Movement Disorders: Official Journal of the Movement Disorder Society
Wilson's disease (WD) is an autosomal recessive disorder characterized by the functional disruption of the copper-transporting protein adenosine triphosphatase 7B (ATP-ase 7B). The disease is caused by mutations in ATP7B gene. It seems that the type of mutation in ATP7B only to some degree determines phenotypic manifestation of WD. We examined two pairs of monozygotic twins discordant for WD phenotype. The first set of twins were ATP7B compound heterozygotes c.3207C>A (p.H1069Q)/c.1211_1212insA (p.N404Kfs).
Considerable evidence suggests a crucial role for the epigenetic regulation of brain-derived neurotrophic factor (BDNF) in the pathophysiology of major depressive disorder (MDD). However, the relationship between BDNF DNA methylation and white matter (WM) integrity in MDD has not yet been investigated. In the current study, we examined the association between the DNA methylation status of the BDNF promoter region and WM integrity in MDD.
We propose that neural representations of motivational drives, including sexual desire, hunger, thirst, fear, power-dominance, the motivational aspect of pain, the need for sleep, and nurturance, are represented in four areas in the brain. These are located in the medial hypothalamic/preoptic area, the periaqueductal gray matter (PAG) in the midbrain/pons, the midline and intralaminar thalamic nuclei, and in the anterior part of the mesial cortex, including the medial prefrontal and anterior cingulate areas.
The ethics of psychosurgery involve questions of moral philosophy and pragmatism in alleviating human suffering. The weighing of scientific data along with philosophical oughts and shoulds is required. The medical literature indicates definite efficacy for some kinds of limbic surgery, mainly cingulotomy and capsulotomy, in some kinds of conditions, namely major depression, pain and anxiety. The relative utility of these procedures given the severity of the illnesses and the safety of the procedures described is significant.
This review presents an analysis of the sensory and motor mechanisms as they are now understood that cause the immobility reflex (IR). Of the sensory systems that conceivably could trigger and sustain the IR, as commonly induced experimentally by inversion and manual restraint, evidence has been presented to eliminate some senses (vestibular, vision, sound, many visceral sensations, olfaction, taste, temperature), while incriminating tactile and proprioceptive influences.