News

May
27th
A Novel OPA3 Mutation Revealed by Exome Sequencing: An Example of Reverse Phenotyping.
Arif B, Kumar KR, Seibler P, Vulinovic F, Fatima A, Winkler S, Nürnberg G, Thiele H, Nürnberg P, Jamil AZ, Brüggemann A, Abbas G - May 27, 2013

IMPORTANCE We sought to unravel the genetic cause in a consanguineous Pakistani family with a complex neurological phenotype. OBSERVATIONS Neurological and ophthalmological examination, including videotaping and fundoscopy, and genetic investigations, including homozygosity mapping and exome sequencing, were performed at the University of the Punjab and the University of Lübeck. Participants included 2 severely affected cousins from consanguineous parents, 10 of their reportedly unaffected relatives, and 342 Pakistani controls.
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May
25th
Long-term efficacy and safety of incobotulinumtoxinA injections in patients with cervical dystonia.
Dressler D, Paus S, Seitzinger A, Gebhardt B, Kupsch A. - May 25, 2013

INTRODUCTION:Previously, controlled trials have demonstrated the efficacy and tolerability of fixed doses of incobotulinumtoxinA (Xeomin, NT 201, botulinum toxin type A free from complexing proteins) to treat cervical dystonia (CD). To explore the clinical relevance of these findings, this study evaluated long-term use of flexible dosing regimens of incobotulinumtoxinA in a setting close to real-life clinical practice.
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May
24th
Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation.
Hayflick SJ, Kruer MC, Gregory A, Haack TB, Kurian MA, Houlden HH, Anderson J, Boddaert N, Sanford L, Harik SI, Dandu VH, Nardoc - May 24, 2013

Neurodegenerative disorders with high iron in the basal ganglia encompass an expanding collection of single gene disorders collectively known as neurodegeneration with brain iron accumulation. These disorders can largely be distinguished from one another by their associated clinical and neuroimaging features. The aim of this study was to define the phenotype that is associated with mutations in WDR45, a new causative gene for neurodegeneration with brain iron accumulation located on the X chromosome.
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May
22nd
Bilateral Pallidal Stimulation for "Sticking-Out Tongue" Feature in Patients With Primary Focal Tongue Protrusion Dystonia.
Chung JC, Kim JP, Chang WS, Kim HY, Chang JW. - May 22, 2013

INTRODUCTION: Tongue protrusion dystonia can cause difficulty with speech, mastication, breathing, and swallowing. Deep brain stimulation (DBS) of the globus pallidus internus (GPi) is a widespread therapeutic alternative for treating medically refractory dystonia. To our knowledge, detailed reports regarding DBS for tongue protrusion dystonia are rare. In this report, we describe two patients with "sticking out" tongue protrusion who had undergone bilateral GPi DBS.
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May
20th
Defining the epsilon-sarcoglycan (SGCE) gene phenotypic signature in myoclonus-dystonia: A reappraisal of genetic testing criteria.
Carecchio M, Magliozzi M, Copetti M, Ferraris A, Bernardini L, Bonetti M, Defazio G, Edwards MJ, Torrente I, Pellegrini F, Comi - May 20, 2013

Mutations or exon deletions of the epsilon-sarcoglycan (SGCE) gene cause myoclonus-dystonia (M-D), but a subset of M-D patients are mutation-negative and the sensitivity and specificity of current genetic testing criteria are unknown. We screened 46 newly enrolled M-D patients for SGCE mutations and deletions; moreover, 24 subjects previously testing negative for SGCE mutations underwent gene dosage analysis. In our combined cohorts, we calculated sensitivity, specificity, positive and negative predictive values, and area under the curve of 2 published sets of M-D diagnostic criteria.
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News

A Novel OPA3 Mutation Revealed by Exome Sequencing: An Example of Reverse Phenotyping.

Long-term efficacy and safety of incobotulinumtoxinA injections in patients with cervical dystonia.

Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation.

Bilateral Pallidal Stimulation for "Sticking-Out Tongue" Feature in Patients With Primary Focal Tongue Protrusion Dystonia.

Defining the epsilon-sarcoglycan (SGCE) gene phenotypic signature in myoclonus-dystonia: A reappraisal of genetic testing criteria.

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