scholarly journals Case Report: Cognitive Conversion in a Non-brazilian VAPB Mutation Carrier (ALS8)

2021 ◽  
Vol 12 ◽  
Author(s):  
Anna G. M. Temp ◽  
Martin Dyrba ◽  
Elisabeth Kasper ◽  
Stefan Teipel ◽  
Johannes Prudlo

Amyotrophic lateral sclerosis 8 (ALS8) is a predominantly lower motor neuron syndrome originally described in a Portuguese–Brazilian family, which originated from a common founder. ALS8 is caused by a VAPB mutation and extremely rare in Central Europe. We present a 51-year-old German man with ALS8 who had the P56S VAPB mutation independently of the founder effect. In the final 4 years of his life (disease duration 10 years), the patient had five MRI scans and four in-depth neuropsychological assessments. This paper addresses the course of the patient's cognitive status and relates cognitive performance to structural brain changes in order to determine whether this ALS8 case showed a different pattern of cognitive decline compared with sporadic ALS. The executive functions, verbal fluency, and memory of the patient and 17 age-, sex-, and education-matched controls were assessed on four different occasions. His cognitive performance and decline were investigated for abnormality using cross-sectional and longitudinal matched case–control analysis. We obtained five T1-weighted MRI, which we analyzed using voxel-wise non-parametric analysis with statistical non-parametric mapping in Matlab. Moreover, we conducted a single-subject correlation between cognitive performance and brain atrophy. The cognitive profile of the index patient featured executive dysfunction. Notably, his working memory and shifting ability declined from a healthy baseline to an impaired performance, leading to a transition from cognitively non-impaired (ALSni) to cognitively impaired (ALSci). The correlations we observed between cerebellar atrophy and verbal fluency in addition to fusiform gyrus atrophy and shifting are novel findings. We found that the conversion from ALSni to ALSci was associated with widespread cerebral atrophy, which extended beyond the primary motor and premotor cortex and affected, among others, the cerebellum and left fusiform gyrus. The index patients' cognitive profile resembles that of other ALS phenotypes, but the extensive atrophy beyond extra-motor areas has not yet been described.

Author(s):  
Hristos Karakizlis ◽  
Katharina Bohl ◽  
Jannis Ziemek ◽  
Richard Dodel ◽  
Joachim Hoyer

Abstract Background Cognitive impairment in hemodialysis patients has been acknowledged over the last years and has been reported in up to 80% of patients. Older age, high prevalence of cardiovascular risk factors, such as stroke and transient ischemic attack, uremia, and multiple metabolic disturbances represent the most common factors for cognitive impairment in hemodialysis patients. Methods We conducted a prospective cohort study on 408 patients from 10 hemodialysis centers in the regional government district of Middle Hesse (Germany). Patients underwent a neuropsychological test battery consisting of five tests, in addition to a phonemic fluency test, to assess cognitive profile. The patients were classified into no cognitive impairment mildly-, moderately- or severely-impaired cognitive function, depending on the degree of impairment and number of domains where the deficit was determined. We analyzed the cognitive profile and the change in performance over time in hemodialysis patients based on their cognitive status at baseline vs. 1-year follow-up. Results Of 479 eligible patients, 408 completed all tests at baseline. Only 25% (n = 102) of the patients had no cognitive impairment. Fourteen per cent (n = 57), 36.5% (n = 149), and 24.5% (n = 100) of patients showed mild, moderate, and severe impairment, respectively. In patients with cognitive impairment, all cognitive domains were affected, and impairment was significantly associated with depression and education. The most impaired cognitive performance was immediate memory recall, and the best performance was found in naming ability. No significant  change was observed after 1 year- follow up in any domain. Conclusion Our study shows that the prevalence of cognitive impairment in hemodialysis patients is high and that it is affected by the presence of depression. Furthermore, education has an effect on cognitive test results. As depression has a significant influence on cognitive impairment, its early identification is essential in order to initiate treatment at an early stage, hoping to positively influence cognitive performance. Graphic abstract


2018 ◽  
Vol 76 (10) ◽  
pp. 685-691 ◽  
Author(s):  
Sofia Cristina Iost Pavarini ◽  
Allan Gustavo Brigola ◽  
Ana Carolina Ottaviani ◽  
Bruna Moretti Luchesi ◽  
Érica Nestor Souza ◽  
...  

