ReviewCurrent neurology and neuroscience reports2010
Genetics of primary torsion dystonia.
Review in Current neurology and neuroscience reports, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
12 citing papers in PubMed, 32 citations in OpenAlex.
- Early-onset torsion dystonia: a novel high-throughput yeast genetic screen for factors modifying protein levels of torsinAΔE.Disease models & mechanisms · 2017Article
- Mutant human torsinA, responsible for early-onset dystonia, dominantly suppresses GTPCH expression, dopamine levels and locomotion in Drosophila melanogaster.Biology open · 2015Article
- The BiP molecular chaperone plays multiple roles during the biogenesis of torsinA, an AAA+ ATPase associated with the neurological disease early-onset torsion dystonia.The Journal of biological chemistry · 2014Article
- Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene.Annals of neurology · 2013Article
- Invertebrate models of dystonia.Current neuropharmacology · 2013Article
- Dopa-responsive dystonia: functional analysis of single nucleotide substitutions within the 5' untranslated GCH1 region.PloS one · 2013Article
- Alternative approaches to modeling hereditary dystonias.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2012Review
- Fixing the broken system of genetic locus symbols: Parkinson disease and dystonia as examples.Neurology · 2012Review
- Untethering the nuclear envelope and cytoskeleton: biologically distinct dystonias arising from a common cellular dysfunction.International journal of cell biology · 2012Article
- Molecular pathways in dystonia.Neurobiology of disease · 2011Review
- Dtorsin, the Drosophila ortholog of the early-onset dystonia TOR1A (DYT1), plays a novel role in dopamine metabolism.PloS one · 2011Article
- Pre- and post- GPi DBS neuropsychological profiles in a case of X-linked dystonia-Parkinsonism.The Clinical neuropsychologist · 2011Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Advances in the genetics of dystonia have further elucidated the pathophysiology of this clinically and etiologically heterogeneous group of movement disorders. Currently, 20 monogenic forms of dystonia, designated by the acronym DYT, are grouped as 1) pure dystonias, 2) dystonia-plus syndromes, and 3) paroxysmal dystonias/dyskinesias. We summarize recently discovered genes and loci, including the 1) detection of two primary dystonia genes (DYT6, DYT16), 2) identification of the DYT17 locus, 3) association of a dystonia/dyskinesia phenotype with a gene previously linked to GLUT1 (glucose transporter of the blood-brain barrier) deficiency syndrome (DYT18), 4) designation of paroxysmal kinesigenic and nonkinesigenic dyskinesia as DYT19 and DYT20, and 5) redefinition of DYT14 as DYT5. Further, we review current knowledge regarding genetic modifiers and susceptibility factors. Because recognizing and diagnosing monogenic dystonias have important implications for patients and their families with regard to counseling, prognosis, and treatment, we highlight clinical "red flags" of individual subtypes and review guidelines for genetic testing.
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