{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T02:48:06Z","timestamp":1790045286290,"version":"4.0.1"},"reference-count":29,"publisher":"SAGE Publications","issue":"3","license":[{"start":{"date-parts":[[2020,6,2]],"date-time":"2020-06-02T00:00:00Z","timestamp":1591056000000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JND"],"published-print":{"date-parts":[[2020,6,2]]},"abstract":"<jats:p>Background: Promising genetic treatments targeting the molecular defect of severe early-onset genetic conditions are expected to dramatically improve patients\u2019 quality of life and disease epidemiology. Spinal Muscular Atrophy (SMA), is one of these conditions and approved therapeutic approaches have recently become available to patients. Objective: Analysis of genetic and clinical data from SMA patients referred to the single public-sector provider of genetic services for the disease throughout Greece followed by a retrospective assessment in the context of epidemiology and genotype-phenotype associations. Methods: Molecular genetic analysis and retrospective evaluation of findings for 361 patients tested positive for SMA- and 862 apparently healthy subjects from the general population. Spearman rank test and generalized linear models were applied to evaluate secondary modifying factors with respect to their impact on clinical severity and age of onset. Results: Causative variations- including 5 novel variants- were detected indicating a minimal incidence of about 1\/12,000, and a prevalence of at least 1.5\/100,000. For prognosis a minimal model pertaining disease onset before 18 months was proposed to include copy numbers of NAIP (OR\u200a=\u200a9.9;95% CI, 4.7 to 21) and SMN2 (OR\u200a=\u200a6.2;95% CI, 2.5\u201315.2) genes as well as gender (OR\u200a=\u200a2.2;95% CI, 1.04 to 4.6). Conclusions: This long-term survey shares valuable information on the current status and practices for SMA diagnosis on a population basis and provides an important reference point for the future assessment of strategic advances towards disease prevention and health care planning.<\/jats:p>","DOI":"10.3233\/jnd-190466","type":"journal-article","created":{"date-parts":[[2020,5,12]],"date-time":"2020-05-12T13:35:00Z","timestamp":1589290500000},"page":"247-256","source":"Crossref","is-referenced-by-count":18,"title":["Evaluation of Genotypes and Epidemiology of Spinal Muscular Atrophy in Greece: A Nationwide Study Spanning 24 Years"],"prefix":"10.1177","volume":"7","author":[{"given":"Kyriaki","family":"Kekou","sequence":"first","affiliation":[{"name":"Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, \u201cAghia Sophia\u201d Children\u2019s Hospital, Athens"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Svingou","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, \u201cAghia Sophia\u201d Children\u2019s Hospital, Athens"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christalena","family":"Sofocleous","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, \u201cAghia Sophia\u201d Children\u2019s Hospital, Athens"},{"name":"Research Institute for the Study of Genetic and Malignant Disorders in Childhood, \u201cAghia Sophia\u201d Children\u2019s Hospital, Athens"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Niki","family":"Mourtzi","sequence":"additional","affiliation":[{"name":"First Department of Paediatrics, Medical School, National and Kapodistrian University of Athens, \u201cAghia Sophia\u201d Children\u2019s Hospital, Athens"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Evangelia","family":"Nitsa","sequence":"additional","affiliation":[{"name":"Postgraduate Program in Biostatistics School Of Medicine, National and Kapodistrian University of Athens, Athens"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"George","family":"Konstantinidis","sequence":"additional","affiliation":[{"name":"Laboratory of, Medical School, National and Kapodistrian University of Athens, \u201cAghia Sophia\u201d Children\u2019s Hospital, Athens"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sotiris","family":"Youroukos","sequence":"additional","affiliation":[{"name":"First Department of Paediatrics, Medical School, National and Kapodistrian University of Athens, \u201cAghia Sophia\u201d Children\u2019s Hospital, Athens"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Konstantinos","family":"Skiadas","sequence":"additional","affiliation":[{"name":"Department of Neurology, \u201cAghia Sophia\u201d Children\u2019s Hospital, Athens"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina","family":"Katsalouli","sequence":"additional","affiliation":[{"name":"Department of Neurology, \u201cAghia Sophia\u201d Children\u2019s Hospital, Athens"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roser","family":"Pons","sequence":"additional","affiliation":[{"name":"First Department of Paediatrics, Medical School, National and Kapodistrian University of Athens, \u201cAghia Sophia\u201d Children\u2019s Hospital, Athens"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antigoni","family":"Papavasiliou","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Penteli Children\u2019s Hospital, Athens"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charalabos","family":"Kotsalis","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Penteli Children\u2019s Hospital, Athens"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Evangelos","family":"Pavlou","sequence":"additional","affiliation":[{"name":"2nd Department of Pediatrics, School of Medicine, Aristotle University of Thessaloniki, University General Hospital AHEPA, Thessaloniki"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Athanasios","family":"Evangeliou","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, School of Medicine, Aristotle University of Thessaloniki, General Hospital Papageorgiou, Thessaloniki"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Efstathia","family":"Katsarou","sequence":"additional","affiliation":[{"name":"Department of Neurology, \u2018P & A Kyriakou\u2019 Children\u2019s Hospital, Athens"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Konstantinos","family":"Voudris","sequence":"additional","affiliation":[{"name":"Department of Neurology, \u2018P & A Kyriakou\u2019 Children\u2019s Hospital, Athens"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Argirios","family":"Dinopoulos","sequence":"additional","affiliation":[{"name":"Third Department of Pediatrics, National & Kapodistrian University of Athens, \u201cAttikon\u201d University Hospital, Athens"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pelagia","family":"Vorgia","sequence":"additional","affiliation":[{"name":"Pediatric Department, University Hospital of Heraklion, Crete"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"George","family":"Niotakis","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Clinics, Venizeleion General Hospital, Heraklion, Crete"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nikolaos","family":"Diamantopoulos","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Karamandanion Children\u2019s Hospital, Patras"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Iliada","family":"Nakou","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of Ioannina, Stavros Niarchos Avenue, Ioannina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vasiliki","family":"Koute","sequence":"additional","affiliation":[{"name":"Pediatric Department, University Hospital of Larissa, University of Thessaly, Larissa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"George","family":"Vartzelis","sequence":"additional","affiliation":[{"name":"Second Department of Pediatrics, National and Kapodistrian University of Athens, Medical School, \u201cP. & A. 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