The differential diagnosis of chorea

Chorea is a hyperkinetic movement disorder characterised by excessive spontaneous movements that are irregularly timed, randomly distributed and abrupt. In this article, the authors discuss the causes of chorea, particularly Huntington's disease and the genetic syndromes that may resemble it, including HDL1-3, inherited prion disease, spinocerebellar ataxias 1, 3 and 17, neuroacanthocytosis, dentatorubro-pallidoluysian atrophy (DRPLA), brain iron accumulation disorders, Wilson's disease, benign hereditary chorea, Friedreich's ataxia and mitochondrial disease. Acquired causes of chorea include vascular disease, post-infective autoimmune central nervous system disorders (PANDAS), drugs, systemic lupus erythematosus, antiphospholipid syndrome, thyrotoxicosis, AIDS, chorea gravidarum, and polycythaemia rubra vera. The authors suggest an approach to the clinical assessment of chorea, the value of investigations, including genetic tests (for which they offer a structured framework highlighting the importance of prior counselling), and finally briefly discuss symptomatic drug treatment of chorea

Prion degradation pathways: Potential for therapeutic intervention

Prion diseases are fatal neurodegenerative disorders. Pathology is closely linked to the misfolding of native cellular PrP(C) into the disease-associated form PrP(Sc) that accumulates in the brain as disease progresses. Although treatments have yet to be developed, strategies aimed at stimulating the degradation of PrP(Sc) have shown efficacy in experimental models of prion disease. Here, we describe the cellular pathways that mediate PrP(Sc) degradation and review possible targets for therapeutic intervention. This article is part of a Special Issue entitled 'Neuronal Protein'

Hidden Interactions of Sterile Neutrinos As a Probe For New Physics

Recent results from neutrino experiments show evidence for light sterile neutrinos which do not have any Standard Model interactions. In this work we study the hidden interaction of sterile neutrinos with an "MeV scale" gauge boson (the $\nu_s$HI model) with mass $M_X$ and leptonic coupling $g^\prime_l$. By performing an analysis on the $\nu_s$HI model using the data of the MINOS neutrino experiment we find that the values above $G_X/G_F=92.4$ are excluded by more than $2\sigma$ C.L., where $G_F$ is the Fermi constant and $G_X$ is the field strength of the $\nu_s$HI model. Using this model we can also probe other new physics scenarios. We find that the region allowed by the $(g-2)_\mu$ discrepancy is entirely ruled out for $M_X\lesssim 100$ MeV. Finally, the secret interaction of sterile neutrinos has been to solve a conflict between the sterile neutrinos and cosmology. It is shown here that such an interaction is excluded by MINOS for $g^\prime_s> 1.6\times10^{-2}$. This exclusion, however, does depend on the value of $g_l^{\prime}$.Comment: 11 pages, 2 figures, Improved version with new figures and further details. Accepted in PR

Biomarkers for Huntington's disease: an update

Huntington's disease (HD) is a devastating autosomal-dominant neurodegenerative condition caused by a CAG repeat expansion in the gene encoding huntingtin which is characterised by progressive motor impairment, cognitive decline and neuropsychiatric disturbances. There are currently no disease-modifying treatments available to patients, but a number of therapeutic strategies are currently being investigated, chief among them are nucleotide-based 'gene silencing' approaches, modulation of huntingtin post-translation modification and enhancing clearance of the mutant protein. In 2008, the authors' review highlighted the need to develop and validate biomarkers and provided a systematic head-to-head comparison of such measures. They searched the PubMed database for publications, which covered each of the subheadings mentioned below. They identified from these list studies which had relevance to biomarker development, as defined in their previous review. Building on a tradition of collaborative research in HD, great advances have been made in the field since that time and a range of outcome measures are now being recommended in order to assess efficacy in future therapeutic trials

A method for solving systems of non-linear differential equations with moving singularities

We present a method for solving a class of initial valued, coupled, non-linear differential equations with `moving singularities' subject to some subsidiary conditions. We show that this type of singularities can be adequately treated by establishing certain `moving' jump conditions across them. We show how a first integral of the differential equations, if available, can also be used for checking the accuracy of the numerical solution.Comment: 9 pages, 7 eps figures, to appear in Comput. Phys. Co

Future DUNE constraints on EFT

In the near future, fundamental interactions at high-energy scales may be most efficiently studied via precision measurements at low energies. A universal language to assemble and interpret precision measurements is the so-called SMEFT, which is an effective field theory (EFT) where the Standard Model (SM) Lagrangian is extended by higher-dimensional operators. In this paper we investigate the possible impact of the DUNE neutrino experiment on constraining the SMEFT. The unprecedented neutrino flux offers an opportunity to greatly improve the current limits via precision measurements of the trident production and neutrino scattering off electrons and nuclei in the DUNE near detector. We quantify the DUNE sensitivity to dimension-6 operators in the SMEFT Lagrangian, and find that in some cases operators suppressed by an O(30) TeV scale can be probed. We also compare the DUNE reach to that of future experiments involving atomic parity violation and polarization asymmetry in electron scattering, which are sensitive to an overlapping set of SMEFT parameters.Comment: 23 pages, 4 figures; v2, agrees the version published in JHE

Detrended Fluctuation analysis of Bach's Inventions and Sinfonias pitches

Detrended Fluctuation Analysis (DFA), suitable for the analysis of nonstationary time series, is used to investigate power law in some of the Bach's pitches series. Using DFA method, which also is a well-established method for the detection of long-range correlations, frequency series of Bach's pitches have been analyzed. In this view we find same Hurts exponents in the range (0.7-0.8) in his Inventions and sinfonia.Comment: 5 pages, 4 figure