D
Deborah de Leon
Researcher at Columbia University
Publications - 35
Citations - 4113
Deborah de Leon is an academic researcher from Columbia University. The author has contributed to research in topics: Dystonia & Idiopathic Torsion Dystonia. The author has an hindex of 27, co-authored 35 publications receiving 4002 citations. Previous affiliations of Deborah de Leon include NewYork–Presbyterian Hospital & Yeshiva University.
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Journal ArticleDOI
The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein
Laurie J. Ozelius,Jeffrey W. Hewett,Curtis E. Page,Susan B. Bressman,Patricia L. Kramer,Christo Shalish,Deborah de Leon,Mitchell F. Brin,Deborah Raymond,David P. Corey,Stanley Fahn,Neil Risch,Alan Buckler,James F. Gusella,Xandra O. Breakefield +14 more
TL;DR: The DYT1 gene on human chromosome 9q34 is identified as being responsible for early-onset torsion dystonia, a movement disorder, characterized by twisting muscle contractures, that begins in childhood.
Journal ArticleDOI
Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population.
Neil Risch,Neil Risch,Deborah de Leon,Laurie J. Ozelius,Patricia L. Kramer,Laura Almasy,Burton H. Singer,Stanley Fahn,Xandra O. Breakefield,Susan B. Bressman +9 more
TL;DR: The recent origin of this dominant mutation and its current high frequency suggest that the Ashkenazi population descends from a limited group of founders, and emphasize the importance of genetic drift in determining disease allele frequencies in this population.
Journal ArticleDOI
The DYT1 phenotype and guidelines for diagnostic testing
Susan B. Bressman,Chiara Sabatti,Deborah Raymond,Deborah de Leon,Christine Klein,Patricia L. Kramer,Mitchell F. Brin,Stanley Fahn,Xandra O. Breakefield,Laurie J. Ozelius,Neil Risch +10 more
TL;DR: Diagnostic DYT1 testing in conjunction with genetic counseling is recommended for patients with PTD with onset before age 26 years, as this single criterion detected 100% of clinically ascertained carriers, with specificities of 43% to 63%.
Journal ArticleDOI
Human gene for torsion dystonia located on chromosome 9q32-q34.
Laurie J. Ozelius,Patricia L. Kramer,Carol Moskowitz,David J. Kwiatkowski,Mitchell F. Brin,Susan B. Bressman,Deborah E. Schuback,Catherine T. Falk,Neil Risch,Deborah de Leon,Robert E. Burke,Jonathan L. Haines,James F. Gusella,Stanley Fahn,Xandra O. Breakefield +14 more
TL;DR: This dystonia gene (ITD1) shows tight linkage with the gene encoding gelsolin, an actin binding protein, and appears by multipoint linkage analysis to lie in the q32-q34 region of chromosome 9 between ABO and D9S26, a region that also contains the locus for dopamine-beta-hydroxylase.
Journal ArticleDOI
Idiopathic dystonia among ashkenazi jews: Evidence for autosomal dominant inheritance
Susan B. Bressman,Deborah de Leon,Mitchell F. Brin,Neil Risch,Robert E. Burke,Paul Greene,Heidi Shale,Stanley Fahn +7 more
TL;DR: The mode of inheritance of idiopathic torsion dystonia among the Ashkenazim is clarified and rates to illness for first‐and second‐degree relatives are determined and age‐adjusted lifetime risks are calculated.