Novel SCARB2 mutation in action myoclonus-renal failure syndrome and evaluation of SCARB2 mutations in isolated AMRF features

Background: Action myoclonus-renal failure syndrome is a hereditary form of progressive myoclonus epilepsy associated with renal failure. It is considered to be an autosomal-recessive disease related to loss-of-function mutations in SCARB2. We studied a German AMRF family, additionally showing signs of demyelinating polyneuropathy and dilated cardiomyopathy. To test the hypothesis whether isolated appearance of individual AMRF syndrome features could be related to heterozygote SCARB2 mutations, we screened for SCARB2 mutations in unrelated patients showing isolated AMRF features. Methods: In the AMRF family all exons of SCARB2 were analyzed by Sanger sequencing. The mutation screening of unrelated patients with isolated AMRF features affected by either epilepsy (n = 103, progressive myoclonus epilepsy or generalized epilepsy), demyelinating polyneuropathy (n = 103), renal failure (n = 192) or dilated cardiomyopathy (n = 85) was performed as high resolution melting curve analysis of the SCARB2 exons. Results: A novel homozygous 1 bp deletion (c.111delC) in SCARB2 was found by sequencing three affected homozygous siblings of the affected family. A heterozygous sister showed generalized seizures and reduction of nerve conduction velocity in her legs. No mutations were found in the epilepsy, renal failure or dilated cardiomyopathy samples. In the polyneuropathy sample two individuals with demyelinating disease were found to be carriers of a SCARB2 frameshift mutation (c.666delCCTTA). Conclusions: Our findings indicate that demyelinating polyneuropathy and dilated cardiomyopathy are part of the action myoclonus-renal failure syndrome. Moreover, they raise the possibility that in rare cases heterozygous SCARB2 mutations may be associated with PNP features

Transient Receptor Potential Channel Polymorphisms Are Associated with the Somatosensory Function in Neuropathic Pain Patients

Transient receptor potential channels are important mediators of thermal and mechanical stimuli and play an important role in neuropathic pain. The contribution of hereditary variants in the genes of transient receptor potential channels to neuropathic pain is unknown. We investigated the frequency of transient receptor potential ankyrin 1, transient receptor potential melastin 8 and transient receptor potential vanilloid 1 single nucleotide polymorphisms and their impact on somatosensory abnormalities in neuropathic pain patients. Within the German Research Network on Neuropathic Pain (Deutscher Forscbungsverbund Neuropathischer Schmerz) 371 neuropathic pain patients were phenotypically characterized using standardized quantitative sensory testing. Pyrosequencing was employed to determine a total of eleven single nucleotide polymorphisms in transient receptor potential channel genes of the neuropathic pain patients and a cohort of 253 German healthy volunteers. Associations of quantitative sensory testing parameters and single nucleotide polymorphisms between and within groups and subgroups, based on sensory phenotypes, were analyzed. Single nucleotide polymorphisms frequencies did not differ between both the cohorts. However, in neuropathic pain patients transient receptor potential ankyrin 1 710G>A (rs920829, E179K) was associated with the presence of paradoxical heat sensation (p = 0.03), and transient receptor potential vanilloid 1 1911A>G (rs8065080, I585V) with cold hypoalgesia (p = 0.0035). Two main subgroups characterized by preserved (1) and impaired (2) sensory function were identified. In subgroup 1 transient receptor potential vanilloid 1 1911A>G led to significantly less heat hyperalgesia, pinprick hyperalgesia and mechanical hypaesthesia (p = 0.006, p = 0.005 and p<0.001) and transient receptor potential vanilloid 1 1103C>G (rs222747, M315I) to cold hypaesthesia (p = 0.002), but there was absence of associations in subgroup 2. In this study we found no evidence that genetic variants of transient receptor potential channels are involved in the expression of neuropathic pain, but transient receptor potential channel polymorphisms contributed significantly to the somatosensory abnormalities of neuropathic pain patients

Maihöfner C. Cognitive correlates of “neglect-like syndrome” in patients with complex regional pain syndrome. Pain 2012

a b s t r a c t Patients with complex regional pain syndrome (CRPS) often show distinct neurocognitive dysfunctions, which were initially termed &apos;&apos;neglect-like symptoms.&apos;&apos; So far, particularly the patients&apos; feelings about the affected extremity, motor, and sensory aspects of the &apos;&apos;neglect-like symptoms&apos;&apos; have been investigated, possibly pointing to a disturbed body schema. Because patients with classical neurological neglect show diminished awareness regarding the perception of their body, as well as of the space around them, our hypothesis was that CRPS patients exhibit some signs of personal neglect and extrapersonal visuospatial problems over and beyond those seen in patients simply suffering from limb pain. We used quantitative sensory testing and motor assessment aimed at detecting motor and sensory loss, a standardized questionnaire calculating a neglect score, and applied a detailed neuropsychological test battery assessing different parietal lobe functions, including visual neglect. We examined 20 CRPS patients and 2 matched control groups, one consisting of healthy subjects and the other one of patients with limb pain other than CRPS. Results show significant higher neglect scores for CRPS patients and the pain control group, but interestingly, CRPS patients and pain patients were indistinguishable. The results of the neuropsychological test battery did not demonstrate systematic variances, which would be indicative of a classical neurological neglect in CRPS patients, even though there were 3 CRPS patients who differed P2 SD from the mean of our healthy control group, with poorer results in P3 different tests. We assume that the &apos;&apos;neglect-like syndrome&apos;&apos; in most CRPS patients is different from typical neglect.

