scholarly journals The Neurodevelopmental Hypothesis of Huntington’s Disease

2020 ◽  
Vol 9 (3) ◽  
pp. 217-229
Author(s):  
Ellen van der Plas ◽  
Jordan L. Schultz ◽  
Peg C. Nopoulos
Keyword(s):  
At Risk ◽  
Brain Development ◽  
Abnormal Development ◽  
Alternative Theory ◽  
Loss Of Function ◽  
Cellular Mechanisms ◽  
Brain Structure And Function ◽  
And Function ◽  
Neurodevelopmental Hypothesis ◽  
Abnormal Brain

The current dogma of HD pathoetiology posits it is a degenerative disease affecting primarily the striatum, caused by a gain of function (toxicity) of the mutant mHTT that kills neurons. However, a growing body of evidence supports an alternative theory in which loss of function may also influence the pathology.This theory is predicated on the notion that HTT is known to be a vital gene for brain development. mHTT is expressed throughout life and could conceivably have deleterious effects on brain development. The end event in the disease is, of course, neurodegeneration; however the process by which that occurs may be rooted in the pathophysiology of aberrant development. To date, there have been multiple studies evaluating molecular and cellular mechanisms of abnormal development in HD, as well as studies investigating abnormal brain development in HD animal models. However, direct study of how mHTT could affect neurodevelopment in humans has not been approached until recent years. The current review will focus on the most recent findings of a unique study of children at-risk for HD, the Kids-HD study. This study evaluates brain structure and function in children ages 6–18 years old who are at risk for HD (have a parent or grand-parent with HD).

scholarly journals Normative range parenting and the developing brain: a scoping review of the literature

2019 ◽  
Author(s):  
Madeline Farber ◽  
Dylan Gee ◽  
Ahmad R. Hariri
Keyword(s):  
Mental Health ◽  
Brain Development ◽  
Scoping Review ◽  
Developmental Trajectories ◽  
Future Research ◽  
Risk And Resilience ◽  
Abuse And Neglect ◽  
Brain Structure And Function ◽  
And Function ◽  
The Impact

Studies of early adversity such as trauma, abuse, and neglect highlight the critical importance of quality caregiving in brain development and mental health. However, the impact of normative range variability in caregiving on such biobehavioral processes remains poorly understood. Thus, we lack an essential foundation for understanding broader, population-representative developmental mechanisms of risk and resilience. Here, we conduct a scoping review of the extant literature centered on the question, “Is variability in normative range parenting associated with variability in brain structure and function?” After removing duplicates and screening by title, abstract, and full-text, 23 records were included in a qualitative review. The most striking outcome of this review was not only how few studies have explored associations between brain development and normative range parenting, but also how little methodological consistency exists across published studies. In light of these limitations, we propose recommendations for future research on normative range parenting and brain development. In doing so, we hope to facilitate evidence-based research that will help inform policies and practices that yield optimal developmental trajectories and mental health.

scholarly journals Longitudinal structural and functional brain development in childhood and adolescence

2018 ◽  
Author(s):  
Kathryn L. Mills ◽  
Christian K. Tamnes
Keyword(s):  
Brain Development ◽  
Animal Studies ◽  
Diffusion Tensor ◽  
Childhood And Adolescence ◽  
Structural Development ◽  
Social Environments ◽  
Brain Structure And Function ◽  
Magnetic Resonance Imaging Mri ◽  
Methodological Considerations ◽  
And Function

The development of the human brain involves a prolonged course of maturation, enabling us to learn to navigate our complex social environments. Here, we give short introductions to post-mortem and animal studies on postnatal brain development and selected methodological considerations for longitudinal developmental neuroimaging. We then describe typical developmental changes in brain structure and function from childhood to adulthood. We focus on measurements derived from magnetic resonance imaging (MRI) and on longitudinal data. Specifically, we discuss brain structural development based on morphometry and diffusion tensor imaging (DTI) studies, and functional development based on resting-state and task-based functional MRI. Finally, we highlight selected current overarching research questions and argue that an important step in answering these questions is to study individual differences in longitudinal brain development.

scholarly journals Multimodal Magnetic Resonance Imaging Data Fusion Reveals Distinct Patterns of Abnormal Brain Structure and Function in Catatonia

