scholarly journals The role of the anterior and midcingulate cortex in the neurobiology of functional neurologic disorder

Author(s):  
Juan Pablo Ospina ◽  
Rozita Jalilianhasanpour ◽  
David L. Perez
Author(s):  
Cécile Cazeneuve ◽  
Alexandra Durr

Huntington’s disease (HD) is a rare inherited neurologic disorder due to a single mutational mechanism in a large gene (HTT). The mutation is an abnormal CAG repeat expansion, which is translated to a polyglutamine stretch in the huntingtin protein. The growing field of repeat expansion disorders benefits greatly from the lessons learned from the role of the CAG repeat expansion in HD and its resulting phenotype–genotype correlations. The molecular diagnosis can be difficult, and there are some pitfalls for accurate sizing of the CAG repeat, especially in juvenile HD and for intermediate alleles. Correlation between CAG length and age of onset accounts for up to 72% of the variance in different populations, but the search for genes modifying age of onset or progression of HD is still ongoing.


2013 ◽  
Vol 7 ◽  
Author(s):  
Matthew A. J. Apps ◽  
Patricia L. Lockwood ◽  
Joshua H. Balsters
Keyword(s):  

2016 ◽  
Vol 234 (11) ◽  
pp. 3119-3131 ◽  
Author(s):  
Lee-Bareket Kisler ◽  
Yelena Granovsky ◽  
Alon Sinai ◽  
Elliot Sprecher ◽  
Simone Shamay-Tsoory ◽  
...  

Author(s):  
Faezeh Khorsha ◽  
Atieh Mirzababaei ◽  
Nasim Ghodoosi ◽  
Mansoureh Togha ◽  
Mir Saeed Yekaninejad ◽  
...  

Background: Migraine is a neurologic disorder. Although, based on previous evidence, migraine is related with inflammation and oxidative stress, its relationship with the inflammatory potential of the diet is still unknown. Thus, the aim of this study was to show the correlation between Dietary Inflammatory Index (DII) and severity and duration of migraine headache. Methods: In this cross-sectional study, 266 women who suffered from migraine, were included. Demographic and anthropometric data were collected form all participants. 147-item semiquantitative food frequency questionnaire (FFQ) was collected to assess dietary intake and consequently, DII scores were calculated. Migraine Disability Assessment (MIDAS) questionnaire, Visual Analog Scale (VAS), and a 30-day headache diary were also completed by each participant. Results: The DII score ranged between -4.22 and 5.19 and its median [interquartile range (IQR)] was 0.003  (-1.48-1.55). There was no meaningful association between age, occupation, physical activity (PA), weight, height, Body Mass Index (BMI), waist circumference (WC), hip circumference, waist-to-hip ratio (WHR) and DII score classifications (P > 0.050). Subjects with more than 20 days of headache had higher DII score compared to those with less than 10 days per month [odds ratio (OR) = 1.60, 95% confidence interval (CI) = 1.12-2.08, P = 0.001]. There was no association between DII and migraine severity (VAS and MIDAS) in the crude and adjusted model of logistic regression. Although there was a significant association between headache duration and DII  (P = 0.020), this relationship was not meaningful after adjusting for age, PA, BMI, and job status (OR = 0.53, 95% CI = 0.28-1.00, P = 0.052). Conclusion: The present study showed a direct association between headache frequency and DII. Nevertheless, any relationship was not found between headache duration or migraine severity and DII score. Future large and prospective studies are needed to explore the effect of inflammatory potential of diet in migraine characteristics.


2019 ◽  
Vol 29 ◽  
pp. S570-S571
Author(s):  
S. Van Heukelum ◽  
F. Mogavero ◽  
M. Van de Wal ◽  
L. Drost ◽  
B. Vivica ◽  
...  

