News

February
9th
RELN rare variants in myoclonus-dystonia.
Groen JL1, Ritz K, Jalalzadeh H, van der Salm SM, Jongejan A, Mook OR, Haagmans MA, Zwinderman AH, Motazacker MM, et al. - February 9, 2015

BACKGROUND: Myoclonus-dystonia (M-D) is a hyperkinetic movement disorder with predominant myoclonic symptoms combined with dystonia of the upper part of the body. A proportion of M-D cases are caused by mutations in the epsilon-sarcoglycan gene. In remaining M-D patients, no genetic factor has been established, indicating genetic heterogeneity.
- Read more about RELN rare variants in myoclonus-dystonia.
February
9th
Isolated and combined dystonia syndromes - an update on new genes and their phenotypes.
Balint B1, Bhatia KP. - February 9, 2015

Recent consensus on the definition, phenomenology and classification of dystonia centres around phenomenology and guides our diagnostic approach for the heterogeneous group of dystonias. Current terminology classifies conditions where dystonia is the sole motor feature (apart from tremor) as 'isolated dystonia', while 'combined dystonia' refers to dystonias with other accompanying movement disorders. This review highlights recent advances in the genetics of some isolated and combined dystonic syndromes.
- Read more about Isolated and combined dystonia syndromes - an update on new genes and their phenotypes.
February
6th
Short- and long-term outcome of chronic pallidal neurostimulation in monogenic isolated dystonia.
Brüggemann N, Kühn A, Schneider SA, Kamm C, Wolters A, Krause P, Moro E, Steigerwald F, Wittstock M, Tronnier V et al. - February 6, 2015

OBJECTIVES:Deep brain stimulation of the internal pallidum (GPi-DBS) is an established therapeutic option in treatment-refractory dystonia, and the identification of factors predicting surgical outcome is needed to optimize patient selection. METHODS:In this retrospective multicenter study, GPi-DBS outcome of 8 patients with DYT6, 9 with DYT1, and 38 with isolated dystonia without known monogenic cause (non-DYT) was assessed at early (1-16 months) and late (22-92 months) follow-up using Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) scores.
- Read more about Short- and long-term outcome of chronic pallidal neurostimulation in monogenic isolated dystonia.
January
31st
An international survey of patients with cervical dystonia.
Comella C, Bhatia K. - January 31, 2015

This was an international survey undertaken to assess cervical dystonia (CD) patients own perceptions of their illness and its management. A total of 1,071 self-identified respondents with CD in 38 countries completed the online survey between March and December 2012. The mean time since diagnosis was 9.6 years and over half (54 %) of patients surveyed were not diagnosed in the first year.
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January
31st
Movement disorders in 2014: Genetic advances spark a revolution in dystonia phenotyping.
de Koning TJ, Tijssen MA - January 31, 2015

Genetic revelations in 2014 are testing traditional classification systems for movement disorders, and our approach to clinical diagnostics. Mutations in dystonia-associated genes lead to a spectrum of disorders with different phenotypes, underscoring the need for stringent clinical phenotyping of patients with movement disorders, as well as next-generation sequencing approaches.
- Read more about Movement disorders in 2014: Genetic advances spark a revolution in dystonia phenotyping.

News

RELN rare variants in myoclonus-dystonia.

Isolated and combined dystonia syndromes - an update on new genes and their phenotypes.

Short- and long-term outcome of chronic pallidal neurostimulation in monogenic isolated dystonia.

An international survey of patients with cervical dystonia.

Movement disorders in 2014: Genetic advances spark a revolution in dystonia phenotyping.

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