2019 ◽  
Vol 46 (1) ◽  
pp. 202-210 ◽  
Author(s):  
Dusan Hirjak ◽  
Mahmoud Rashidi ◽  
Katharina M Kubera ◽  
Georg Northoff ◽  
Stefan Fritze ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Data Fusion ◽  
Brain Structure ◽  
Rating Scale ◽  
Structure And Function ◽  
Resonance Imaging ◽  
Brain Structure And Function ◽  
And Function ◽  
Abnormal Brain

Abstract Catatonia is a nosologically unspecific syndrome, which subsumes a plethora of mostly complex affective, motor, and behavioral phenomena. Although catatonia frequently occurs in schizophrenia spectrum disorders (SSD), specific patterns of abnormal brain structure and function underlying catatonia are unclear at present. Here, we used a multivariate data fusion technique for multimodal magnetic resonance imaging (MRI) data to investigate patterns of aberrant intrinsic neural activity (INA) and gray matter volume (GMV) in SSD patients with and without catatonia. Resting-state functional MRI and structural MRI data were collected from 87 right-handed SSD patients. Catatonic symptoms were examined on the Northoff Catatonia Rating Scale (NCRS). A multivariate analysis approach was used to examine co-altered patterns of INA and GMV. Following a categorical approach, we found predominantly frontothalamic and corticostriatal abnormalities in SSD patients with catatonia (NCRS total score ≥ 3; n = 24) when compared to SSD patients without catatonia (NCRS total score = 0; n = 22) matched for age, gender, education, and medication. Corticostriatal network was associated with NCRS affective scores. Following a dimensional approach, 33 SSD patients with catatonia according to Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Text Revision were identified. NCRS behavioral scores were associated with a joint structural and functional system that predominantly included cerebellar and prefrontal/cortical motor regions. NCRS affective scores were associated with frontoparietal INA. This study provides novel neuromechanistic insights into catatonia in SSD suggesting co-altered structure/function-interactions in neural systems subserving coordinated visuospatial functions and motor behavior.

scholarly journals Co-localisation of abnormal brain structure and function in specific language impairment

2012 ◽  
Vol 120 (3) ◽  
pp. 310-320 ◽  
Author(s):  
Nicholas A. Badcock ◽  
Dorothy V.M. Bishop ◽  
Mervyn J. Hardiman ◽  
Johanna G. Barry ◽  
Kate E. Watkins
Keyword(s):  
Language Impairment ◽  
Brain Structure ◽  
Specific Language Impairment ◽  
Structure And Function ◽  
Specific Language ◽  
Brain Structure And Function ◽  
And Function ◽  
Abnormal Brain

scholarly journals Defective AMH signaling disrupts GnRH neuron development and function and contributes to hypogonadotropic hypogonadism

eLife ◽  
2019 ◽  
Vol 8 ◽  
Author(s):  
Samuel Andrew Malone ◽  
Georgios E Papadakis ◽  
Andrea Messina ◽  
Nour El Houda Mimouni ◽  
Sara Trova ◽  
...  
Keyword(s):  
Hypogonadotropic Hypogonadism ◽  
Abnormal Development ◽  
Loss Of Function ◽  
Neuron Development ◽  
Motility Factor ◽  
Congenital Hypogonadotropic Hypogonadism ◽  
Whole Exome ◽  
Gnrh Neurons ◽  
And Function ◽  
Deficient Mice

Congenital hypogonadotropic hypogonadism (CHH) is a condition characterized by absent puberty and infertility due to gonadotropin releasing hormone (GnRH) deficiency, which is often associated with anosmia (Kallmann syndrome, KS). We identified loss-of-function heterozygous mutations in anti-Müllerian hormone (AMH) and its receptor, AMHR2, in 3% of CHH probands using whole-exome sequencing. We showed that during embryonic development, AMH is expressed in migratory GnRH neurons in both mouse and human fetuses and unconvered a novel function of AMH as a pro-motility factor for GnRH neurons. Pathohistological analysis of Amhr2-deficient mice showed abnormal development of the peripheral olfactory system and defective embryonic migration of the neuroendocrine GnRH cells to the basal forebrain, which results in reduced fertility in adults. Our findings highlight a novel role for AMH in the development and function of GnRH neurons and indicate that AMH signaling insufficiency contributes to the pathogenesis of CHH in humans.

