Reaction time and response inhibition in autosomal dominant Alzheimer’s disease

Medina, Luis D.; Woo, Ellen; Rodríguez-Agudelo, Yaneth; Maldonado, H. C.; Yi, Dahyun; Coppola, Giovanni; Zhou, Yan; Chui, Helena C.; Ringman, John M.

doi:10.1016/j.bandc.2020.105656

Cited by 8 publications

(8 citation statements)

References 49 publications

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“…Of the 42 studies, two were conducted on members of families with a history of EOAD ( Withers et al, 2019 , 2021 ). In the preclinical stage, two of the studies were conducted on PSEN variant carriers ( Ringman et al, 2004 , 2007a ) and 12 on subjects with a history or carriers of EOAD-associated variants Ringman et al, 2008a , b , 2011 , 2012b , d , e ; Golob et al, 2009 ; Medina et al, 2011 , 2021 ; Braskie et al, 2013 ; Petok et al, 2018 ; Joe et al, 2019 ). In the clinical phase, three of the studies were conducted in A431E carriers ( Parker et al, 2019 ; Alakkas et al, 2020 ; Dumois-Petersen et al, 2020 ), and two of the studies were conducted in PSEN variant carriers ( Joshi et al, 2012 ; Soosman et al, 2016 ).…”

Section: Resultsmentioning

confidence: 99%

“…After presenting the studies exclusively to PSEN , we categorized those who reported in combination with APP . In Table 5 , we present these articles in three categories: first, articles with PSEN1 and APP ( Ringman et al, 2007b , 2008a , b , 2010 , 2011 , 2012a , b , c , d , e ; Golob et al, 2009 ; Apostolova et al, 2011 ; Braskie et al, 2012 , 2013 ; Lee et al, 2013 ; Joe et al, 2019 ; Medina et al, 2021 ; Singer et al, 2021 ); second, articles with PSEN1, PSEN2 , and APP variants ( Albrecht et al, 2009 ; Medina et al, 2011 ; Ringman et al, 2016 ; Petok et al, 2018 ), and finally, those articles who reported families with a history of EOAD ( Withers et al, 2019 ) and another with A431E PSEN1 and an unknown mutation ( Withers et al, 2021 ).…”

Section: Resultsmentioning

confidence: 99%

“…Visuospatial deficits are present since the early stages of the disease ( Ringman et al, 2005 ; Lee et al, 2013 ; Santos-Mandujano et al, 2020 ). As for executive functioning, in mild cognitive impairment, both the carriers ( Lee et al, 2013 ) and non-demented ( Ringman et al, 2005 ) had lower and slower performance ( Medina et al, 2021 ). These changes have been associated with Tau neurofibrillary tangles in the prefrontal areas ( Weintraub et al, 2012 ) and may reflect dual protein participation in the early stages of the disease.…”

Section: Discussionmentioning

confidence: 99%

“…Three of the studies with neuropsychological findings (Ringman et al, 2011;Braskie et al, 2012;Lee et al, 2013;Medina et al, 2021) reported no differences in cognitive tests between preclinical carriers of the mutations and non-carriers (Ringman et al, 2011;Braskie et al, 2012;Lee et al, 2013). However, in a memory retrieval task, a lower fMRI activity in the hippocampus was observed (Braskie et al, 2012) while for the executive function, the response gets slower as they approach the age onset of dementia (Medina et al, 2021). In carriers with mild cognitive impairment, lower memory, language, and visuospatial, executive functioning scores, were observed compared to preclinical carriers and controls (Lee et al, 2013).…”

Section: Psen1 and Appmentioning

confidence: 99%

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PSEN1 c.1292C<A Variant and Early-Onset Alzheimer’s Disease: A Scoping Review

Orozco-Barajas

Oropeza-Ruvalcaba²,

Canales-Aguirre

et al. 2022

Front. Aging Neurosci.

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Alzheimer’s disease (AD) is the most common cause of dementia, characterized by progressive loss of cognitive function, with β-amyloid plaques and neurofibrillary tangles being its major pathological findings. Although the disease mainly affects the elderly, c. 5–10% of the cases are due to PSEN1, PSEN2, and APP mutations, principally associated with an early onset of the disease. The A413E (rs63750083) PSEN1 variant, identified in 2001, is associated with early-onset Alzheimer’s disease (EOAD). Although there is scant knowledge about the disease’s clinical manifestations and particular features, significant clinical heterogeneity was reported, with a high incidence of spastic paraparesis (SP), language impairments, and psychiatric and motor manifestations. This scoping review aims to synthesize findings related to the A431E variant of PSEN1. In the search, we followed the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) statement and the guidelines proposed by Arksey and O’Malley. We searched and identified 247 studies including the A431E variant of PSEN1 from 2001 to 2021 in five databases and one search engine. After the removal of duplicates, and apply inclusion criteria, 42 studies were finally included. We considered a narrative synthesis with a qualitative approach for the analysis of the data. Given the study sample conformation, we divided the results into those carried out only with participants carrying A431E (seven studies), subjects with PSEN variants (11 studies), and variants associated with EOAD in PSEN1, PSEN2, and APP (24 studies). The resulting synthesis indicates most studies involve Mexican and Mexican-American participants in preclinical stages. The articles analyzed included carrier characteristics in categories such as genetics, clinical, imaging techniques, neuropsychology, neuropathology, and biomarkers. Some studies also considered family members’ beliefs and caregivers’ experiences. Heterogeneity in both the studies found and carrier samples of EOAD-related gene variants does not allow for the generalization of the findings. Future research should focus on reporting data on the progression of carrier characteristics through time and reporting results independently or comparing them across variants.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Psen1 and Appmentioning

confidence: 99%

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PSEN1 c.1292C<A Variant and Early-Onset Alzheimer’s Disease: A Scoping Review

Orozco-Barajas

Oropeza-Ruvalcaba²,

Canales-Aguirre

et al. 2022

Front. Aging Neurosci.

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“…In DS, attention deficits have been described in the early stages of AD [ 87 , 97 , 108 ], while in ADAD, attention deficits are observed in the preclinical phases of the disease [ 109 ]. With regard to language, in DS, there is already a major neurodevelopmental effect on expressive language, and cases of LOAD can also present with language deficits [ 110 ].…”

Section: Clinical Featuresmentioning

confidence: 99%

The Clinical and Neuropathological Features of Sporadic (Late-Onset) and Genetic Forms of Alzheimer’s Disease

Rujeedawa

Félez

Clare

et al. 2021

JCM

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The purpose of this review is to compare and highlight the clinical and pathological aspects of genetic versus acquired Alzheimer’s disease: Down syndrome-associated Alzheimer’s disease in (DSAD) and Autosomal Dominant Alzheimer’s disease (ADAD) are compared with the late-onset form of the disease (LOAD). DSAD and ADAD present in a younger population and are more likely to manifest with non-amnestic (such as dysexecutive function features) in the prodromal phase or neurological features (such as seizures and paralysis) especially in ADAD. The very large variety of mutations associated with ADAD explains the wider range of phenotypes. In the LOAD, age-associated comorbidities explain many of the phenotypic differences.

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