Abstract Objectives: To explore the socioeconomic, demographic and psychosocial factors associated with cognitive performance in elderly caregivers from Brazil. Methods: We evaluated 351 Brazilian elderly caregivers attending primary healthcare services regarding sociodemographic and care variables. Addenbrooke's Cognitive Examination-Revised (ACE-R) domains of orientation/attention, memory, verbal fluency, language and visuospatial were used as dependent variables in the Tobit model. Results: Literacy and family income were positively associated with all ACE-R domains. Age, gender, time of care (days/week) were negatively associated with some cognitive domains. Moreover, receiving emotional help and the level of hope were positively associated with specific domains. Discussion: The results may be useful for planning interventions aimed at elderly caregivers in order to prevent deficits in the different cognitive domains.


2014 ◽  
Vol 27 (2) ◽  
pp. 229-237
Author(s):  
Grazieli Silva Túbero ◽  
Sebastião Gobbi ◽  
Camila Vieira Ligo Teixeira ◽  
Jessica Rodrigues Pereira ◽  
Ryosuke Shigematsu ◽  
...  

Introduction Cerebral stroke is the interruption of blood flow to the brain and can be classified into hemorrhagic and ischemic. It may result in serious body balance and cognition complications. Kinesiotherapy is a privileged means of rehabilitation.Objective Verify the effects of Square Stepping Exercise (SSE) on cognitive functions, depressive symptoms and the body balance of cerebral stroke sequel patients.Methods Thirteen brain stroke sequel patients were divided into two groups: SSE (SSEG n = 8) and conventional physiotherapy group (PG, n = 5). The SSEG participated only of the SSE training protocol, while the PG participated of its physical therapy routine group, both for 4 months. They were evaluated using the Mini Mental State Examination (MMSE), the Brief Cognitive Screening Battery (BBRC), the Geriatric Depression Scale (GDS),Berg Balance Scale(BBS) and Timed Up and Go(TUG).Results The U Mann Whitney test showed no significant differences between groups. In intragroup analysis, the Wilcoxon test showed significant improvement in global cognitive status for PG (p < 0.042), and for SSEG there were positive results for verbal fluency (p < 0.04) and in TUG for number of steps (p < 0.04) and the time (p < 0.02).Conclusion The SSE seems to benefit dynamic balance, influencing gait agility, cognition related to verbal fluency and may have contributed to maintain other cognitive functions.


2021 ◽  
Vol 13 ◽  
Author(s):  
Megan C. Bakeberg ◽  
Anastazja M. Gorecki ◽  
Jade E. Kenna ◽  
Alexa Jefferson ◽  
Michelle Byrnes ◽  
...  

IntroductionCholesterol levels have been associated with age-related cognitive decline, however, such an association has not been comprehensively explored in people with Parkinson’s disease (PD). To address this uncertainty, the current cross-sectional study examined the cholesterol profile and cognitive performance in a cohort of PD patients.MethodsCognitive function was evaluated using two validated assessments (ACE-R and SCOPA-COG) in 182 people with PD from the Australian Parkinson’s Disease Registry. Total cholesterol (TC), high-density lipoprotein (HDL), low-density lipoprotein (LDL), and Triglyceride (TRG) levels were examined within this cohort. The influence of individual lipid subfractions on domain-specific cognitive performance was investigated using covariate-adjusted generalised linear models.ResultsFemales with PD exhibited significantly higher lipid subfraction levels (TC, HDL, and LDL) when compared to male counterparts. While accounting for covariates, HDL levels were strongly associated with poorer performance across multiple cognitive domains in females but not males. Conversely, TC and LDL levels were not associated with cognitive status in people with PD.ConclusionHigher serum HDL associates with poorer cognitive function in females with PD and presents a sex-specific biomarker for cognitive impairment in PD.


