Abstract：
:Inborn errors of metabolism (IEMs) are particularly frequent as diseases of the nervous system. In the pediatric neurologic presentations of IEMs neurodevelopment is constantly disturbed and in fact, as far as biochemistry is involved, any kind of monogenic disease can become an IEM. Clinical features are very diverse and may present as a neurodevelopmental disorder (antenatal or late-onset), as well as an intermittent, a fixed chronic, or a progressive and late-onset neurodegenerative disorder. This also occurs within the same disorder in which a continuum spectrum of severity is frequently observed. In general, the small molecule defects have screening metabolic markers and many are treatable. By contrast only a few complex molecules defects have metabolic markers and most of them are not treatable so far. Recent molecular techniques have considerably contributed in the description of many new diseases and unexpected phenotypes. This paper provides a comprehensive list of IEMs that affect neurodevelopment and may also present with neurodegeneration. :Las enfermedades hereditarias del metabolismo (EHM) afectan con gran frecuencia al sistema nervioso. En sus formas neuropediátricas el neurodesarrollo se encuentra siempre afectado. En realidad, cualquier enfermedad monogénica cuya fisiopatología implique una alteración bioquímica puede ser considerada como una EHM. Las presentaciones clínicas son muy diversas en forma de trastorno del desarrollo antenatal o tardío, o bien de una enfermedad neurodegenerativa a brotes intermitentes, de carácter crónico o progresivo de debut tardío. En una misma enfermedad pueden darse diferentes espectros de gravedad. En general, las EHM que afectan a las moléculas pequeñas tienen marcadores metabólicos diagnósticos y muchas de ellas son tratables. Por contra, las EHM de las moléculas complejas tienen raramente marcadores metabólicos conocidos y la mayoría no tienen un tratamiento a día de hoy. Las técnicas de secuenciación masiva han permitido la descripción de numerosas nuevas enfermedades y fenotipos inesperados. Este artículo ofrece una lista completa de EHM que afectan el neurodesarrollo y pueden presentarse también como enfermedades neurodegenerativas. :Les maladies héréditaires du métabolisme (MHM) affectent très fréquemment le système nerveux. Dans leurs formes neuropédiatriques, le neurodéveloppement est toujours perturbé et dès l'instant qu'elle implique un mécanisme biochimique, toute maladie monogénique peut devenir une MHM. Les présentations cliniques sont très diverses et peuvent s'exprimer sous la forme d'un trouble du neurodéveloppement (anténatal ou à début tardif) ou d'une maladie neurodégénérative intermittente, chronique stable ou progressive à début tardif. Ceci peut aussi s'observer au sein d'une même maladie, ou un continuum de sévérité est fréquemment constaté. En général, les MHM affectant les petites molécules biochimiques ont des marqueurs métaboliques de dépistage et beaucoup sont traitables. Au contraire, les MHM affectant les molécules biochimiques complexes ont rarement des marqueurs métaboliques et la plupart d'entre elles ne sont pas traitables jusqu'à présent. Les techniques moléculaires récentes ont permis la description de nombreuses nouvelles maladies et de phénotypes inattendus. Cet article donne une liste complète des MHM affectant le neurodéveloppement et pouvant aussi se présenter comme des maladies neurodégénératives.
journal_name
Dialogues Clin Neuroscijournal_title
Dialogues in clinical neuroscienceauthors
Saudubray JM,Garcia-Cazorla Asubject
Has Abstractpub_date
2018-12-01 00:00:00pages
301-325issue
4eissn
1294-8322issn
1958-5969journal_volume
20pub_type
杂志文章,评审abstract：:The relationship between stress and infertility has been debated for years. Women with infertility report elevated levels of anxiety and depression, so it is clear that infertility causes stress. What is less clear, however, is whether or not stress causes infertility. The impact of distress on treatment outcome is di...
