Please use this identifier to cite or link to this item: https://biore.bio.bg.ac.rs/handle/123456789/1093
Title: Phenotype of non-c.907_909delGAG mutations in TOR1A: DYT1 dystonia revisited
Authors: Dobričić, Valerija
Kresojević, Nikola
Žarković, Milena
Tomić, Aleksandra
Marjanović, Ana
Westenberger, Ana
Cvetković, Dragana 
Svetel, Marina
Novaković, Ivana
Kostić, Vladimir
Keywords: Isolated dystonia;Mutation;TOR1A
Issue Date: 1-Oct-2015
Publisher: Elsevier Ltd
Journal: Parkinsonism and Related Disorders
Abstract: 
In addition to the most frequent TOR1A/DYT1 mutation (c.907_909delGAG), a growing number of TOR1A sequence variants are found in dystonia patients. For most, functional characterization has demonstrated pathogenicity at different levels, implying that TOR1A genetic testing should not be limited to screening for c.907_909delGAG. Methods: We tested 461 Serbian patients with isolated or combined dystonia for changes in the TOR1A gene and performed a systematic literature review of the clinical characteristics of patients carrying TOR1A mutations other than c.907_909delGAG. Results: One likely pathogenic TOR1A mutation (c.385G>A, p.Val129Ile) was detected in an adult-onset cervical dystonia patient. This change is in proximity to the previously reported p.Glu121Lys mutation and predicted to decrease the stability of TOR1A-encoded protein TorsinA. Conclusions: Our patient and three other reported carriers of non-c.907_909delGAG-mutations within the first three exons of TOR1A showed similar phenotypes of adult-onset focal or segmental cervical dystonia. This observation raises the possibility of genotype-phenotype correlations in DYT1 and indicates that the clinical spectrum of this type of dystonia might be broader then previous classic descriptions.
URI: https://biore.bio.bg.ac.rs/handle/123456789/1093
ISSN: 1353-8020
DOI: 10.1016/j.parkreldis.2015.08.001
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