2019 ◽  
Vol 8 (4) ◽  
pp. 484 ◽  
Author(s):  
Hongguo Rong ◽  
Xiaozhen Lai ◽  
Elham Mahmoudi ◽  
Hai Fang

Previous studies on the Chinese famine suggested long-term effects of early-life famine exposure on health conditions. This study aims to investigate the association between exposure to the Chinese famine of 1959–1961 at different early-life stages and the risk of cognitive decline in adulthood. A total of 6417 adults born between 1952 and 1964 in the 2015 survey data of China Health and Retirement Longitudinal Study were included in this study. Cognitive performance was estimated through a series of comprehensive neuropsychological tests, including the Telephone Interview of Cognitive Status (TICS-10), word recall, and pentagon drawing. Multiple generalized linear model (GLM) was employed to detect the association between multi-stage early-life famine exposure and late-life cognitive performance. Compared with the unexposed group, respondents exposed to famine in the fetal period performed worse in the TICS (difference −0.52, 95% confidence interval (CI): −0.93 to −0.10), word recall (difference −0.46, 95% CI: −0.74 to −0.19), and general cognition (difference −1.05, 95% CI: −1.64 to −0.47). Furthermore, we also found negative effects of famine exposure on performance of word recall and pentagon drawing in the early (word recall difference −0.56, 95% CI: −1.00 to −0.11; pentagon drawing difference −0.76, 95% CI: −1.40 to −0.12), mid (word recall difference −0.46, 95% CI: −0.81 to −0.11; pentagon drawing difference −0.66, 95% CI: −1.16 to −0.16), and late (word recall difference −0.30, 95% CI: −0.55 to −0.04; pentagon drawing difference −0.75, 95% CI: −1.13 to −0.37) childhood-exposed groups. Early-life famine exposure in different stages is positively associated with late-life cognitive decline. Fetal famine exposure might affect the overall cognitive status in adulthood, and childhood famine exposure has potential adverse effects on visuospatial episodic memory.


2006 ◽  
Vol 14 (7S_Part_17) ◽  
pp. P923-P924
Author(s):  
Emilie Thomas ◽  
Tharick A. Pascoal ◽  
Melissa Savard ◽  
Laurie-Anne Dion ◽  
Mira Chamoun ◽  
...  

2020 ◽  
Vol 4 (Supplement_2) ◽  
pp. 1200-1200
Author(s):  
Oscar Coltell ◽  
Eva M Asensio ◽  
Jose V Sorlí ◽  
Rebeca Fernández-Carrión ◽  
José I Giménez-Alba ◽  
...  

Abstract Objectives Choline is an essential nutrient critical for components of the cell membrane, such as choline-containing phospholipids (phosphatidylcholine and sphingomyelin), and in synthesis of the neurotransmitter acetylcholine. Choline has been shown to exert neuroprotective effects, but the association between serum choline and cognitive performance has been scarcely investigated. Our aims are: 1) To study the association between serum total choline, phosphatidylcholine and sphingomyelin with cognitive performance in subjects with metabolic syndrome; and 2) to analyze genetic variants and dietary intake most associated with cholines in this population. Methods We analyzed 426 subjects (aged 55–75 y) with metabolic syndrome from the PREDIMED Plus-Valencia Study. Serum total choline, phosphatidylcholine and sphingomyelin were determined by NMR spectroscopy. Cognitive tests, including verbal fluency (both semantic and phonemic fluency) and the Trail Making Test (TMT) (parts A and B), were administered. Candidate gene polymorphisms were determined by array genotyping. Diet was analyzed by validated questionnaires. Multivariate regression models were fitted. Results Cholines (total, phosphatidylcholine and sphingomyelin) were strongly associated with sex (higher in women; P &lt; 0.001), age (lower at increasing age; P &lt; 0.05) and diabetes (lower in type-2 diabetics; P &lt; 0.01) in a multivariate model. Although the three tested variables presented statistically significant associations with cognition, serum sphingomyelin was the most associated. Thus, in a multivariate model, serum phosphatidylcholine was directly associated with better verbal fluency (P = 0.040 and P = 0.029 for phonemic and semantic, respectively) and inversely associated (lower score mean better performance) with the TMT-A (P = 0.013) and the TMT-B (P = 0.035). In the genetic analysis, we detected several polymorphisms strongly associated with cholines (rs10991629-SLC44A1 with P &lt; 0.005 and rs8068641-PEMT; P &lt; 0.01, among others). We identified several dietary associations as well as gene-diet modulations. Conclusions Phosphatidylcholines are associated with better cognitive function and their levels are modulated by diet and genetics. Funding Sources Generalitat Valenciana (PROMETEO2017/017) and Spanish Ministry of Science (FPU 18/0,1703).


