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Familial late-onset focal dystonia in an African American family

Puschmann, Andreas J. LU ; LeDoux, Mark S.; Xiao, Jianfeng; Bastian, Robert W; Searcy, Jill A and Wszolek, Zbigniew K (2010) In Annals of Neurology 68(Suppl. S14). p.69-69
Abstract
Recent studies of THAP1 (DYT6) have pointed out that late-onset focal dystonia can have a genetic basis. Familial late-onset primary dystonia has not been described in African- Americans. Six members of an African American family were affected by focal or segmental dystonia with a mean age at onset of 47 years (range, 45-50). Two additional individuals with milder clinical signs were classified as probably affected. Clinical phenotypes included cervical, laryngeal and handforearm (writer's cramp) dystonia, following an autosomal dominant mode of inheritance. TOR1A (DYT1) and THAP1 (DYT6) were screened for sequence variants. There were no abnormalities in TOR1A. A novel THAP1 sequence variant (c.-237-3G>T) was found in both affected and... (More)
Recent studies of THAP1 (DYT6) have pointed out that late-onset focal dystonia can have a genetic basis. Familial late-onset primary dystonia has not been described in African- Americans. Six members of an African American family were affected by focal or segmental dystonia with a mean age at onset of 47 years (range, 45-50). Two additional individuals with milder clinical signs were classified as probably affected. Clinical phenotypes included cervical, laryngeal and handforearm (writer's cramp) dystonia, following an autosomal dominant mode of inheritance. TOR1A (DYT1) and THAP1 (DYT6) were screened for sequence variants. There were no abnormalities in TOR1A. A novel THAP1 sequence variant (c.-237-3G>T) was found in both affected and unaffected family members and did not co-segregate with dystonia. This variant was also found in 1/212 African American control alleles. Another variant at the same site (c.-237-3G>A) was found in 2/212 African American control alleles and one African American subject with laryngeal dystonia (1/84 alleles). Therefore, these variants are unlikely to be pathogenic. Familial late-onset primary dystonia does occur in non-Caucasian populations. Future studies of THAP1 and other dystonia genes must take genetic background into consideration. (Less)
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organization
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type
Contribution to journal
publication status
published
subject
keywords
alprazolam, African American, focal dystonia, dystonia, allele, segmental dystonia, onset age, Caucasian, writer's cramp, autosomal dominant inheritance, spasmodic dysphonia, inheritance, population, gene, phenotype
in
Annals of Neurology
volume
68
issue
Suppl. S14
pages
1 pages
publisher
John Wiley and Sons Inc.
ISSN
1531-8249
DOI
10.1002/ana.22176
language
English
LU publication?
yes
id
83454b2c-92e3-4137-95dd-c8a687fdd1d8
date added to LUP
2017-07-04 15:53:22
date last changed
2018-05-29 11:47:02
@misc{83454b2c-92e3-4137-95dd-c8a687fdd1d8,
  abstract     = {Recent studies of THAP1 (DYT6) have pointed out that late-onset focal dystonia can have a genetic basis. Familial late-onset primary dystonia has not been described in African- Americans. Six members of an African American family were affected by focal or segmental dystonia with a mean age at onset of 47 years (range, 45-50). Two additional individuals with milder clinical signs were classified as probably affected. Clinical phenotypes included cervical, laryngeal and handforearm (writer's cramp) dystonia, following an autosomal dominant mode of inheritance. TOR1A (DYT1) and THAP1 (DYT6) were screened for sequence variants. There were no abnormalities in TOR1A. A novel THAP1 sequence variant (c.-237-3G>T) was found in both affected and unaffected family members and did not co-segregate with dystonia. This variant was also found in 1/212 African American control alleles. Another variant at the same site (c.-237-3G>A) was found in 2/212 African American control alleles and one African American subject with laryngeal dystonia (1/84 alleles). Therefore, these variants are unlikely to be pathogenic. Familial late-onset primary dystonia does occur in non-Caucasian populations. Future studies of THAP1 and other dystonia genes must take genetic background into consideration.},
  author       = {Puschmann, Andreas J. and LeDoux, Mark S. and Xiao, Jianfeng and Bastian, Robert W and Searcy, Jill A and Wszolek, Zbigniew K},
  issn         = {1531-8249},
  keyword      = {alprazolam,African American,focal dystonia,dystonia,allele,segmental dystonia,onset age,Caucasian,writer's cramp,autosomal dominant inheritance,spasmodic dysphonia,inheritance,population,gene,phenotype},
  language     = {eng},
  month        = {01},
  note         = {Conference Abstract},
  number       = {Suppl. S14},
  pages        = {69--69},
  publisher    = {John Wiley and Sons Inc.},
  series       = {Annals of Neurology},
  title        = {Familial late-onset focal dystonia in an African American family},
  url          = {http://dx.doi.org/10.1002/ana.22176},
  volume       = {68},
  year         = {2010},
}