Is there a genetic susceptibility to idiopathic parkinsonism?

The search for the etiology of idiopathic parkinsonism (IP) has been difficult and largely unsuccessful. Recently, there has been renewed interest in the possibility that there are genetic susceptibility loci for IP. Part of this interest has been spurred by recent advances in molecular genetics. This review analyzes the available genetic epidemiology and family study data (clinical and molecular genetic) as they relate to IP and parkinsonism plus syndromes (PPS). Analysis of data from families with several members having IP or PPS suggests that this approach may not identify susceptibility genes for IP. When the genes responsible for the syndromes affecting multiplex families are identified, they are likely to provide insight into the pathogenesis of IP and may be the basis for developing a more useful nosology. The molecular genetic study of PPS and the mapping of the wld locus may herald rapid advances in understanding these syndromes.     

Is there a need to redefine Parkinson's disease?

Parkinson's disease (PD) has initially been described as a clinical syndrome, although the exact definition has changed over the past centuries. The inclusion of the pathological changes added another level of complexity, with Lewy bodies, synuclein deposits and neuronal loss in the substantia nigra being used alternatively. A third level of complexity was added with the recognition of genetic mutations resulting in parkinsonism, sometimes with and sometimes without Lewy body deposition, and the identification of frequent additional important pre-motor manifestations. These different points of view on the definition of PD have important implications on the study of the etiology and even the therapy of PD.     

Velocardiofacial syndrome: Is there a neuropsychiatric phenotype?

A neuropsychiatric phenotype speci.c to the velocardiofacial syndrome (VCFS) has not yet been identi.ed. Neuropsychological research suggests that children with VCFS have problems in the domains of cognition, attention, and social interaction. Preliminary psychiatric studies of children and adolescents with VCFS suggest that they may be at higher risk than their nonaffected peers to develop mood disorders (including bipolar disorder), anxiety disorders, and attention de.cit disorders. An unresolved question remains whether adults are at higher risk to develop psychotic mood disorders or schizophrenia in early adulthood. A research paradigm developed by Robins and Guze for the validation of psychiatric disorders may be helpful. Systematic studies in the areas of phenomenology, neurobiology, heredity, and the natural course of VCFS may clarify its psychiatric manifestations. Better understanding of the neuropsychiatric phenotype associated with VCFS will better inform ongoing genetic research. The study of VCFS holds the potential to give important insight into the pathogenesis of psychiatric disorders.     

COVID-19 and seizures: Is there a link?

The rapid spread of the SARS-CoV-2 pandemic poses particular challenges to the management of persons with chronic disease. Reports of a possible neuroinvasiveness of SARS-CoV-2 as well as pathophysiological mechanisms and indirect consequences in severe COVID-19 cases raise the question of whether the infection can be associated with an increased risk of seizure recurrence or the development of new onset and acute symptomatic seizures. Although the literature does not provide relevant evidence for seizure worsening in persons with epilepsy during the course of a SARS-CoV-2 infection, there are theoretical risks, for example, seizures triggered by fever. Moreover, a severe disease course and advanced disease stages can, for instance, result in hypoxic encephalopathy, cerebrovascular events, and cytokine storm, which may trigger the development of acute seizures. This is further confirmed by reports of occasional seizures in COVID-19 patients. Although the low number of reports so far suggests that the risk may be relatively low, the reports indicate that an early neurological manifestation with seizures should not be ruled out. In the context of these cases, we discuss possible pathophysiological mechanisms that may trigger ictogenesis in patients with SARS-CoV-2 infection.     

Is there a restless arms syndrome?

Three patients are reported who had painful numbness in upper extremities regressing temporarily after performing rather intensive movements. Analgesics are non efficacious in relieving this symptom. The observed painful syndrome relieved for some time by movements of the upper extremities seems to be an analogy of the restless legs syndrome. Perhaps the designation "restless arms syndrome" could be introduced.     

Is there a lamotrigine withdrawal syndrome?

OBJECTIVES: To report a peculiar observation of a patient who developed a psychomotor inhibition state after a rapid cessation of lamotrigine (LTG). RESULTS: This man was referred to us at the age of 26 years for presurgical evaluation. His treatment [valproate (VPA), 1200 mg/day and LTG, 200 mg/day] was quickly decreased and discontinued after 4 days in order to record seizures. Because LTG was ineffective on seizures control, it was decided to stop it definitively. After a few days, he became anhedonic. He had a tremor, a slight tachycardia and an important hyperhydrosis of the hands. He was considered as having a withdrawal reaction to LTG which was confirmed by spontaneous resolution after a few days. CONCLUSIONS: Withdrawal syndrome caused by anti-epileptic drugs has been rarely reported. However, in our personal experience of patients monitored for epilepsy surgery, many patients complained of minor reactions when the treatments were quickly decreased. Severe reactions are exceptional and may be explained in this case by the pharmacodynamic effects of LTG. It has indeed been suggested that LTG could have psychostimulant and antidepressive effects.     

Is there a common pathway to developing ASD and PTSD symptoms?

Numerous studies have identified risk factors for acute and long-term posttraumatic stress symptoms following traumatic exposure. However, little is known about whether there are common pathways to the development of acute stress disorder (ASD) and posttraumatic stress disorder (PTSD). Research suggests that a common path to ASD and PTSD may lie in peritraumatic responses and cognitions. The results of structural equation modeling in a national sample of Danish bank robbery victims (N = 450) show that peritraumatic panic, anxiety sensitivity, and negative cognitions about self were significant common risk factors for both ASD severity and PTSD severity when controlled for the effect of the other risk factors. The strongest common risk factor was negative cognitions about self. Future research should focus on replicating these results as they point to possible areas of preventive and treatment actions against the development of traumatic stress symptoms.     

Autism Spectrum Disorder and Video Games: Restricted Interests or Addiction?

High rates of video game use in Autism Spectrum Disorder (ASD) have often been reported. This might suggest more prevalent video gaming addiction in this population, but elevated video game use could also be explained by restricted interest in video games. We thus reviewed the literature on video game use in ASD to examine the role of vulnerability for video game addiction and the role of restricted interest in video gaming. We conducted a search following PRISMA guidelines. From 511 papers, 15 were included. This review demonstrates that the high rates of video game use in boys and young males with ASD without intellectual disabilities can be predominantly explained by gaming addiction. However, an effect of restricted interest in video games cannot be excluded. Moreover, addictive process and restricted interest may interact. This result raises several issues for differentiating between video game addiction and restricted interest in regard to assessment, overlapping characteristics and interventions. Based on the results, we make recommendations for caregivers and clinicians on the management of problematic video game use in ASD.

     

Exercise,sleep and cytokines: Is there a relation?

Physical exercise is a modality of non-pharmacological treatment for sleep disorders. Contradicting results are still found in studies of the effect of exercise on sleep. Among the substances that have been described as sleep modulators, cytokines produced during the recovery period after an acute exercise session are very important. Various studies have verified that physical exercise may alter the plasma concentration of the many pro-inflammatory cytokines that may in turn modulate sleep. A number of factors seem to mediate this effect of exercise, including duration, intensity, and form of exercise, in addition to temperature and metabolic alterations. The mechanisms through which exercise promotes alterations in sleep architecture remain to be clarified. Researchers speculate that many hormones and substances produced by metabolism may affect sleep. Therefore, the object of this review is to discuss the effects of exercise and cytokines on sleep, and the relation between these two sleep-regulating components, raising the hypothesis that the alterations in sleep promoted by exercise are mediated by cytokines, which, by increasing the nREM sleep phase, would stimulate the regenerating characteristics of sleep.