359-363
7. Causes of death statistics - Statistics Explained. Available from: http://ec.europa.eu/eurostat/ statistics-explained/index.php/Causes_of_death_statistics. Accessed Sept 2016
8. Coi A, Santoro M, Villaverde-Hueso A, Lipucci M, Gainotti S, Taruscio D, Bianchi F (2016) The quality of rare disease registries: evaluation and characterization. Public Health Genomics 19(2): 108-115
9. de Araújo MA, Raposo M, Kazachkova N, Vasconcelos J, Kay T et al (2016) Trends in the epidemiology of spinocerebellar ataxia type 3/Machado-Joseph disease in the Azores Islands, Portugal. JSM Brain Sci 1(1): 1001
10. Deaths (AIHW). Available from: http://www.aihw.gov.au/deaths/. Accessed Nov 2016
11. Dichgans M, Schols L, Herzog J, Stevanin G, Weirich-Schwaiger H, Rouleau G, Gasser T (1999) Spinocerebellar ataxia type 6: Evidence for a strong founder effect among German families. Neurology 52(4): 849-849
12. European Register on Cushing’s Syndrome - ERCUSYN. Available from: http://www.lb.de/ ercusyn/. Accessed Nov 2016
13. European detailed mortality database (DMDB). Available from: http://www.euro.who.int/ en/data-and-evidence/databases/european-detailed-mortality-database-dmdb2. Accessed Oct 2016
14. Forrest CB, Bartek RJ, RubinsteinY GSC (2011) The case for a global rare-diseases registry. Lancet 377(9771): 1057-1059
15. France | EUCERD. Available from: http://www.eucerd.eu/?page_id=540. Accessed Nov 2016
16. Groft SC, Posada de la Paz M (2010) Rare diseases - avoiding misperceptions and establishing realities: the need for reliable epidemiological data. Adv Exp Med Biol 686: 3-14
17. Governance. Available from: http://www.rarediseasesinternational.org/governance/. Accessed Nov 2016
18. Gundersen L (2000) Mapping it out: using atlases to detect patterns in health care, disease, and mortality. Ann Intern Med 133(2): 161-164
19. Infante J, Combarros O, Volpini V, Corral J, Llorca J, Berciano J (2005) Autosomal dominant cerebellar ataxias in Spain: molecular and clinical correlations, prevalence estimation and survival analysis. Acta Neurol Scand 111(6): 391-399
20. Institute of Medicine (US) Committee on Accelerating Rare Diseases Research and Orphan Product Development; In: Field MJ, Boat TF (eds) Rare diseases and orphan products: accelerating research and development. National Academies Press (US), Washington, DC. 2010. Available from: https://www.ncbi.nlm.nih.gov/books/NBK56189. Accessed Sept 2016
21. Jackson JM, Crider KS, Olney RS (2010) Population-based surveillance for rare congenital and inherited disorders: models and challenges. Adv Exp Med Biol 686: 133-150
22. Joinpoint Regression Program - Surveillance Research Program. Available from: http://surveillance. cancer.gov/joinpoint/. Accessed Jan 2016
23. Jonasson J, Juvonen V, Sistonen P, Ignatius J, Johansson D, Björck EJ et al (2000) Evidence for a common Spinocerebellar ataxia type 7(SCA 7) founder mutation in Scandinavia. Eur J Hum Genet 8(12): 918-922
24. Koutsis G, Kladi A, Karadima G, Houlden H, Wood NW, Christodoulou K, Panas M (2014) Friedreich’s ataxia and other hereditary ataxias in Greece: an 18-year perspective. J Neurol Sci 336(1-2): 87-92
25. Leone M, Chandra V, Schoenberg BS (1989) Patterns of mortality from hereditary ataxias in the United States, 1971 and 1973-1978. Neuroepidemiology 8(4): 193-199
