scholarly journals The neuronal migration hypothesis of dyslexia: a critical evaluation thirty years on

2018 ◽  
Author(s):  
Luiz G Guidi ◽  
Antonio Velayos-Baeza ◽  
Isabel Martinez-Garay ◽  
Anthony P Monaco ◽  
Silvia Paracchini ◽  
...  
Keyword(s):  
Neuronal Migration ◽  
Genetic Basis ◽  
Critical Evaluation ◽  
Human Cognition ◽  
Rodent Models ◽  
Imaging Studies ◽  
Linguistic Ability ◽  
Developing Neocortex ◽  
Key Features ◽  
Robust Evidence

The capacity for language is one of the key features underlying the complexity of human cognition and its evolution. However, little is known about the neurobiological mechanisms that mediate normal or impaired linguistic ability. For developmental dyslexia, early post-mortem studies conducted in the 1980s linked the disorder to subtle defects in the migration of neurons in the developing neocortex. These early studies were reinforced by human genetic analyses that identified dyslexia susceptibility genes and subsequent evidence of their involvement in neuronal migration. In this review, we examine recent experimental evidence that does not support the link between dyslexia and neuronal migration. We critically evaluate gene function studies conducted in rodent models and draw attention to the lack of robust evidence from histopathological and imaging studies in humans. Our review suggests that the neuronal migration hypothesis of dyslexia should be reconsidered, and the anatomical and genetic basis of dyslexia should be approached with a fresh start.

scholarly journals The neuronal migration hypothesis of dyslexia: a critical evaluation thirty years on

2018 ◽  
Author(s):  
Luiz G Guidi ◽  
Antonio Velayos-Baeza ◽  
Isabel Martinez-Garay ◽  
Anthony P Monaco ◽  
Silvia Paracchini ◽  
...  
Keyword(s):  
Neuronal Migration ◽  
Genetic Basis ◽  
Critical Evaluation ◽  
Human Cognition ◽  
Rodent Models ◽  
Imaging Studies ◽  
Linguistic Ability ◽  
Developing Neocortex ◽  
Key Features ◽  
Robust Evidence

The capacity for language is one of the key features underlying the complexity of human cognition and its evolution. However, little is known about the neurobiological mechanisms that mediate normal or impaired linguistic ability. For developmental dyslexia, early post-mortem studies conducted in the 1980s linked the disorder to subtle defects in the migration of neurons in the developing neocortex. These early studies were reinforced by human genetic analyses that identified dyslexia susceptibility genes and subsequent evidence of their involvement in neuronal migration. In this review, we examine recent experimental evidence that does not support the link between dyslexia and neuronal migration. We critically evaluate gene function studies conducted in rodent models and draw attention to the lack of robust evidence from histopathological and imaging studies in humans. Our review suggests that the neuronal migration hypothesis of dyslexia should be reconsidered, and the anatomical and genetic basis of dyslexia should be approached with a fresh start.

scholarly journals AMP-activated protein kinase regulates cytoplasmic dynein behavior and contributes to neuronal migration in the developing neocortex

Development ◽  
2020 ◽  
Vol 147 (14) ◽  
pp. dev187310
Author(s):  
Yasuki Naito ◽  
Naoyuki Asada ◽  
Minh Dang Nguyen ◽  
Kamon Sanada
Keyword(s):  
Protein Kinase ◽  
Neuronal Migration ◽  
Pyramidal Neurons ◽  
Resistant Mutant ◽  
Cytoplasmic Dynein ◽  
Radial Migration ◽  
Dynein Intermediate Chain ◽  
Microtubule Motor ◽  
Developing Neocortex ◽  
Amp Activated Protein Kinase

ABSTRACTThe microtubule motor cytoplasmic dynein contributes to radial migration of newborn pyramidal neurons in the developing neocortex. Here, we show that AMP-activated protein kinase (AMPK) mediates the nucleus-centrosome coupling, a key process for radial neuronal migration that relies on dynein. Depletion of the catalytic subunit of AMPK in migrating neurons impairs this coupling as well as neuronal migration. AMPK shows overlapping subcellular distribution with cytoplasmic dynein and the two proteins interact with each other. Pharmacological inhibition or activation of AMPK modifies the phosphorylation states of dynein intermediate chain (DIC) and dynein functions. Furthermore, AMPK phosphorylates DIC at Ser81. Expression of a phospho-resistant mutant of DIC retards neuronal migration in a similar way to AMPK depletion. Conversely, expression of the phospho-mimetic mutant of DIC alleviates impaired neuronal migration caused by AMPK depletion. Thus, AMPK-regulated dynein function via Ser81 DIC phosphorylation is crucial for radial neuronal migration.

scholarly journals Update on Congenital Myopathies in Adulthood

2020 ◽  
Vol 21 (10) ◽  
pp. 3694
Author(s):  
George Konstantinos Papadimas ◽  
Sophia Xirou ◽  
Evangelia Kararizou ◽  
Constantinos Papadopoulos
Keyword(s):  
Muscle Biopsy ◽  
Genetic Basis ◽  
Late Onset ◽  
Congenital Myopathies ◽  
Histopathological Findings ◽  
Muscle Diseases ◽  
Phenotypic Spectrum ◽  
Clinical Presentations ◽  
Genetic Technologies ◽  
Key Features

