2011
DOI: 10.1002/mds.23682
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THAP1 mutations are infrequent in spasmodic dysphonia

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Cited by 16 publications
(13 citation statements)
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“…In dystonia patients, the MAF (c.71+9C>A) was significantly higher than the controls of the 1000 Genomes project but not significantly higher than subjects in the EVS database. In other THAP1 screening series, this variant was reported in 3/455 subjects with primary dystonia and 1/185 controls (Groen et al 2010), 1/567 dystonia subjects and 1/365 controls (Lohmann et al 2012), 0/109 dystonia subjects and 1/185 controls (Groen et al 2011). In reports from other groups, it is not entirely clear if population controls had normal neurological examinations or a family history of any movement disorder including dystonia.…”
Section: Discussionmentioning
confidence: 96%
See 1 more Smart Citation
“…In dystonia patients, the MAF (c.71+9C>A) was significantly higher than the controls of the 1000 Genomes project but not significantly higher than subjects in the EVS database. In other THAP1 screening series, this variant was reported in 3/455 subjects with primary dystonia and 1/185 controls (Groen et al 2010), 1/567 dystonia subjects and 1/365 controls (Lohmann et al 2012), 0/109 dystonia subjects and 1/185 controls (Groen et al 2011). In reports from other groups, it is not entirely clear if population controls had normal neurological examinations or a family history of any movement disorder including dystonia.…”
Section: Discussionmentioning
confidence: 96%
“…), 0/109 dystonia subjects and 1/185 controls (Groen et al. ). In reports from other groups, it is not entirely clear if population controls had normal neurological examinations or a family history of any movement disorder including dystonia.…”
Section: Discussionmentioning
confidence: 99%
“…Interestingly, however, most studies demonstrate a higher (but not significantly higher) frequency of the variant in dystonia patients compared with controls. 9,10,23,24 The association may occur only in subtypes of dystonia. To date, the total number of carriers is too small to obtain significant differences for this rare variant.…”
Section: Discussionmentioning
confidence: 99%
“…All patients with segmental dystonia and those with an AaO before 26 years were tested for the GAG deletion in the TOR1A gene and were screened for the entire coding region of THAP1 10 15. Patients with jerky movements accompanying the dystonia were tested for mutations in the DYT11 ( SGCE ) gene 16.…”
Section: Methodsmentioning
confidence: 99%