ArticleNeuro-degenerative diseases2016
DYT6 Dystonia: A Neuropathological Study.
Article in Neuro-degenerative diseases, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 18 citations in OpenAlex.
- Isolated dystonia: clinical and genetic updates.Journal of neural transmission (Vienna, Austria : 1996) · 2021Review
- Abnormal cerebellar function and tremor in a mouse model for non-manifesting partially penetrant dystonia type 6.The Journal of physiology · 2021Article
- Dystonia updates: definition, nomenclature, clinical classification, and etiology.Journal of neural transmission (Vienna, Austria : 1996) · 2021Review
- The Dystonia Coalition: A Multicenter Network for Clinical and Translational Studies.Frontiers in neurology · 2021Review
- Effects of High-Frequency Repetitive Transcranial Magnetic Stimulation on Upper Limb Dystonia in Patients With Wilson's Disease: A Randomized Controlled Trial.Frontiers in neurology · 2021Article
- A truncated PACT protein resulting from a frameshift mutation reported in movement disorder DYT16 triggers caspase activation and apoptosis.Journal of cellular biochemistry · 2019Article
- Neuropathology and pathogenesis of extrapyramidal movement disorders: a critical update. II. Hyperkinetic disorders.Journal of neural transmission (Vienna, Austria : 1996) · 2019Review
- Loss of the dystonia gene Thap1 leads to transcriptional deficits that converge on common pathogenic pathways in dystonic syndromes.Human molecular genetics · 2019Article
- Neuropathology of Dystonia.Tremor and other hyperkinetic movements (New York, N.Y.) · 2019Review
- Mutations in THAP1/DYT6 reveal that diverse dystonia genes disrupt similar neuronal pathways and functions.PLoS genetics · 2018Article
- Update on the Genetics of Dystonia.Current neurology and neuroscience reports · 2017Review
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
Abstract
backgroundMutations in the thanatos-associated protein domain containing apoptosis-associated protein 1 gene (THAP1) are responsible for adult-onset isolated dystonia (DYT6). However, no neuropathological studies of genetically proven DYT6 cases have been previously reported.
objectiveWe report the first detailed neuropathological investigation carried out on two DYT6 brains.
methodsGenetic screening for THAP1 gene mutations using standard Sanger polymerase chain reaction sequencing identified 2 cases, 1 with a known pathogenic mutation and the other with a novel mutation. A detailed neuropathological assessment of the cases was performed.
resultsBoth DYT6 cases showed no significant neurodegeneration and no specific disease-related pathology.
conclusionsNo neuropathological features that could be defined as hallmark features of DYT6 dystonia were identified. Our study supports the notion that in isolated dystonia, there is no significant neurodegeneration or morphological lesions that can be identified using routine methods.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.