| Autor: |
우승, 고영준, 김수연, 최선아, 유일한, 김헌민, 임병찬, 황희, 채종희, 최지은, 김기중, 황용승 |
| Zdroj: |
Journal of the Korean Child Neurology Society; 2015, Vol. 23 Issue 2, p62-66, 5p |
| Abstrakt: |
Purpose: Spinal muscular atrophy (SMA) is degenerative disease of motor neuron caused by loss of survival motor neuron (SMN)1 gene. SMN2 gene is highly homologous to SMN1 and is known to influence disease severity according to its copy number. Our purpose was to investigate genotype-phenotype correlation between the SMN2 copy number and the clinical course in spinal muscular atrophy patients. Methods: The correlation between SMN2 copy number and clinical severity (subtype, ventilator support, mortality and independent walking) was analyzed. Results: The SMN2 copy number was analyzed in 60 SMA patients (male 29, femaze 31). The average follow-up duration was 4.0 years (0.2 to 16.7). One patient had 1 SMN2 copy and was on ventilator support. In 20 patients who had 2 SMN2 copies, 19 (95.0%) were type I and 11 (55.0%) were on ventilator support. There were 4 mortalities in these patients. In 37 patients who had 3 SMN2 copies, 36 (97.3%) were type II. The 3 patients (8.1%) were on ventilator support and 17 (45.9%) could walk independently. The two patients had 4 SMN2 copies, each patient was type I and III. Two SMN2 copies were significantly correlated with earlier ventilator dependence and higher mortality than three SMN2 copies. Conclusion: This is the first report that compared the relationship between SMN2 copy number and clinical phenotype in Korean SMA patients. The lower SMN2 gene copies were significantly correlated with severe clinical outcomes of SMA. However, additional biomarkers capable of predicting more detailed clinical outcomes within subtypes need to be further determined in an extended cohort. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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