Author(s):  
Galit Weinstein ◽  
Ella Cohn-Schwartz ◽  
Noam Damri

<b><i>Introduction:</i></b> Identifying early-life factors that protect against compromised late-life cognition is of great public health interest. We aimed to explore the associations between book-oriented environment in childhood and late-life cognitive performance in the Survey of Health, Ageing and Retirement in Europe (SHARE). <b><i>Methods:</i></b> The sample included 8,239 individuals aged ≥65 years (<i>N</i> = 8,239) free of stroke, Parkinson’s disease, or Alzheimer’s disease, who participated in both waves 4 (2011) and 5 (2013) of SHARE. Book-oriented environment was assessed by the self-reported home library size during childhood. Cognitive performance was assessed using tests of memory and verbal fluency. Covariates included education and measures of current health, lifestyle, and financial status. Additionally, interactions with age and education were assessed. <b><i>Results:</i></b> After controlling for potential confounders, having large home libraries was related to better performance on the immediate and delayed memory (β = 0.11 ± 0.02, <i>p</i> &#x3c; 0.001; β = 0.13 ± 0.02, <i>p</i> &#x3c; 0.001) and the verbal fluency tests (β = 0.14 ± 0.06, <i>p</i> &#x3c; 0.001) and to a lesser decline in these domains (β = 0.08 ± 0.01, <i>p</i> &#x3c; 0.001; β = 0.09 ± 0.02, <i>p</i> &#x3c; 0.001; and β = 0.09 ± 0.06, <i>p</i> &#x3c; 0.001, respectively). Significant interactions were observed between library size and age such that larger home library was more strongly associated with improved immediate memory (<i>p</i> = 0.016), delayed memory (<i>p</i> &#x3c; 0.001), and verbal fluency (<i>p</i> = 0.003) and with less cognitive decline (<i>p</i> = 0.013, <i>p</i> &#x3c; 0.001, and <i>p</i> = 0.095, respectively) among the younger-old (&#x3c;80 years) compared to the oldest-old (≥80 years) participants. No effect modification by education was observed. <b><i>Conclusions:</i></b> These findings suggest that early-life book-oriented environment may be important in shaping cognitive aging.


Author(s):  
Anna Marseglia ◽  
Alexander Darin-Mattsson ◽  
Johan Skoog ◽  
Lina Rydén ◽  
Timothy Hadarsson-Bodin ◽  
...  

Abstract Background Individual conditions of metabolic syndrome (MetS) have been related to dementia, however, their combined impact on the preclinical stage is unknown. We investigated the associations between MetS and domain-specific cognitive function as well as the role of sociodemographic, cardiovascular, and genetic factors. Methods Within the Gothenburg H70 Birth Cohort Study-Birth cohort 1944, 1131 dementia-free participants (aged 70 years) were examined during 2014-2016. MetS (central obesity plus at least two factors [reduced HDL-cholesterol, elevated triglycerides, blood pressure, or blood glucose]) was identified according to the International Diabetes Federation criteria. Five cognitive domains (memory, attention/perceptual speed, executive function, verbal fluency, visuospatial abilities) were generated after z-standardizing raw scores from ten neuropsychological tests. Education, heart disease, claudication (indicating peripheral atherosclerosis), and apolipoprotein (APOE) genotype were ascertained by trained staff. Data were analyzed with linear regression models. Results Overall, 618 participants (55%) had MetS. In multi-adjusted linear regressions, MetS was related to poorer performance in attention/perceptual speed (β -0.14 [95% CI -0.25, -0.02]), executive function (β -0.12 [95% CI -0.23, -0.01]), and verbal fluency (β -0.19 [95% CI -0.30, -0.08]). These associations were present only among individuals who did not carry any APOE-ε4 allele or were highly educated. However, among those with MetS, high education was related to better cognitive performance. MetS together with comorbid heart disease or claudication was associated with even worse cognitive performance than each alone. Conclusions MetS is associated with poor attention/perceptual speed, executive function, and verbal fluency performance. Education, APOE-ε4 allele, and comorbid cardiovascular disease influenced the observed associations.


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