2021 ◽  
Vol 2021 ◽  
pp. 1-13
Author(s):  
Joao Castelhano ◽  
Isabel C. Duarte ◽  
Joao Duraes ◽  
Henrique Madeira ◽  
Miguel Castelo-Branco

Software programming is a modern activity that poses strong challenges to the human brain. The neural mechanisms that support this novel cognitive faculty are still unknown. On the other hand, reading and calculation abilities represent slightly less recent human activities, in which neural correlates are relatively well understood. We hypothesize that calculus and reading brain networks provide joint underpinnings with distinctly weighted contributions which concern programming tasks, in particular concerning error identification. Based on a meta-analysis of the core regions involved in both reading and math and recent experimental evidence on the neural basis of programming tasks, we provide a theoretical account that integrates the role of these networks in program understanding. In this connectivity-based framework, error-monitoring processing regions in the frontal cortex influence the insula, which is a pivotal hub within the salience network, leading into efficient causal modulation of parietal networks involved in reading and mathematical operations. The core role of the anterior insula and anterior midcingulate cortex is illuminated by their relation to performance in error processing and novelty. The larger similarity that we observed between the networks underlying calculus and programming skills does not exclude a more limited but clear overlap with the reading network, albeit with differences in hemispheric lateralization when compared with prose reading. Future work should further elucidate whether other features of computer program understanding also use distinct weights of phylogenetically “older systems” for this recent human activity, based on the adjusting influence of fronto-insular networks. By unraveling the neural correlates of program understanding and bug detection, this work provides a framework to understand error monitoring in this novel complex faculty.


2018 ◽  
Vol 293 (47) ◽  
pp. 18400-18401
Author(s):  
Jon M. Huibregtse

Loss-of-function mutations in the UBE3A ubiquitin ligase are associated with Angelman syndrome (AS), a severe neurologic disorder. A new study defines the role of mutations in an N-terminal “AZUL” domain as mediating direct binding to a proteasomal subunit and shows that this interaction is correlated with the ability of UBE3A to promote Wnt/β-catenin signaling. These results provide new insights into a central biomolecule in AS and suggest that defects in Wnt/β-catenin signaling may underlie some AS phenotypes.


2013 ◽  
Vol 35 (6) ◽  
pp. 2741-2753 ◽  
Author(s):  
Felix Hoffstaedter ◽  
Christian Grefkes ◽  
Svenja Caspers ◽  
Christian Roski ◽  
Nicola Palomero-Gallagher ◽  
...  

2021 ◽  
Author(s):  
Aloysius Domingo ◽  
Rachita Yadav ◽  
Shivangi Shah ◽  
William T. Hendriks ◽  
Serkan Erdin ◽  
...  

Dystonia is a neurologic disorder associated with an increasingly large number of variants in many genes, resulting in characteristic disturbances in volitional movement. Dissecting the relationships between these mutations and their functional outcomes is a critical step in understanding the key pathways that drive dystonia pathogenesis. Here we established a pipeline for characterizing an allelic series of dystonia-specific mutations in isogenic induced pluripotent stem cells (iPSCs). We used this strategy to investigate the molecular consequences of variation in THAP1, which encodes a transcription factor that has been linked to neural differentiation. Multiple pathogenic mutations that have been associated with dystonia cluster within distinct THAP1 functional domains and are predicted to alter its DNA binding properties and/or protein interactions differently, yet the relative impact of these varied changes on molecular signatures and neural deficits is unclear. To determine the effects of these mutations on THAP1 transcriptional activity, we engineered an allelic series of eight mutations in a common iPSC background and differentiated these lines into a panel of near-isogenic neural stem cells (n = 94 lines). Transcriptome profiling of these neural derivatives followed by joint analysis of the most robust individual signatures across mutations identified a convergent pattern of dysregulated genes functionally related to neurodevelopment, lysosomal lipid metabolism, and myelin. Based on these observations, we examined mice bearing Thap1-disruptive alleles and detected significant changes in myelin gene expression and reduction of myelin structural integrity relative to tissue from control mice. These results suggest that deficits in neurodevelopment and myelination are common consequences of dystonia-associated THAP1 mutations and highlight the potential role of neuron-glial interactions in the pathogenesis of dystonia.


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