@article{2997660, title = "Evaluation of Genotypes and Epidemiology of Spinal Muscular Atrophy in Greece: A Nationwide Study Spanning 24 Years", author = "Kekou, K. and Svingou, M. and Sofocleous, C. and Mourtzi, N. and Nitsa, E. and Konstantinidis, G. and Youroukos, S. and Skiadas, K. and Katsalouli, M. and Pons, R. and Papavasiliou, A. and Kotsalis, C. and Pavlou, E. and Evangeliou, A. and Katsarou, E. and Voudris, K. and Dinopoulos, A. and Vorgia, P. and Niotakis, G. and Diamantopoulos, N. and Nakou, I. and Koute, V. and Vartzelis, G. and Papadimas, G.-K. and Papadopoulos, C. and Tsivgoulis, G. and Traeger-Synodinos, J.", journal = "Journal of Neuromuscular Diseases", year = "2020", volume = "7", number = "3", pages = "247-256", publisher = "IOS Press BV", issn = "2214-3599, 2214-3602", doi = "10.3233/JND-190466", keywords = "neuronal apoptosis inhibitory protein; survival motor neuron protein 2, adolescent; adult; aged; Article; child; cohort analysis; controlled study; disease course; disease severity; female; gene dosage; genetic analysis; genetic service; genetic variability; genotype phenotype correlation; Greece; human; incidence; major clinical study; male; NAIP gene; priority journal; prognosis; retrospective study; sex ratio; SMN2 gene; spinal muscular atrophy; genetic association study; genetics; infant; middle aged; preschool child; prevalence; spinal muscular atrophy; young adult, Adolescent; Adult; Aged; Child; Child, Preschool; Genetic Association Studies; Greece; Humans; Incidence; Infant; Male; Middle Aged; Muscular Atrophy, Spinal; Prevalence; Retrospective Studies; Young Adult", abstract = "Background: Promising genetic treatments targeting the molecular defect of severe early-onset genetic conditions are expected to dramatically improve patients' 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 = 9.9;95% CI, 4.7 to 21) and SMN2 (OR = 6.2;95% CI, 2.5-15.2) genes as well as gender (OR = 2.2;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. © 2020 - IOS Press and the authors. All rights reserved." }