News

  • December
    12th

    The genetics of dystonias.

    LeDoux MS. - December 12, 2012

    Dystonia has been defined as a syndrome of involuntary, sustained muscle contractions affecting one or more sites of the body, frequently causing twisting and repetitive movements or abnormal postures. Dystonia is also a clinical sign that can be the presenting or prominent manifestation of many neurodegenerative and neurometabolic disorders. Etiological categories include primary dystonia, secondary dystonia, heredodegenerative diseases with dystonia, and dystonia plus.

  • December
    10th

    Mutations in GNAL cause primary torsion dystonia.

    Fuchs T, Saunders-Pullman R, Masuho I, Luciano MS, Raymond D, Factor S, Lang AE, Liang TW, Trosch RM, White S, Ainehsazan E, Her - December 10, 2012

    Dystonia is a movement disorder characterized by repetitive twisting muscle contractions and postures. Its molecular pathophysiology is poorly understood, in part owing to limited knowledge of the genetic basis of the disorder. Only three genes for primary torsion dystonia (PTD), TOR1A (DYT1), THAP1 (DYT6) and CIZ1 (ref. 5), have been identified. Using exome sequencing in two families with PTD, we identified a new causative gene, GNAL, with a nonsense mutation encoding p.Ser293* resulting in a premature stop codon in one family and a missense mutation encoding p.Val137Met in the other.

  • December
    5th

    Mutations in Ano3 Cause Dominant Craniocervical Dystonia: Ion Channel Implicated in Pathogenesis.

    Charlesworth G, Plagnol V, Holmström KM, Bras J, Sheerin UM, Preza E, Rubio-Agusti I, Ryten M, Schneider SA, Stamelou M, Trabzun - December 5, 2012

    In this study, we combined linkage analysis with whole-exome sequencing of two individuals to identify candidate causal variants in a moderately-sized UK kindred exhibiting autosomal-dominant inheritance of craniocervical dystonia. Subsequent screening of these candidate causal variants in a large number of familial and sporadic cases of cervical dystonia led to the identification of a total of six putatively pathogenic mutations in ANO3, a gene encoding a predicted Ca(2+)-gated chloride channel that we show to be highly expressed in the striatum.

  • December
    5th

    DBS and Electrical Neuro-Network Modulation to Treat Neurological Disorders.

    Thompson A, Morishita T, Okun MS - December 5, 2012

    The use of neuromodulatory techniques in the treatment of neurological disorders is expanding and now includes devices targeting the motor cortex, basal ganglia, spinal cord, peripheral nervous system, and autonomic nervous system. In this chapter, we review and discuss the current and past literature as well as review indications for each of these devices in the ongoing management of many common neurological diseases including chronic pain, Parkinson's disease, tremor, dystonia, and epilepsy.

  • December
    5th

    Reduced Paired Pulse Depression in the Basal Ganglia of Dystonia Patients.

    Prescott IA, Dostrovsky JO, Moro E, Hodaie M, Lozano AM, Hutchison WD. - December 5, 2012

    Decreased inhibition and aberrant plasticity are key features in the pathophysiology of dystonia. Impaired short interval cortical inhibition and resultant increased excitability has been described for various forms of dystonia using paired pulse methods with transcranial magnetic stimulation of motor cortex. It is hypothesized that, in addition to cortical abnormalities, impairments in basal ganglia function may lead to dystonia but a deficit of inhibition within the basal ganglia has not been demonstrated to date.

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