Evaluation of Genotypes and Epidemiology of Spinal Muscular Atrophy in Greece: A Nationwide Study Spanning 24 Years

被引:12
作者
Kekou, Kyriaki [1 ]
Svingou, Maria [1 ]
Sofocleous, Christalena [1 ,2 ]
Mourtzi, Niki [3 ]
Nitsa, Evangelia [4 ]
Konstantinidis, George [5 ]
Youroukos, Sotiris [3 ]
Skiadas, Konstantinos [6 ]
Katsalouli, Marina [6 ]
Pons, Roser [3 ]
Papavasiliou, Antigoni [7 ]
Kotsalis, Charalabos [7 ]
Pavlou, Evangelos [8 ]
Evangeliou, Athanasios [9 ]
Katsarou, Efstathia [10 ]
Voudris, Konstantinos [10 ]
Dinopoulos, Argirios [11 ]
Vorgia, Pelagia [12 ]
Niotakis, George [13 ]
Diamantopoulos, Nikolaos [14 ]
Nakou, Iliada [15 ]
Koute, Vasiliki [16 ]
Vartzelis, George [17 ]
Papadimas, George-Konstantinos [18 ]
Papadopoulos, Constantinos [18 ]
Tsivgoulis, Georgios [19 ]
Traeger-Synodinos, Joanne [1 ]
机构
[1] Natl & Kapodistrian Univ Athens, Med Sch, Lab Med Genet, Athens, Greece
[2] Aghia Sophia Childrens Hosp, Athens, Greece
[3] Natl & Kapodistrian Univ Athens, Aghia Sophia Childrens Hosp, Med Sch, Dept Paediat 1, Athens, Greece
[4] Natl & Kapodistrian Univ Athens Athens, Sch Med, Postgrad Program Biostat, Athens, Greece
[5] Natl & Kapodistrian Univ Athens, Aghia Sophia Childrens Hosp, Lab Med Sch, Athens, Greece
[6] Aghia Sophia Childrens Hosp, Dept Neurol, Athens, Greece
[7] Penteli Childrens Hosp, Dept Pediat Neurol, Athens, Greece
[8] Aristotle Univ Thessaloniki, Univ Gen Hosp AHEPA, Sch Med, Dept Pediat 2, Thessaloniki, Greece
[9] Aristotle Univ Thessaloniki, Gen Hosp Papageorgiou, Sch Med, Dept Pediat, Thessaloniki, Greece
[10] PA Kyriakou Childrens Hosp, JDept Neurol, Athens, Greece
[11] Natl & Kapodistrian Univ Athens, Attikon Univ Hosp, Dept Pediat 3, Athens, Greece
[12] Univ Hosp Heraklion, Pediat Dept, Iraklion, Greece
[13] Venizeleion Gen Hosp, Pediat Neurol Clin, Iraklion, Crete, Greece
[14] Karamandanion Childrens Hosp, Dept Pediat Neurol, Patras, Greece
[15] Univ Ioannina, Dept Pediat, Stavros Niarchos Ave, Ioannina, Greece
[16] Univ Thessaly, Univ Hosp Larissa, Pediat Dept, Larisa, Greece
[17] Natl & Kapodistrian Univ Athens, Med Sch, P&A Kyriakou Childrens Hosp, Dept Pediat 2, Athens, Greece
[18] Natl & Kapodistrian Univ Athens, Eginit Hosp, Med Sch, Dept Neurol, Athens, Greece
[19] Natl & Kapodistrian Univ Athens, Attikon Univ Hosp, Dept Neurol 2, Athens, Greece
关键词
Spinal muscular atrophy; incidence; prevalence; gender; epidemiology; mutation; neuromuscular disease; PRENATAL-DIAGNOSIS; SURVIVAL; GENE;
D O I
10.3233/JND-190466
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
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.
引用
收藏
页码:247 / 256
页数:10
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