journal_title：Dialogues in clinical neuroscience
pub_type： 杂志文章,评审
doi：
更新日期：2018-03-01 00:00:00
abstract：:Cognitive symptoms are a core feature of schizophrenia and are related to an unfavorable disease outcome. So far, there are no satisfactory pharmacological approaches to address cognitive symptoms. For some time now, aerobic exercise has been demonstrated in various trials to be a promising candidate for this indicati...
journal_title：Dialogues in clinical neuroscience
pub_type： 杂志文章,meta分析,评审
doi：10.31887/DCNS.2019.21.3/aschmitt
更新日期：2019-09-01 00:00:00
abstract：:Obsessive-compulsive disorder (OCD) is a serious psychiatric disorder that affects approximately 2% of the populations of children and adults. Family aggregation studies have demonstrated that OCD is familial, and results from twin studies demonstrate that the familiality is due in part to genetic factors. Only three ...
journal_title：Dialogues in clinical neuroscience
pub_type： 杂志文章,评审
doi：
更新日期：2010-01-01 00:00:00
abstract：:Impairment of cognitive function is the central feature of dementia. Although, clinically, the cognitive deficit most often manifests itself as memory problems, a number of other areas of cognition are affected, and memory is but one of the cognitive skills compromised in dementia. Dementia with Lewy bodies, for examp...
journal_title：Dialogues in clinical neuroscience
pub_type： 杂志文章
doi：
更新日期：2003-03-01 00:00:00
abstract：:The links between late-life depression and the medical comorbidities that are often associated with it can be divided into two paths. The path from medical illness to depression reflects general mechanisms related to stress, disability, and loss, as well as more specific physiological mechanisms, including those relat...
journal_title：Dialogues in clinical neuroscience
pub_type： 杂志文章
doi：
更新日期：1999-09-01 00:00:00
abstract：:Contemporary biological psychiatry uses experimental animal models to increase our understanding of affective disorder pathogenesis. Modern anxiolytic drug discovery mainly targets specific pathways and molecular determinants within a single phenotypic domain. However, greater understanding of the mechanisms of action...
journal_title：Dialogues in clinical neuroscience
pub_type： 杂志文章,评审
doi：
更新日期：2015-09-01 00:00:00
abstract：:Despite the fact that 50 years have passed since the Nazi regime and the Holocaust the psychic sequelae are far from being overcome. The majority of Holocaust survivors and World War II veterans still list their experiences as the "most significant stressors" of their lives. The literature provides ample evidence that...
journal_title：Dialogues in clinical neuroscience
pub_type： 杂志文章
doi：
更新日期：2000-03-01 00:00:00
abstract：:Pharmacogenomic developments hold promise for personalized medicine in psychiatry with adjusted therapeutic doses, predictable responses, reduced adverse drug reactions, early diagnosis, and personal health planning. The prospects are exciting, but at the same time, these new techniques stand faced with important scie...
journal_title：Dialogues in clinical neuroscience
pub_type： 杂志文章,评审
doi：
更新日期：2009-01-01 00:00:00
abstract：:Recent research has overcome the old paradigms of the brain as an immunologically privileged organ, and of the exclusive role of neurotransmitters and neuropeptides as signal transducers in the central nervous system. Growing evidence suggests that the signal proteins of the immune system - the cytokines - are also in...
journal_title：Dialogues in clinical neuroscience
pub_type： 杂志文章
doi：
更新日期：2003-06-01 00:00:00
abstract：:Psychiatric disorders are complex multifactorial disorders involving chronic alterations in neural circuit structure and function. While genetic factors play a role in the etiology of disorders such as depression, addiction, and schizophrenia, relatively high rates of discordance among identical twins clearly point to...
journal_title：Dialogues in clinical neuroscience
pub_type： 杂志文章,评审
doi：
更新日期：2014-09-01 00:00:00
abstract：:This review serves as a systematic guide to the genetics of generalized anxiety disorder (GAD) and further focuses on anxiety-relevant endophenotypes, such as pathological worry fear of uncertainty, and neuroticism. We inspect clinical genetic evidence for the familialityl heritability of GAD and cross-disorder phenot...
