News

April
14th
The role of mutations in COL6A3 in isolated dystonia.
Lohmann K, Schlicht F, Svetel M, Hinrichs F, Zittel S, Graf J, Lohnau T, Schmidt A, Mir P, Krause P, Lang AE et al. - April 14, 2016

Specific mutations in COL6A3 have recently been reported as the cause of isolated recessive dystonia, which is a rare movement disorder. In all patients, at least one mutation was located in Exons 41 and 42. In an attempt to replicate these findings, we assessed by direct sequencing the frequency of rare variants in Exons 41 and 42 of COL6A3 in 955 patients with isolated or combined dystonia or with another movement disorder with dystonic features. We identified nine heterozygous carriers of rare variants including five different missense mutations and an extremely rare synonymous variant.
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April
14th
Subthalamic local field potentials in Parkinson's disease and isolated dystonia: An evaluation of potential biomarkers.
Wang DD, de Hemptinne C, Miocinovic S, Qasim SE, Miller AM, Ostrem JL, Galifianakis NB, San Luciano M, Starr PA - April 14, 2016

Local field potentials (LFP) recorded from the subthalamic nucleus in patients with Parkinson's disease (PD) demonstrate prominent oscillations in the beta (13-30Hz) frequency range, and reduction of beta band spectral power by levodopa and deep brain stimulation (DBS) is correlated with motor symptom improvement. Several features of beta activity have been theorized to be specific biomarkers of the parkinsonian state, though these have rarely been studied in non-parkinsonian conditions.
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April
14th
Genetics of movement disorders in the next-generation sequencing era.
Olgiati S, Quadri M, Bonifati V. - April 14, 2016

Several innovative and extremely powerful methods for sequencing nucleic acids (DNA and RNA), collectively known as next-generation sequencing technologies, have become available in the past few years.
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April
14th
Considerations on patient-related outcomes with the use of botulinum toxins: is switching products safe?
Fraint A, Vittal P, Comella C. - April 14, 2016

INTRODUCTION: Botulinum toxin (BoNT) is the treatment of choice for many neurologic movement disorders, including blepharospasm, hemifacial spasm, and cervical dystonia. There are two serotypes approved for use by the US Food and Drug Administration: three brands of serotype A and one of serotype B. Many attempts have been made at establishing dose conversion ratios between brands and serotypes. This review focuses on the existing data comparing different formulations of the same BoNT serotypes as well as that comparing different serotypes with one another.
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April
14th
Pregnancy in a Series of Dystonia Patients Treated with Deep Brain Stimulation: Outcomes and Management Recommendations.
Ziman N, Coleman RR, Starr PA, Volz M, Marks WJ Jr, Walker HC, Guthrie SL, Ostrem JL. - April 14, 2016

BACKGROUND: Medically refractory dystonia affects children and young adults, and deep brain stimulation (DBS) can allow some patients to regain functional independence. Women with dystonia treated with DBS may wish to conceive a child, but there is limited published information on pregnancy and DBS. OBJECTIVE: To describe a series of dystonia patients treated with DBS who later became pregnant and provide guidelines for women treated with DBS considering conception.
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News

The role of mutations in COL6A3 in isolated dystonia.

Subthalamic local field potentials in Parkinson's disease and isolated dystonia: An evaluation of potential biomarkers.

Genetics of movement disorders in the next-generation sequencing era.

Considerations on patient-related outcomes with the use of botulinum toxins: is switching products safe?

Pregnancy in a Series of Dystonia Patients Treated with Deep Brain Stimulation: Outcomes and Management Recommendations.

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