engleski

Is there an impact of genetic markers in amyotrophic lateral sclerosis patients on cognitive impairement?

Background: The overlap between cognitive impairment and behavioral features in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia is demonstrated in up to 50% of ALS patients. Behavioral features are mostly due to changes in serotonergic and catecholaminergic system. The aim of the study was to compare gene polymorphisms coding for proteins involved in serotonin and catecholamine metabolism and function with the emphasis on executive function in ALS patients. Materials and methods: The prospective study included 16 ALS patients (10 male, 60.5&plusmn ; 5.8 years) defined by El Escorial Criteria. 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: The frequency of genotypes for particular gene polymorphism were: COMT (GG-33%, GA-53%, AA-14%), BDNF (GG-73%, GA-20%, AA-7%), DBH (CC-47%, CT-47%, TT-6%) and 5-HT2A (CC-30%, CT-60%, TT-10%). 57% of patients showed deficient word generation capability. 21% of patients were impaired on TOL Total move score and 33% of patients on TOL Total rules violation score. No significant relationship was found between genes polymorphism and variables of executive functional tests. Conclusion: The preliminary results showed no correlations between gene polymorphisms and variables of executive functional tests. A sizable proportion of ALS patients’ showed behavioral and cognitive changes within a spectrum of frontotemporal impairment. Further studies on a larger sample, however, are needed in order to confirm it.

genetic markers; ALS; cognitive impairment

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