journal_title：Dialogues in clinical neuroscience
pub_type： 杂志文章,评审
doi：
更新日期：2017-06-01 00:00:00
abstract：:Alcohol dependence is a frequent, chronic, relapsing, and incurable disease with enormous societal costs. Thus, alcoholism therapy and research into its outcome are of major importance for public health. The present article will: (i) give a brief overview of the epidemiology, pathogenesis, and treatment outcomes of al...
journal_title：Dialogues in clinical neuroscience
pub_type： 临床试验,杂志文章
doi：
更新日期：2007-01-01 00:00:00
abstract：:The current clinical use of psychotropic drugs is transnosologically oriented. This is facilitated by the current classification of mental disorders (International Classification of Diseases, 10th Revision [ICD-10]) and is perhaps justified if depression and psychosis (taken here as examples) are considered as being c...
journal_title：Dialogues in clinical neuroscience
pub_type： 杂志文章
doi：
更新日期：1999-12-01 00:00:00
abstract：:Epidemiological studies show that anxiety disorders are highly prevalent and an important cause of functional impairment; they constitute the most frequent menial disorders in the community. Phobias are the most common with the highest rates for simple phobia and agoraphobia. Panic disorder (PD) and obsessive-compulsi...
journal_title：Dialogues in clinical neuroscience
pub_type： 杂志文章
doi：
更新日期：2003-09-01 00:00:00
abstract：:Every human is unique. We differ in our genomes, environment, behavior, disease history, and past and current medical treatment-a complex catalog of differences that often leads to variations in the way each of us responds to a particular therapy. We argue here that true personalization of drug therapies will rely on ...
journal_title：Dialogues in clinical neuroscience
pub_type： 杂志文章
doi：
更新日期：2016-09-01 00:00:00
abstract：:Major depressive disorder (MDD) is a major public health concern. Despite tremendous advances, the pathogenic mechanisms associated with MDD are still unclear. Moreover, a significant number of MDD subjects do not respond to the currently available medication. MicroRNAs (miRNAs) are a class of small noncoding RNAs tha...
journal_title：Dialogues in clinical neuroscience
pub_type： 杂志文章,评审
doi：
更新日期：2014-03-01 00:00:00
abstract：:The traditional categorical classification system and new diagnostic systems will be discussed in this issue. . :Mettre la traduction ES. :Mettre la traduction FR. ...
journal_title：Dialogues in clinical neuroscience
pub_type： 社论
doi：10.31887/DCNS.2020.22.1/fthibaut
更新日期：2020-03-01 00:00:00
abstract：:DESPITE THE IMPORTANCE OF NUMEROUS PSYCHOSOCIAL FACTORS, AT ITS CORE, DRUG ADDICTION INVOLVES A BIOLOGICAL PROCESS: the ability of repeated exposure to a drug of abuse to induce changes in a vulnerable brain that drive the compulsive seeking and taking of drugs, and loss of control over drug use, that define a state o...
journal_title：Dialogues in clinical neuroscience
pub_type： 杂志文章,评审
doi：
更新日期：2013-12-01 00:00:00
abstract：:We now appreciate that estrogen is a pleiotropic gonadal steroid that exerts profound effects on the plasticity and cell survival of the adult brain. Over the past century, the life span of women has increased, but the age of the menopause remains constant. This means that women may now live over one third of their li...
journal_title：Dialogues in clinical neuroscience
pub_type： 杂志文章
doi：
更新日期：2002-06-01 00:00:00
abstract：:Understanding individual response to a drug-what determines its efficacy and tolerability-is the major bottleneck in current drug development and clinical trials. Intracellular response and metabolism, for example through cytochrome P-450 enzymes, may either enhance or decrease the effect of different drugs, dependent...
journal_title：Dialogues in clinical neuroscience
pub_type： 杂志文章,评审
doi：
更新日期：2006-01-01 00:00:00
abstract：:Depression can occur in association with virtually all the other psychiatric and physical diagnoses. Physical illness increases the risk of developing severe depressive illness. There are two broadly different mechanisms. The most obvious has a psychological or cognitive mechanism. Thus, the illness may provide the li...