26. Lima M, Smith MT, Silva C, Abade A, Mayer FM, Coutinho P (2001) Natural selection at the MJD locus: phenotypic diversity, survival and fertility among Machado-Joseph disease patients from the Azores. J Biosoc Sci 33(3): 361-373
27. Lo Monaco A, Bruschi M, La Corte R, Volpinari S, Trotta F (2011) Epidemiology of systemic sclerosis in a district of northern Italy. Clin Exp Rheumatol 29(2 Suppl 65): S10-S14
28. Loane M, Dolk H, Kelly A, Teljeur C, Greenlees R, Densem J, EUROCAT Working Group (2011) Paper 4: EUROCAT statistical monitoring: identification and investigation of ten year trends of congenital anomalies in Europe. Birth Defects Res A Clin Mol Teratol 91(Suppl 1): S31-S43
29. Lynch DR, Farmer JM, Wilson RB (2007) Mortality in Friedreich’s Ataxia. Texas Heart Inst J 34(4): 502-503
30. Monin M, Tezenas du Montcel S, Marelli C, Cazeneuve C, Charles P, Tallaksen C, Durr A (2015) Survival and severity in dominant cerebellar ataxias. Ann Clin Transl Neurol 2(2): 202-207
31. Montserrat A, Waligóra J (2013) The European Union Policy in the field of rare diseases. Public Health Genomics 16(6): 268-277
32. Mortality and life expectancy statistics - Statistics Explained. Available from: http://ec.europa. eu/eurostat/statistics-explained/index.php/Mortality_and_life_expectancy_statistics#Life_ expectancy_is_increasing. Accessed Aug 2016
33. OECD (2014) Health spending. OECD Publishing. Available from: http://www.oecd-ilibrary. org/social-issues-migration-health/health-spending/indicator/english_8643de7e-en. Accessed Aug 2016
34. Pace M, Cayotte E, Agafitei L, Zupanic T, Wojtyniak B, Gissler M Eurostat (2013) Revision of the European standard population: report of Eurostat’s task force: 2013 edition. Publications Office, Luxembourg. Retrieved from http://dx.publications.europa.eu/10.2785/11470
35. Posada de la Paz M, Villaverde-Hueso A, Alonso V, János S, Zurriaga O, Pollán M, Abaitua-Borda I (2010) Rare diseases epidemiology research. Adv Exp Med Biol 686: 17-39
36. Regidor E, de Mateo S, Rodríguez C, Gutiérrez-Fisac JL (1993) Evaluación de la significación estadística y cálculo del intervalo de confianza de la razón de mortalidad estandarizada. Gac Sanit 7(38): 237-243
37. Revision of the International Classification of Diseases (ICD). Ensuring codification and classification of rare diseases - European Commission. Available from: http://ec.europa.eu/health/ rare_diseases/coding/index_en.htm. Accessed Nov 2016
38. Riess O, Laccone FA, Gispert S, Schöls L, Zühlke C, Vieira-Saecker AM, Auburger G (1997) SCA2 trinucleotide expansion in German SCA patients. Neurogenetics 1(1): 59-64
39. Romeo G, Menozzi P, Ferlini A, Fadda S, Di Donato S, Uziel G, Campanella G (1983) Incidence of Friedreich ataxia in Italy estimated from consanguineous marriages. Am J Hum Genet 35(3): 523-529
40. Roy AJ, Van den Bergh P, Van Damme P, Doggen K, Van Casteren V, Scientific Committee BNMDR (2015) Early stages of building a rare disease registry, methods and 2010 data from the Belgian Neuromuscular Disease Registry (BNMDR). Acta Neurol Belg 115(2): 97-104
41. Schöls L, Gispert S, Vorgerd M, Menezes AM, Blanke P, Auburger G, Riess O (1997) Spinocerebellar ataxia type 2. Genotype and phenotype in German kindreds. Arch Neurol 54(9): 1073-1080
