M Spatola, C Wider - Parkinsonism & related disorders, 2012 - Elsevier
… – Mixed type primary torsion dystonia Although the exact prevalence remains to be assessed, DYT6 probably represents one of the most prevalent forms of primarymonogenicdystonia. …
A Schmidt, C Klein - European Journal of Neurology, 2010 - Wiley Online Library
… This review focuses on the eight monogenicprimarydystonias, six of which are associated with an early-onset generalized phenotype (DYT1, 2, 4, 6, 16 and 17), while …
… theprimary forms of dystonia (which are the most common forms) and the more complex forms (dystonia-… have an underlying genetic basis, with clear monogenic inheritance in more …
N Moghimi, B Jabbari, AM Szekely - European Journal of Paediatric …, 2014 - Elsevier
… four categories within primarymonogenicdystonias; primary torsion dystonias (PTDs), “… dystonia is one of the several clinical features of the disease. This review intends to provide the …
S Pandey, S Bhattad, S Dinesh - Current Neurology and Neuroscience …, 2021 - Springer
… the MDS gene data and selected all research articles reporting tremor in primarymonogenic dystonia… It causes primary torsion dystonia with onset in the region of the neck and cervical …
V Lane, M Lane, A Sturrock… - The Journal of …, 2021 - Am Neuropsych Assoc
… studies not only reported on small numbers of sequentially sampled cases but also analyzed multiple types of primarydystonia in the same patient cohort. This has limited …
… We aimed to elucidate themonogenic causes for the major clinical categories of dystonia. … In this study, we have determined the role of monogenic variants across the range of dystonic …
N Brüggemann, C Klein - Current neurology and neuroscience reports, 2010 - Springer
… , including the 1) detection of two primarydystonia genes (DYT6, DYT16), 2) identification of … genes will improve our understanding of the rare monogenic forms and of dystonia in …
AG Munts, PJ Koehler - Brain, 2010 - academic.oup.com
… As many 19th and early 20th century primary textbooks refer to the work of Duchenne and … Today it is recognized that >14 genes are implicated in different monogenicdystonia …