journal_title：Dialogues in clinical neuroscience
pub_type： 杂志文章,评审
doi：
更新日期：2006-01-01 00:00:00
abstract：:Human memory is not a literal reproduction of the past, but instead relies on constructive processes that are sometimes prone to error and distortion. Understanding of constructive memory has accelerated during recent years as a result of research that has linked together its cognitive and neural bases. This article f...
journal_title：Dialogues in clinical neuroscience
pub_type： 杂志文章,评审
doi：
更新日期：2012-03-01 00:00:00
abstract：:Schizophrenia and bipolar disorder have a largely unknown pathophysiology and etiology, but they are highly heritable. Although linkage and association studies have identified a series of chromosomal regions likely to contain susceptibility genes, progress in identifying causative genes has been largely disappointing....
journal_title：Dialogues in clinical neuroscience
pub_type： 杂志文章,评审
doi：
更新日期：2010-01-01 00:00:00
abstract：:The study of molecular clock mechanisms in psychiatric disorders is gaining significant interest due to data suggesting that a misalignment between the endogenous circadian system and the sleep-wake cycle might contribute to the clinical status of patients suffering from a variety of psychiatric disorders. Sleep distu...
journal_title：Dialogues in clinical neuroscience
pub_type： 杂志文章,评审
doi：
更新日期：2007-01-01 00:00:00
abstract：:It has become increasingly clear that males and females differ even more dramatically than we previously thought. Not only do they exhibit differing responses to stress and environmental experience, but they can also respond in opposite directions. In rats, it has been shown that exposure to an acute stressful event c...
journal_title：Dialogues in clinical neuroscience
pub_type： 杂志文章
doi：
更新日期：2002-06-01 00:00:00
abstract：:Partial remission from depression, with residual symptoms, is an important problem in depression. This paper reviews the frequency and features of this outcome, and its association with relapse. Residual symptoms occur in many depressed patients after acute treatment. They span the typical symptoms of depression, exce...
journal_title：Dialogues in clinical neuroscience
pub_type： 杂志文章,评审
doi：
更新日期：2008-01-01 00:00:00
abstract：:Post-traumatic stress disorder (PTSD) may be associated with long-lasting psychological suffering, distressing psychosocial disability, markedly reduced health-related quality of life, and increased morbidity and mortality in a subgroup of individuals in the aftermath of serious traumatic events. Both etiopathogenesis...
journal_title：Dialogues in clinical neuroscience
pub_type： 杂志文章,评审
doi：
更新日期：2014-06-01 00:00:00
abstract：:Schizophrenia (SZ) and bipolar disorder (BPD) patients show a downregulation of GAD67, reelin (RELN), brain-derived neurotrophic factor (BDNF), and other genes expressed in telencephalic GABAergic and glutamatergic neurons. This downregulation is associated with the enrichment of 5-methylcytosine and 5-hydroxymethylcy...
journal_title：Dialogues in clinical neuroscience
pub_type： 杂志文章,评审
doi：
更新日期：2014-09-01 00:00:00
abstract：:Caffeine is not considered addictive, and in animals it does not trigger metabolic increases or dopamine release in brain areas involved in reinforcement and reward. Our objective was to measure caffeine effects on cerebral perfusion in humans using single photon emission computed tomography with a specific focus on a...
journal_title：Dialogues in clinical neuroscience
pub_type： 临床试验,杂志文章,随机对照试验
doi：
更新日期：2010-01-01 00:00:00
abstract：:Similar to other complex disorders, the etiology of Alzheimer disease is multifactorial and characterized by an interplay of biological and environmental risk and protective factors. Potentially modifiable risk factors have emerged from epidemiological research and strategies to prevent neurodegeneration and dementia ...
journal_title：Dialogues in clinical neuroscience
pub_type： 杂志文章
doi：
更新日期：2019-03-01 00:00:00
