Association of the New Variant Tyr424Asp at TBK1 Gene with Amyotrophic Lateral Sclerosis and Cognitive Decline

2017 ◽  
Vol 61 (1) ◽  
pp. 41-46 ◽  
Author(s):  
Irene Piaceri ◽  
Valentina Bessi ◽  
Sabrina Matà ◽  
Cristina Polito ◽  
Andrea Tedde ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Cognitive Decline ◽  
New Variant ◽  
Tbk1 Gene ◽  
Lateral Sclerosis

scholarly journals Cognitive reserve in amyotrophic lateral sclerosis (ALS): a population-based longitudinal study

2021 ◽  
pp. jnnp-2020-324992
Author(s):  
Emmet Costello ◽  
James Rooney ◽  
Marta Pinto-Grau ◽  
Tom Burke ◽  
Marwa Elamin ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Cognitive Impairment ◽  
Cognitive Decline ◽  
Cognitive Reserve ◽  
Population Based ◽  
Protective Role ◽  
Drop Out ◽  
Longitudinal Change ◽  
Activity Data ◽  
Lateral Sclerosis

BackgroundAmyotrophic lateral sclerosis (ALS) is often associated with cognitive and/or behavioural impairment. Cognitive reserve (CR) may play a protective role in offsetting cognitive impairment. This study examined the relationship between CR and longitudinal change in cognition in an Irish ALS cohort.MethodsLongitudinal neuropsychological assessment was carried out on 189 patients over 16 months using the Edinburgh cognitive and behavioural ALS screen (ECAS) and an additional battery of neuropsychological tests. CR was measured by combining education, occupation and physical activity data. Joint longitudinal and time-to-event models were fitted to investigate the associations between CR, performance at baseline and decline over time while controlling for non-random drop-out.ResultsCR was a significant predictor of baseline neuropsychological performance, with high CR patients performing better than those with medium or low CR. Better cognitive performance in high CR individuals was maintained longitudinally for ECAS, social cognition, executive functioning and confrontational naming. Patients displayed little cognitive decline over the course of the study, despite controlling for non-random drop-out.ConclusionsThese findings suggest that CR plays a role in the presentation of cognitive impairment at diagnosis but is not protective against cognitive decline. However, further research is needed to examine the interaction between CR and other objective correlates of cognitive impairment in ALS.

scholarly journals Cognitive decline and reduced survival inC9orf72expansion frontotemporal degeneration and amyotrophic lateral sclerosis

2012 ◽  
Vol 84 (2) ◽  
pp. 163-169 ◽  
Author(s):  
David J Irwin ◽  
Corey T McMillan ◽  
Johannes Brettschneider ◽  
David J Libon ◽  
John Powers ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Cognitive Decline ◽  
Frontotemporal Degeneration ◽  
Lateral Sclerosis

scholarly journals Cognitive decline in amyotrophic lateral sclerosis: Neuropathological substrate and genetic determinants

2021 ◽  
Author(s):  
Sergi Borrego‐Écija ◽  
Janina Turon‐Sans ◽  
Teresa Ximelis ◽  
Iban Aldecoa ◽  
Laura Molina‐Porcel ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Cognitive Decline ◽  
Genetic Determinants ◽  
Lateral Sclerosis

scholarly journals Multi-Ethnic Comparison of the Characteristics of Amyotrophic Lateral Sclerosis-Related TBK1 Gene Variants

2019 ◽  
Vol 4 (1) ◽  
pp. 7-11
Author(s):  
Genki Tohnai ◽  
Ryoichi Nakamura ◽  
Masahiro Nakatochi ◽  
Naoki Atsuta ◽  
Masahisa Katsuno ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Gene Variants ◽  
Tbk1 Gene ◽  
Lateral Sclerosis

scholarly journals Synapse loss in the prefrontal cortex is associated with cognitive decline in amyotrophic lateral sclerosis

2017 ◽  
Vol 135 (2) ◽  
pp. 213-226 ◽  
Author(s):  
Christopher M. Henstridge ◽  
Dimitrios I. Sideris ◽  
Emily Carroll ◽  
Sanziana Rotariu ◽  
Sally Salomonsson ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Prefrontal Cortex ◽  
Cognitive Decline ◽  
Synapse Loss ◽  
Lateral Sclerosis

Frequency and characteristics of the TBK1 gene variants in Japanese patients with sporadic amyotrophic lateral sclerosis

2018 ◽  
Vol 64 ◽  
pp. 158.e15-158.e19 ◽  
Author(s):  
Genki Tohnai ◽  
Ryoichi Nakamura ◽  
Jun Sone ◽  
Masahiro Nakatochi ◽  
Daichi Yokoi ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Japanese Patients ◽  
Sporadic Amyotrophic Lateral Sclerosis ◽  
Gene Variants ◽  
Tbk1 Gene ◽  
Lateral Sclerosis
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