42. Schöls L, Szymanski S, Peters S, Przuntek H, Epplen JT, Hardt C, Riess O (2000) Genetic background of apparently idiopathic sporadic cerebellar ataxia. Hum Genet 107(2): 132-137
43. Sequeiros J, Martindale J, Seneca S, Giunti P, Kämäräinen O, Volpini V, European Molecular Quality Genetics Network (2010) EMQN best practice guidelines for molecular genetic testing of SCAs. Eur J Hum Genet 18(11): 1173-1176
44. Sequeiros J, Martins S, Silveira I (2011) Epidemiology and population genetics of degenerative ataxias. Handb Clin Neurol 103: 227-251
45. Supporting rare diseases registries and providing a European Platform for rare diseases registration - European Commission. Available from: http://ec.europa.eu/health/rare_diseases/ policy/registries/index_en.htm. Accessed Nov 2016
46. Taruscio D, Mollo E, Gainotti S, Posada de la Paz M, Bianchi F, Vittozzi L (2014) The EPIRARE proposal of a set of indicators and common data elements for the European platform for rare disease registration. Arch Public Health = Archives Belges De Santé Publique 1(35): 72
47. Taruscio D, Gentile AE, De Santis M, Ferrelli RM, Posada de la Paz M, Hens M, Jessop E (2013) EUROPLAN: a project to support the development of national plans on rare diseases in Europe. Public Health Genomics 16(6): 278-287
48. Taruscio D, Trama A, Stefanov R (2007) Tackling rare diseases at European level: why do we need a harmonized framework? Folia Med 49(1-2): 59-67
49. Taruscio D, Vittozzi L, Choquet R, Heimdal K, Iskrov G, Kodra Y, Van Oyen H (2015) National registries of rare diseases in Europe: an overview of the current situation and experiences. Public Health Genomics 18(1): 20-25
50. Valdez R, Ouyang L, Bolen J (2016) Public Health and Rare Diseases: Oxymoron No More. Prev Chronic Dis 13: E05
51. van de Warrenburg BPC, Sinke RJ, Verschuuren-Bemelmans CC, Scheffer H, Brunt ER, Ippel PF, Kremer HPH (2002) Spinocerebellar ataxias in the Netherlands: prevalence and age at onset variance analysis. Neurology 58(5): 702-708
52. Vankan P (2013) Prevalence gradients of Friedreich’s Ataxia and R1b haplotype in Europe co-localize, suggesting a common Palaeolithic origin in the Franco-Cantabrian ice age refuge. J Neurochem 126: 11-20
53. Verbeek DS, Warrenburg BPC, van de Hennekam FAM, Dooijes D, Ippel PF, Verschuuren-Bemelmans CC, Sinke RJ (2005) Gly118Asp is a SCA14 founder mutation in the Dutch ataxia population. Hum Genet 117(1): 88-91
54. Wedding IM, Kroken M, Henriksen SP, Selmer KK, Fiskerstrand T, Knappskog PM, Tallaksen CM (2015) Friedreich ataxia in Norway - an epidemiological, molecular and clinical study. Orphanet J Rare Dis 10: 108
55. World Health Organization | International Classification of Diseases. Available from: http:// www.who.int/classifications/icd/en/. Accessed: Aug 2016
56. World Health Organization | Mortality. Available from: http://www.who.int/topics/mortality/ en/. Accessed Aug 2016
57. Zortea M, Armani M, Pastorello E, Nunez GF, Lombardi S, Tonello S, Trevisan CP (2004) Prevalence of Inherited Ataxias in the Province of Padua, Italy. Neuroepidemiology 23(6): 275-280
58. Zurriaga Ó, Martínez C, Arizo V, Sánchez MJ, Ramos JM, García MJ, Posada de la Paz M (2006) Los registros de enfermedades en la investigación epidemiológica de las enfermedades raras en España. Rev Esp Salud Publica 80(3): 249-257