TY  - JOUR
AU  - Brkušanin, Milos
AU  - Jeftović-Velkova, Irena
AU  - Jovanović, Vladimir
AU  - Perić, Stojan
AU  - Pešović, Jovan
AU  - Brajušković, Goran
AU  - Stević, Zorica
AU  - Savić-Pavićević, Dušanka
PY  - 2018
UR  - http://www.doiserbia.nb.rs/Article.aspx?ID=0370-81791800069B
UR  - https://radar.ibiss.bg.ac.rs/handle/123456789/3452
AB  - Introduction/Objective. Amyotrophic lateral sclerosis (ALS) is a devastating motor neuron disease. The majority of cases are apparently sporadic ALS (SALS) with variants in susceptibility genes or sometimes in high-risk ALS genes. Two ALS susceptibility genes are SMN1, whose functional loss causes spinal muscular atrophy (SMA), and a nearly identical SMN2 gene, which modulates SMA severity. In this study we examined the association of copy number variations (CNVs) of SMN1 and SMN2 genes and two additional genes, SERF1 and NAIP, residing in the same genomic region (i.e. 5q13.2 segmental duplication), with SALS in patients from Serbia. Methods. Multiplex ligation-dependent probe amplification was used to determine CNVs of each gene in a clinically well-characterised group of 153 Serbian SALS patients and 153 controls. Results. Individual association between SMN1, SMN2, SERF1 or NAIP CNVs and SALS susceptibility or survival was not found. Survival curves based on the multivariable Cox regression analysis showed that three SMN1 copies, lower ALS Functional Rating Scale Revised (ALSFRS-R) score at the time of diagnosis, faster decline of the ALSFRS-R score over time, and shorter diagnostic delay result in shorter survival of Serbian SALS patients. Conclusion. Clinical variables might be complemented with the SMN1 copy number to improve prediction of survival in Serbian SALS patients.
T2  - Srpski arhiv za celokupno lekarstvo
T1  - SMN1 copy number as a modifying factor of survival in Serbian patients with sporadic amyotrophic lateral sclerosis
IS  - 11-12
VL  - 146
DO  - 10.2298/SARH180801069B
SP  - 646
EP  - 652
ER  - 

@article{
author = "Brkušanin, Milos and Jeftović-Velkova, Irena and Jovanović, Vladimir and Perić, Stojan and Pešović, Jovan and Brajušković, Goran and Stević, Zorica and Savić-Pavićević, Dušanka",
year = "2018",
abstract = "Introduction/Objective. Amyotrophic lateral sclerosis (ALS) is a devastating motor neuron disease. The majority of cases are apparently sporadic ALS (SALS) with variants in susceptibility genes or sometimes in high-risk ALS genes. Two ALS susceptibility genes are SMN1, whose functional loss causes spinal muscular atrophy (SMA), and a nearly identical SMN2 gene, which modulates SMA severity. In this study we examined the association of copy number variations (CNVs) of SMN1 and SMN2 genes and two additional genes, SERF1 and NAIP, residing in the same genomic region (i.e. 5q13.2 segmental duplication), with SALS in patients from Serbia. Methods. Multiplex ligation-dependent probe amplification was used to determine CNVs of each gene in a clinically well-characterised group of 153 Serbian SALS patients and 153 controls. Results. Individual association between SMN1, SMN2, SERF1 or NAIP CNVs and SALS susceptibility or survival was not found. Survival curves based on the multivariable Cox regression analysis showed that three SMN1 copies, lower ALS Functional Rating Scale Revised (ALSFRS-R) score at the time of diagnosis, faster decline of the ALSFRS-R score over time, and shorter diagnostic delay result in shorter survival of Serbian SALS patients. Conclusion. Clinical variables might be complemented with the SMN1 copy number to improve prediction of survival in Serbian SALS patients.",
journal = "Srpski arhiv za celokupno lekarstvo",
title = "SMN1 copy number as a modifying factor of survival in Serbian patients with sporadic amyotrophic lateral sclerosis",
number = "11-12",
volume = "146",
doi = "10.2298/SARH180801069B",
pages = "646-652"
}

Brkušanin, M., Jeftović-Velkova, I., Jovanović, V., Perić, S., Pešović, J., Brajušković, G., Stević, Z.,& Savić-Pavićević, D.. (2018). SMN1 copy number as a modifying factor of survival in Serbian patients with sporadic amyotrophic lateral sclerosis. in Srpski arhiv za celokupno lekarstvo, 146(11-12), 646-652.
https://doi.org/10.2298/SARH180801069B

Brkušanin M, Jeftović-Velkova I, Jovanović V, Perić S, Pešović J, Brajušković G, Stević Z, Savić-Pavićević D. SMN1 copy number as a modifying factor of survival in Serbian patients with sporadic amyotrophic lateral sclerosis. in Srpski arhiv za celokupno lekarstvo. 2018;146(11-12):646-652.
doi:10.2298/SARH180801069B .

Brkušanin, Milos, Jeftović-Velkova, Irena, Jovanović, Vladimir, Perić, Stojan, Pešović, Jovan, Brajušković, Goran, Stević, Zorica, Savić-Pavićević, Dušanka, "SMN1 copy number as a modifying factor of survival in Serbian patients with sporadic amyotrophic lateral sclerosis" in Srpski arhiv za celokupno lekarstvo, 146, no. 11-12 (2018):646-652,
https://doi.org/10.2298/SARH180801069B . .