The purpose of this renewal application is to map the gene for non-DYTI idiopathic torsion dystonia (ITD), non-chromosome 9-linked torsion dystonia. Families will be ascertained and sampled and screened for linkage with markers in the 9q region. 9q linked families will be shared with Xandra Breakefield, who has separate funding to clone the 9q gene. Clinical and ancestral information will be also assessed on all participating families for clinical comparisons and phenotype/genotype correlations. Non DYT1 families will then be subjected to a genomic screen. Ascertainment will concentrate on late onset families. Families will be stratified by clinical subtypes in order to define homogenous linkage screening categories and heterogeneity will be assessed. Once linkage is established, they will fine map the disease locus, perform linkage disequilibrium studies in an attempt to positionally clone the linked locus as well as undertake phenotype genotype correlations both DYT1 and non-DYT1 loci. All the studies proposed will be carried out by the same members of the highly productive long standing collaborative group.
| 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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