Congenital myopathies (CMs) constitute a group of heterogenous rare inherited muscle diseases with different incidences. They are traditionally grouped based on characteristic histopathological findings revealed on muscle biopsy. In recent decades, the ever-increasing application of modern genetic technologies has not just improved our understanding of their pathophysiology, but also expanded their phenotypic spectrum and contributed to a more genetically based approach for their classification. Later onset forms of CMs are increasingly recognised. They are often considered milder with slower progression, variable clinical presentations and different modes of inheritance. We reviewed the key features and genetic basis of late onset CMs with a special emphasis on those forms that may first manifest in adulthood.

scholarly journals Dab2ip Regulates Neuronal Migration and Neurite Outgrowth in the Developing Neocortex

PLoS ONE ◽  
2012 ◽  
Vol 7 (10) ◽  
pp. e46592 ◽  
Author(s):  
Gum Hwa Lee ◽  
Sun Hong Kim ◽  
Ramin Homayouni ◽  
Gabriella D'Arcangelo
Keyword(s):  
Neurite Outgrowth ◽  
Neuronal Migration ◽  
Developing Neocortex

DYX1C1 functions in neuronal migration in developing neocortex

Neuroscience ◽  
2006 ◽  
Vol 143 (2) ◽  
pp. 515-522 ◽  
Author(s):  
Y. Wang ◽  
M. Paramasivam ◽  
A. Thomas ◽  
J. Bai ◽  
N. Kaminen-Ahola ◽  
...  
Keyword(s):  
Neuronal Migration ◽  
Developing Neocortex

Involvement of SF-1 in neurogenesis and neuronal migration in the developing neocortex

2015 ◽  
Vol 600 ◽  
pp. 85-90 ◽  
Author(s):  
Munekazu Komada ◽  
Mifumi Takahashi ◽  
Yayoi Ikeda
Keyword(s):  
Neuronal Migration ◽  
Developing Neocortex

scholarly journals Molecular and Mechanical Mechanisms of Calcification Pathology Induced by Bicuspid Aortic Valve Abnormalities

2021 ◽  
Vol 8 ◽  
Author(s):  
Hail B. Kazik ◽  
Harkamaljot S. Kandail ◽  
John F. LaDisa ◽  
Joy Lincoln
Keyword(s):  
Aortic Valve ◽  
Bicuspid Aortic Valve ◽  
Computational Models ◽  
Genetic Basis ◽  
Imaging Studies ◽  
Calcific Aortic Valve Disease ◽  
Secondary Complications ◽  
Need For Treatment ◽  
History Of

Bicuspid aortic valve (BAV) is a congenital defect affecting 1–2% of the general population that is distinguished from the normal tricuspid aortic valve (TAV) by the existence of two, rather than three, functional leaflets (or cusps). BAV presents in different morphologic phenotypes based on the configuration of cusp fusion. The most common phenotypes are Type 1 (containing one raphe), where fusion between right coronary and left coronary cusps (BAV R/L) is the most common configuration followed by fusion between right coronary and non-coronary cusps (BAV R/NC). While anatomically different, BAV R/L and BAV R/NC configurations are both associated with abnormal hemodynamic and biomechanical environments. The natural history of BAV has shown that it is not necessarily the primary structural malformation that enforces the need for treatment in young adults, but the secondary onset of premature calcification in ~50% of BAV patients, that can lead to aortic stenosis. While an underlying genetic basis is a major pathogenic contributor of the structural malformation, recent studies have implemented computational models, cardiac imaging studies, and bench-top methods to reveal BAV-associated hemodynamic and biomechanical alterations that likely contribute to secondary complications. Contributions to the field, however, lack support for a direct link between the external valvular environment and calcific aortic valve disease in the setting of BAV R/L and R/NC BAV. Here we review the literature of BAV hemodynamics and biomechanics and discuss its previously proposed contribution to calcification. We also offer means to improve upon previous studies in order to further characterize BAV and its secondary complications.

scholarly journals Antibiotic prophylaxis for infective endocarditis: current approaches

Kardiologiia ◽  
2021 ◽  
Vol 60 (12) ◽  
pp. 117-124
Author(s):  
G. G. Taradin ◽  
N. T. Vatutin ◽  
G. A. Ignatenko ◽  
E. Ju. Ponomareva ◽  
Bernard David Prendergast
Keyword(s):  
American Heart ◽  
Electronic Devices ◽  
Critical Evaluation ◽  
Heart Association ◽  
Antibacterial Prophylaxis ◽  
National Guidelines ◽  
Transcatheter Aortic Valve ◽  
History Of ◽  
Key Features ◽  
Valve Implantation

This review addresses current views on prevention of infectious endocarditis (IE). History of establishing the concept of antibacterial prophylaxis (ABP), major approaches, and substantiation of changes in ABP in recent years are described. Recent international and national guidelines are highlighted, specifically, guidelines of the European Society of Cardiologists, American Heart Association/American College of Cardiology, and the Japanese Circulation Society. The review presents critical evaluation of previously approved international guidelines, including analysis of the effect of partial or complete ABP restriction on IE morbidity and incidence of complications. Special attention is paid to awareness of practitioners, particularly dentists, about ABP issues in their practice. Aspects of validity and key features of preventive approaches in implanting cardiac electronic devices and transcatheter aortic valve implantation are discussed.

Sign in / Sign up

Export Citation Format

Share Document