Naslov
ALS and FTLD: Cognitive Changes and Genetic Markers

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

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

Izvornik
Rehabilitacija/ Rehabilitation Symposium on Amyotrophic Lateral Sclerosis with the 24th Dr. Janez Faganel Memorial Lecture / Koritnik, Blaž - Ljubljana : Institute for Rehabilitation, Republic of Slovenia, 2008, 19-19

ISBN
978-961-6060-74-5

Skup
Symposium on Amyotrophic Lateral Sclerosis with the 24th Dr. Janez Faganel Memorial Lecture

Mjesto i datum
Ljubljana, Slovenija, 19.09.2008. - 20.09.2008

Vrsta sudjelovanja
Pozvano predavanje

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
ALS; FTLD; behavioral and cognitive features; genetic correlates
(FTLD; behavioral and cognitive features; genetic correlates)

Sažetak
Background: Amyotrophic lateral sclerosis (ALS) may be accompanied by cognitive impairment ; when present it is mainly in the form of frontotemporal impairment. Frontotemporal lobar degeneration (FTLD) is a focal, non-Alzheimer form of dementia, clinically characterized as either behavioral or aphasic variants [1]. The overlap between dementia and ALS is demonstrated by the presence of cognitive, behavioral, executive dysfunction and change of personality in up to 50% of ALS patients [2]. Behavioral features are mostly due to changes in serotonergic and catecholaminergic system [3]. Objective: To identify genetic correlates of cognitive changes with the emphasis on executive function in ALS patients. Materials and methods: In a prospective study, two tests of executive functions (Controlled oral word association - FAS test ; Tower of London (TOL), were applied on 16 ALS patients (10 male, 60.5&plusmn ; ; ; ; ; 5.8 years), as defined by El Escorial Criteria. All subjects also completed the Dementia Rating Scale II (DRS-II). -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. 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 TOL Total move score and 33% of patients on TOL Total rules violation score. 40% of patients were impaired at DRS II Conceptualization subtest and 20% of patients on DRS-II Memory subtest. No significant (p>0.05) relationship between genes polymorphism and variables of executive functional tests was found [4]. Conclusion: The preliminary findings reveal a tendency for executive deficit in ALS. There is a potential genotype-specific influence in ALS for executive functions. Further studies on a larger sample, however, are needed in order to confirm it.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

POVEZANOST RADA