The monogenic primary dystonias

U Müller - Brain, 2009 - academic.oup.com
… Suggestions for the diagnostic procedure in primary dystonias are given. Although much is
… of monogenic forms of primary dystonias has grown dramatically during the last two decades. …

Overview of primary monogenic dystonia

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 primary monogenic dystonia. …

The role of genes in causing dystonia

A Schmidt, C Klein - European Journal of Neurology, 2010 - Wiley Online Library
… This review focuses on the eight monogenic primary dystonias, six of which are
associated with an early-onset generalized phenotype (DYT1, 2, 4, 6, 16 and 17), while …

Primary dystonia and dystonia-plus syndromes: clinical characteristics, diagnosis, and pathogenesis

J Phukan, A Albanese, T Gasser, T Warner - The Lancet Neurology, 2011 - thelancet.com
the primary 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 …

Primary dystonias and genetic disorders with dystonia as clinical feature of the disease

N Moghimi, B Jabbari, AM Szekely - European Journal of Paediatric …, 2014 - Elsevier
… four categories within primary monogenic dystonias; primary torsion dystonias (PTDs), “…
dystonia is one of the several clinical features of the disease. This review intends to provide the

Tremor in primary monogenic dystonia

S Pandey, S Bhattad, S Dinesh - Current Neurology and Neuroscience …, 2021 - Springer
the MDS gene data and selected all research articles reporting tremor in primary monogenic
dystonia… It causes primary torsion dystonia with onset in the region of the neck and cervical …

Understanding psychiatric disorders in idiopathic and inherited (monogenic) forms of isolated and combined dystonia: a systematic review

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 primary dystonia in the same patient cohort. This has limited …

Monogenic variants in dystonia: an exome-wide sequencing study

M Zech, R Jech, S Boesch, M Škorvánek… - The Lancet …, 2020 - thelancet.com
… We aimed to elucidate the monogenic causes for the major clinical categories of dystonia. …
In this study, we have determined the role of monogenic variants across the range of dystonic

Genetics of primary torsion dystonia

N Brüggemann, C Klein - Current neurology and neuroscience reports, 2010 - Springer
… , including the 1) detection of two primary dystonia genes (DYT6, DYT16), 2) identification
of … genes will improve our understanding of the rare monogenic forms and of dystonia in …

How psychogenic is dystonia? Views from past to present

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 monogenic dystonia