engleski

Genetic Markers in ALS Patients with Executive Function Impairment

Background: Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) often coexist in the same patient. The overlap between executive function impairment and behavioral features is demonstrated in a large proportion of ALS patients. Behavioral features are mostly due to changes in serotonergic and catecholaminergic system. Objective: To identify gene polymorphisms coding for proteins involved in serotonin and catecholamine metabolism with an emphasis on executive functions in ALS patients. Materials and methods: Sixteen ALS patients (10 male, 60.5±5.8 years) were investigated. Genetic markers: -1021 C/T polymorphism of DBH gene, 102 C/T polymorphism of 5-HT2A receptor gene, val158met polymorphism of COMT gene and val66met polymorphism of BDNF gene were correlated with two tests of executive functions, Controlled oral word association and Tower of London (TOL). Results: ALS patients carrying GG, GA and AA genotype of the BDNF gene polymorphism were 73%, 20% and 7%, respectively. The frequency of GG, GA, AA genotype for COMT gene polymorphism was 33%, 53% and 14%, respectively. The DBH gene polymorphism distribution was 47%, 47% and 6% for CC, CT and TT genotype, respectively. The frequency of CC, CT, TT genotype for 5-HT2A gene polymorphism was 30%, 60% and 10%, respectively. 57% of patients showed deficient word generation capability. 21% of patients were impaired on TOLTotal move score and 33% of patients on TOL Total rules violation score. Genes polymorphism were not correlated with executive tests (p>0.05). Conclusion: A sizable proportion of ALS patients’ showed behavioral and cognitive changes within a spectrum of frontotemporal impairment. Further studies, on a larger sample, are needed in order to confirm it.

ALS; FTD; Genetic markers; Behavior impairment

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