WC4A BRAIN STRUCTURE AND FUNCTION IN THE AT RISK MENTAL STATE

2006 ◽  
Vol 86 ◽  
pp. S9
Author(s):  
P. McGuire ◽  
J. Woolley ◽  
M. Broome ◽  
O. Howes ◽  
M. Picchioni ◽  
...  
Keyword(s):  
At Risk ◽  
Mental State ◽  
Brain Structure ◽  
Structure And Function ◽  
Brain Structure And Function ◽  
And Function ◽  
At Risk Mental State

scholarly journals Absence of PTHrP Nuclear Localization and Carboxyl Terminus Sequences Leads to Abnormal Brain Development and Function

PLoS ONE ◽  
2012 ◽  
Vol 7 (7) ◽  
pp. e41542 ◽  
Author(s):  
Zhen Gu ◽  
Yahong Liu ◽  
Yongjie Zhang ◽  
Shulei Jin ◽  
Qi Chen ◽  
...  
Keyword(s):  
Brain Development ◽  
Nuclear Localization ◽  
Carboxyl Terminus ◽  
And Function ◽  
Abnormal Brain

scholarly journals Unbiased construction of a temporally consistent morphological atlas of neonatal brain development

2018 ◽  
Author(s):  
Andreas Schuh ◽  
Antonios Makropoulos ◽  
Emma C. Robinson ◽  
Lucilio Cordero-Grande ◽  
Emer Hughes ◽  
...  
Keyword(s):  
Brain Development ◽  
Longitudinal Change ◽  
Abnormal Development ◽  
Cross Sectional ◽  
Brain Images ◽  
Human Connectome Project ◽  
Mean Shape ◽  
Spatio Temporal ◽  
And Function

AbstractPremature birth increases the risk of developing neurocognitive and neurobe-havioural disorders. The mechanisms of altered brain development causing these disorders are yet unknown. Studying the morphology and function of the brain during maturation provides us not only with a better understanding of normal development, but may help us to identify causes of abnormal development and their consequences. A particular difficulty is to distinguish abnormal patterns of neurodevelopment from normal variation. The Developing Human Connectome Project (dHCP) seeks to create a detailed four-dimensional (4D) connectome of early life. This connectome may provide insights into normal as well as abnormal patterns of brain development. As part of this project, more than a thousand healthy fetal and neonatal brains will be scanned in vivo. This requires computational methods which scale well to larger data sets. We propose a novel groupwise method for the construction of a spatio-temporal model of mean morphology from cross-sectional brain scans at different gestational ages. This model scales linearly with the number of images and thus improves upon methods used to build existing public neonatal atlases, which derive correspondence between all pairs of images. By jointly estimating mean shape and longitudinal change, the atlas created with our method overcomes temporal inconsistencies, which are encountered when mean shape and intensity images are constructed separately for each time point. Using this approach, we have constructed a spatio-temporal atlas from 275 healthy neonates between 35 and 44 weeks post-menstrual age (PMA). The resulting atlas qualitatively preserves cortical details significantly better than publicly available atlases. This is moreover confirmed by a number of quantitative measures of the quality of the spatial normalisation and sharpness of the resulting template brain images.

An Exploration of ADHD and Comorbidity With Substance Abuse and Brain Development

2021 ◽  
pp. 245-258
Author(s):  
York Williams
Keyword(s):  
Brain Development ◽  
Animal Studies ◽  
Primary Treatment ◽  
Treatment Team ◽  
Long Term Effects ◽  
Hyperactivity Disorder ◽  
Brain Structure And Function ◽  
And Function ◽  
Psychodynamic Therapies

Methylphenidate (MPH) is the most commonly used drug to treat attention deficit/hyperactivity disorder (ADHD) in children effectively and safely. However, in spite of its widespread application throughout what is considered one of the most plastic and sensitive phases of brain development in children, very little is known to date about its long-term effects on brain structure and function leading well into later adolescence and adulthood. Additionally, there is scant information available to parents, clinicians, and clients with ADD/ADHD about the influence of MPH on brain development. More importantly, recent human and animal studies suggest that MPH alters the dopaminergic system with long-term effects beyond the termination of treatment. As such, a multimodal treatment with psychodynamic therapies can assist the treatment team to support the development of the client's pro-social skills in addition to medication treatment, thus reducing full reliance on MPH as the primary treatment for ADD/ADHD.

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