News

  • February
    19th

    The syndrome of deafness-dystonia: Clinical and genetic heterogeneity.

    Kojovic M, Pareés I, Lampreia T, Pienczk-Reclawowicz K, Xiromerisiou G, Rubio-Agusti I, Kramberger M, Carecchio M, et al. - February 19, 2013

    The syndrome of deafness-dystonia is rare and refers to the association of hearing impairment and dystonia when these are dominant features of a disease. Known genetic causes include Mohr-Tranebjaerg syndrome, Woodhouse-Sakati syndrome, and mitochondrial disorders, but the cause frequently remains unidentified. The aim of the current study was to better characterize etiological and clinical aspects of deafness-dystonia syndrome. We evaluated 20 patients with deafness-dystonia syndrome who were seen during the period between 1994 and 2011.

  • February
    16th

    History, applications, and mechanisms of deep brain stimulation.

    Miocinovic S, Somayajula S, Chitnis S, Vitek JL. - February 16, 2013

    Deep brain stimulation (DBS) is an effective surgical treatment for medication-refractory hypokinetic and hyperkinetic movement disorders, and it is being explored for a variety of other neurological and psychiatric diseases. Deep brain stimulation has been Food and Drug Administration-approved for essential tremor and Parkinson disease and has a humanitarian device exemption for dystonia and obsessive-compulsive disorder. Neurostimulation is the fruit of decades of both technical and scientific advances in the field of basic neuroscience and functional neurosurgery.

  • February
    15th

    Surgical treatment of myoclonus dystonia syndrome.

    Rughani AI, Lozano AM. - February 15, 2013

    Myoclonus dystonia (M-D) syndrome is a heritable movement disorder characterized by myoclonic jerks and dystonia primarily of the upper extremities. M-D remains poorly responsive to pharmacological treatment. Emerging reports suggest good response to DBS of the internal globus pallidus (GPi) and ventral intermediate nucleus (VIM) of the thalamus. This study aimed to appraise the value of these two DBS targets by evaluating reports available in the literature. A systematic search of published case reports and case series was performed on Medline and Embase. Responses to DBS were evaluated.

  • February
    15th

    α3Na+/K+-ATPase deficiency causes brain ventricle dilation and abrupt embryonic motility in zebrafish.

    Doganli C, Beck HC, Ribera AB, Oxvig C, Lykke-Hartmann K. - February 15, 2013

    Na+/K+-ATPases are transmembrane ion pumps that maintain ion gradients across the basolateral plasma membrane in all animal cells to facilitate essential biological functions. Mutations in the Na+/K+-ATPase alpha3 subunit gene (ATP1A3) cause rapid-onset dystonia-parkinsonism (RDP), a rare movement disorder characterized by sudden onset of dystonic spasms and slow movements. In the brain, ATP1A3 is principally expressed in neurons. In zebrafish, the transcripts of the two ATP1A3 orthologs, Atp1a3a and Atp1a3b, show distinct expression in the brain.

  • February
    14th

    Kinematic analysis of grasping in focal dystonia of the face and neck.

    Nowak DA, Dafotakis M, Fink GR. - February 14, 2013

    The kinematics of hand transport and grasp formation when reaching for and grasping cubes of different sizes were investigated in subjects with blepharospasm, subjects with torticollis and healthy subjects. Patients scaled peak grasp aperture accurately to object size, reflecting accurate sensorimotor integration of the intrinsic object characteristics. Likewise, the timing of peak grasp aperture in relation to the time of hand transport did not differ between patients and controls.

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