Effekte von blauem Licht auf Somatosensorik und neuropathischen Schmerz

Tierexperimentell konnte nachgewiesen werden, dass spezifische Ionenkanäle (vor allem TRPA1) des nozizeptiven Systems nachhaltig durch die Exposition mit blauem Licht moduliert werden können. Durch Nachweis der Wirksamkeit von nicht-visuellen Effekten einer Lichtexposition auf Somatosensorik und Nozizeption beim Menschen könnte der Einsatz einer Lichttherapie bei Patienten mit Erkrankungen des somatosensorischen Systems, insbesondere neuropathischen Schmerzen, von großer Bedeutung sein

Does participation in art classes influence performance on two different cognitive tasks?

OBJECTIVES: Effects of two mentally stimulating art interventions on processing speed and visuo-spatial cognition were compared in three samples. METHOD: In a randomized 10-week art intervention study with a pre-post follow-up design, 113 adults (27 healthy older adults with subjective memory complaints, 50 healthy older adults and 36 healthy younger adults) were randomly assigned to one of two groups: visual art production or cognitive art evaluation, where the participants either produced or evaluated art. ANOVAs with repeated measures were computed to observe effects on the Symbol-Digit Test, and the Stick Test. RESULTS: Significant Time effects were found with regard to processing speed and visuo-spatial cognition. Additionally, there was found a significant Time × Sample interaction for processing speed. The effects proved robust after testing for education and adding sex as additional factor. CONCLUSION: Mental stimulation by participation in art classes leads to an improvement of processing speed and visuo-spatial cognition. Further investigation is required to improve understanding of the potential impact of art intervention on cognitive abilities across adulthood

Specific and Unspecific Auditory Hallucinations in Patients with Schizophrenia: A Magnetoencephalographic Study

Background/Aims: Different neuroimaging techniques have indicated that auditory association and language cortices are active in patients with schizophrenia and auditory hallucinations. Auditory verbal hallucinations are thought to arise from a disorder of inner speech, but little is known about their origin. Methods: Spontaneous magnetoencephalographic (MEG) measurements were recorded with a 74-channel two-sensor system (BIOMAGNES II) in 16 patients with schizophrenia and 8 healthy subjects in frequency ranges from 2 to 6 and 12.5 to 30 Hz. Eight patients had auditory hallucinations during the MEG recordings. Results: The total group of patients with schizophrenia showed a statistically significant elevation of the number of dipoles and dipole density maxima in slow frequency ranges compared to healthy subjects (p ! 0.001). Significant dipole activities in the fast frequency range were only found during auditory hallucinations (p ! 0.001). Dipole localization was concentrated in frontal and temporal regions depending on differ- ent qualities of hallucinations. In patients with external imperative voices we found a parallel activation of the dorsolateral frontal and temporal cortex. Conclusion: We conclude that various auditory hallucinations in schizophrenia are induced by different neuronal activities and may be represented by different cortical regions

Blue-light treatment reduces spontaneous and evoked pain in a human experimental pain model

Introduction: Chronic pain is a frequent severe disease and often associated with anxiety, depression, insomnia, disability, and reduced quality of life. This maladaptive condition is further characterized by sensory loss, hyperalgesia, and allodynia. Blue light has been hypothesized to modulate sensory neurons and thereby influence nociception. Objectives: Here, we compared the effects of blue light vs red light and thermal control on pain sensation in a human experimental pain model. Methods: Pain, hyperalgesia, and allodynia were induced in 30 healthy volunteers through high-density transcutaneous electrical stimulation. Subsequently, blue light, red light, or thermal control treatment was applied in a cross-over design. The nonvisual effects of the respective light treatments were examined using a well-established quantitative sensory testing protocol. Somatosensory parameters as well as pain intensity and quality were scored. Results: Blue light substantially reduced spontaneous pain as assessed by numeric rating scale pain scoring. Similarly, pain quality was significantly altered as assessed by the German counterpart of the McGill Pain Questionnaire. Furthermore, blue light showed antihyperalgesic, antiallodynic, and antihypesthesic effects in contrast to red light or thermal control treatment. Conclusion: Blue-light phototherapy ameliorates pain intensity and quality in a human experimental pain model and reveals antihyperalgesic, antiallodynic, and antihypesthesic effects. Therefore, blue-light phototherapy may be a novel approach to treat pain in multiple conditions

How art changes your brain: differential effects of visual art production and cognitive art evaluation on functional brain connectivity.

Visual art represents a powerful resource for mental and physical well-being. However, little is known about the underlying effects at a neural level. A critical question is whether visual art production and cognitive art evaluation may have different effects on the functional interplay of the brain's default mode network (DMN). We used fMRI to investigate the DMN of a non-clinical sample of 28 post-retirement adults (63.71 years ±3.52 SD) before (T0) and after (T1) weekly participation in two different 10-week-long art interventions. Participants were randomly assigned to groups stratified by gender and age. In the visual art production group 14 participants actively produced art in an art class. In the cognitive art evaluation group 14 participants cognitively evaluated artwork at a museum. The DMN of both groups was identified by using a seed voxel correlation analysis (SCA) in the posterior cingulated cortex (PCC/preCUN). An analysis of covariance (ANCOVA) was employed to relate fMRI data to psychological resilience which was measured with the brief German counterpart of the Resilience Scale (RS-11). We observed that the visual art production group showed greater spatial improvement in functional connectivity of PCC/preCUN to the frontal and parietal cortices from T0 to T1 than the cognitive art evaluation group. Moreover, the functional connectivity in the visual art production group was related to psychological resilience (i.e., stress resistance) at T1. Our findings are the first to demonstrate the neural effects of visual art production on psychological resilience in adulthood