Naslov
Cognitive Changes and Genetic Markers in Amyotrophic Lateral Sclerosis : Preliminary Results of a Prospective Study

Autori
Liščić, Rajka M ; Štukovnik, Vita ; Muck-Šeler, Dorotea ; Babić, Ana ; Nedić, Gordana ; Mustapić, Maja ; Zidar, Janez

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
Abstracts of the 6th International Conference on Frontotemporal Dementias ; u: Dementia and Genetic Cognitive Disorders (S1) / Swieten, JC, Heutink P, Scheltens P - Basel : S. Karger, 2008, 64-65

ISBN
978-3-8055-8961-1

Skup
International Conference on Frontotemporal Dementia (6 ; 2008)

Mjesto i datum
Rotterdam, Nizozemska, 03.09.2008. - 05.09.2008

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
frontotemporal dementia; cognition; gentic markers; polymorphism

Sažetak
Amyotrophic lateral sclerosis (ALS) is a progressive and ultimately fatal neurodegenerative disease. The overlap between ALS and dementia is demonstrated by the presence of cognitive, behavioral dysfunction and change of personality in up to 50% of ALS patients. Behavioral features are mostly due to changes in catecholaminergic and serotonergic system. To identify genetic correlates of cognitive changes with the emphasis on executive function in ALS patients. In a prospective study, two tests of executive functions (Controlled oral word association - FAS test ; Tower of London (TOL), and a screening instrument for dementia were applied on 15 ALS patients (9 male, 60.5± 5.8 years), as defined by El Escorial Criteria. -1021 C/T polymorphism of DBH gene, 102 C/T polymorphism of 5-HT2A receptor gene, val66met polymorphism of COMT gene and val158/108met polymorphism of BDNF gene were correlated with a cognitive tests. 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% were impaired on TOL Total move score and 33% on TOL Total rules violation score. 40% were impaired at DRS II Conceptualization subtest and 20% on DRS-II Memory subtest. No significant (p>0.05) relationship between genes polymorphism and variables of executive functional tests was found. The preliminary findings reveal a tendency for executive cognitive deficits in group of ALS patients. The genetic variation may influence behavior and memory conditions. Further studies on a larger sample, however, are needed in order to confirm it.

Izvorni jezik
Engleski

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