News

  • August
    8th

    Twisting mice move the dystonia field forward.

    Petersén A, Kirik D. - August 8, 2014

    A common form of the hyperkinetic movement disorder dystonia is caused by mutations in the gene TOR1A (located within the DYT1 locus), which encodes the ATPase torsinA. The underlying neurobiological mechanisms that result in dystonia are poorly understood, and progress in the field has been hampered by the absence of a dystonia-like phenotype in animal models with genetic modification of Tor1a. In this issue of the JCI, Liang et al.

  • August
    8th

    Recent advances in the genetics of dystonia.

    Xiao J, Vemula SR, LeDoux MS. - August 8, 2014

    Dystonia, a common and genetically heterogeneous neurological disorder, was recently defined as "a movement disorder characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive, movements, postures, or both." Via the application of whole-exome sequencing, the genetic landscape of dystonia and closely related movement disorders is becoming exposed. In particular, several "novel" genetic causes have been causally associated with dystonia or dystonia-related disorders over the past 2 years.

  • July
    8th

    Thalamocortical Connectivity Correlates with Phenotypic Variability in Dystonia.

    Vo A, Sako W, Niethammer M, Carbon M, Bressman SB, Uluğ AM, Eidelberg D. - July 8, 2014

    Dystonia is a brain disorder characterized by abnormal involuntary movements without defining neuropathological changes. The disease is often inherited as an autosomal-dominant trait with incomplete penetrance. Individuals with dystonia, whether inherited or sporadic, exhibit striking phenotypic variability, with marked differences in the somatic distribution and severity of clinical manifestations. In the current study, we used magnetic resonance diffusion tensor imaging to identify microstructural changes associated with specific limb manifestations.

  • July
    8th

    Clinical spectrum of dopa-responsive dystonia and related disorders.

    Lee WW, Jeon BS. - July 8, 2014

    Dopa-responsive dystonia (DRD) has a classic presentation of childhood or adolescent-onset dystonia, mild parkinsonism, marked diurnal fluctuations, improvement with sleep or rest, and a dramatic and sustained response to low doses of L-dopa without motor fluctuations or dyskinesias. However, there have been many papers on patients with a wide range of features, which report them as DRD mainly because they had dystonic syndromes with L-dopa responsiveness. Many mutations in the dopaminergic system have been found as molecular genetic defects.

  • July
    1st

    Facial dystonias and rosacea: is there an association?

    Khan TT, Donaldson J, Hesse RJ. - July 1, 2014

    Abstract Purpose: Benign essential blepharospasm (BEB) and hemifacial spasm (HFS) belong to a spectrum of focal movement disorders that cause involuntary, spasmodic contractions of the eyelid and facial muscles. In our clinical experience, we have observed an increased prevalence of rosacea in patients who present with BEB and HFS. We investigate our clinical findings with a review of disease pathophysiology and treatment. Methods: Retrospective study approved by the Ochsner Institutional Review Board and literature review.

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