This is a competing continuation to further localize and identify a gene for early onset primary torsion dystonia (PTD). The gene under study is DYT6, one of several genes that can cause this disease. 1)They plan to examine 30 families in which 3 or more members are affected with PTD. They will also examine 50 simplex or multiplex Mennonite PTD families. 2) They will carry out a series of genetic tests to further elucidate the genetic defect in these families. 3) Families displaying linkage or linkage disequilibrium will be used to further localize and characterize these genes by positional cloning. Families excluded from linkage with identified PTD loci will be analyzed by linkage analysis in a genome search. Once other PTD loci are identified, further localization by fine scale mapping will be performed and linkage disequilibrium will be sought. Clinical features due to different PTD loci will be determined and explanations for the variable expression and reduced penetrance of PTD genes will be investigated.
| Mirelman, Anat; Alcalay, Roy N; Saunders-Pullman, Rachel et al. (2015) Nonmotor symptoms in healthy Ashkenazi Jewish carriers of the G2019S mutation in the LRRK2 gene. Mov Disord 30:981-6 |
| Saunders-Pullman, Rachel; Fuchs, Tania; San Luciano, Marta et al. (2014) Heterogeneity in primary dystonia: lessons from THAP1, GNAL, and TOR1A in Amish-Mennonites. Mov Disord 29:812-8 |
| Fuchs, Tania; Saunders-Pullman, Rachel; Masuho, Ikuo et al. (2013) Mutations in GNAL cause primary torsion dystonia. Nat Genet 45:88-92 |
| Bressman, Susan B; Raymond, Deborah; Fuchs, Tania et al. (2009) Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study. Lancet Neurol 8:441-6 |
| Raymond, Deborah; Saunders-Pullman, Rachel; de Carvalho Aguiar, Patricia et al. (2008) Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with epsilon-sarcoglycan mutations. Mov Disord 23:588-92 |
| Bressman, Susan B (2007) Genetics of dystonia: an overview. Parkinsonism Relat Disord 13 Suppl 3:S347-55 |
| Saunders-Pullman, Rachel; Raymond, Deborah; Senthil, Geetha et al. (2007) Narrowing the DYT6 dystonia region and evidence for locus heterogeneity in the Amish-Mennonites. Am J Med Genet A 143A:2098-105 |
| Heiman, Gary A; Ottman, Ruth; Saunders-Pullman, Rachel J et al. (2007) Obsessive-compulsive disorder is not a clinical manifestation of the DYT1 dystonia gene. Am J Med Genet B Neuropsychiatr Genet 144B:361-4 |
| Hess, C W; Raymond, D; Aguiar, P de Carvalho et al. (2007) Myoclonus-dystonia, obsessive-compulsive disorder, and alcohol dependence in SGCE mutation carriers. Neurology 68:522-4 |
| Risch, Neil J; Bressman, Susan B; Senthil, Geetha et al. (2007) Intragenic Cis and Trans modification of genetic susceptibility in DYT1 torsion dystonia. Am J Hum Genet 80:1188-93 |
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