Susan B Bressman

Summary

Affiliation: Beth Israel Medical Center
Country: USA

Publications

  1. pmc Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study
    Susan B Bressman
    Department of Neurology, Beth Israel Medical Center, New York, NY 10003, USA
    Lancet Neurol 8:441-6. 2009
  2. ncbi request reprint Pallidal deep brain stimulation for DYT6 dystonia
    Fedor Panov
    Department of Neurosurgery, Mount Sinai School of Medicine, New York, New York, USA
    J Neurol Neurosurg Psychiatry 83:182-7. 2012
  3. ncbi request reprint Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia
    Tania Fuchs
    Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, New York 10029, USA
    Nat Genet 41:286-8. 2009
  4. pmc Genetic evidence for an association of the TOR1A locus with segmental/focal dystonia
    Nutan Sharma
    Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA
    Mov Disord 25:2183-7. 2010
  5. pmc Cognitive and motor function in long-duration PARKIN-associated Parkinson disease
    Roy N Alcalay
    Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York2Taub Institute for Research on Alzheimer s Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University, New York, New York
    JAMA Neurol 71:62-7. 2014
  6. pmc LRRK2 G2019S mutations are associated with an increased cancer risk in Parkinson disease
    Rachel Saunders-Pullman
    Department of Neurology, Beth Israel Medical Center, New York, New York, USA
    Mov Disord 25:2536-41. 2010
  7. ncbi request reprint Genetics and treatment of dystonia
    Cordelia S Schwarz
    Department of Neurology, Beth Israel Medical Center, Phillips Ambulatory Care Center, New York, NY 10003, USA
    Neurol Clin 27:697-718, vi. 2009
  8. pmc Frequency of known mutations in early-onset Parkinson disease: implication for genetic counseling: the consortium on risk for early onset Parkinson disease study
    Roy N Alcalay
    Department of Neurology, Columbia University, New York, NY 10032, USA
    Arch Neurol 67:1116-22. 2010
  9. pmc Mutations in GNAL cause primary torsion dystonia
    Tania Fuchs
    Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, New York, USA
    Nat Genet 45:88-92. 2013
  10. ncbi request reprint Increased cerebellar activation during sequence learning in DYT1 carriers: an equiperformance study
    Maren Carbon
    Center for Neurosciences, The Feinstein Institute for Medical Research, North Shore Long Island Jewish Health System, New York, New York 11030, USA
    Brain 131:146-54. 2008

Detail Information

Publications27

  1. pmc Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study
    Susan B Bressman
    Department of Neurology, Beth Israel Medical Center, New York, NY 10003, USA
    Lancet Neurol 8:441-6. 2009
    ..To assess more broadly the role of this gene, we screened for mutations in families that included one family member who had early-onset, non-focal primary dystonia...
  2. ncbi request reprint Pallidal deep brain stimulation for DYT6 dystonia
    Fedor Panov
    Department of Neurosurgery, Mount Sinai School of Medicine, New York, New York, USA
    J Neurol Neurosurg Psychiatry 83:182-7. 2012
    ..Mutations of the THAP1 gene were recently shown to underlie DYT6 torsion dystonia. Little is known about the response of this dystonia subtype to deep brain stimulation (DBS) at the internal globus pallidus (GPi)...
  3. ncbi request reprint Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia
    Tania Fuchs
    Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, New York 10029, USA
    Nat Genet 41:286-8. 2009
    ..We demonstrate that the missense mutation impairs DNA binding, suggesting that transcriptional dysregulation may contribute to the phenotype of DYT6 dystonia...
  4. pmc Genetic evidence for an association of the TOR1A locus with segmental/focal dystonia
    Nutan Sharma
    Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA
    Mov Disord 25:2183-7. 2010
    ..In contrast, we did not find an association of either allele at the D216H SNP (rs1801968) with focal or segmental dystonia in the same cohort...
  5. pmc Cognitive and motor function in long-duration PARKIN-associated Parkinson disease
    Roy N Alcalay
    Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York2Taub Institute for Research on Alzheimer s Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University, New York, New York
    JAMA Neurol 71:62-7. 2014
    ..Data on the long-term cognitive outcomes of patients with PARKIN-associated Parkinson disease (PD) are unknown but may be useful when counseling these patients...
  6. pmc LRRK2 G2019S mutations are associated with an increased cancer risk in Parkinson disease
    Rachel Saunders-Pullman
    Department of Neurology, Beth Israel Medical Center, New York, New York, USA
    Mov Disord 25:2536-41. 2010
    ..While further evaluation is warranted, our findings indicate an increased risk of nonskin cancers in LRRK2 G2019S mutation carriers, which may be related to toxic gain of function of mutated LRRK2...
  7. ncbi request reprint Genetics and treatment of dystonia
    Cordelia S Schwarz
    Department of Neurology, Beth Israel Medical Center, Phillips Ambulatory Care Center, New York, NY 10003, USA
    Neurol Clin 27:697-718, vi. 2009
    ..They also address pharmacologic and surgical treatment options for various forms of dystonia...
  8. pmc Frequency of known mutations in early-onset Parkinson disease: implication for genetic counseling: the consortium on risk for early onset Parkinson disease study
    Roy N Alcalay
    Department of Neurology, Columbia University, New York, NY 10032, USA
    Arch Neurol 67:1116-22. 2010
    ..To assess the frequency and clinical characteristics of carriers of previously identified mutations in 6 genes associated with early-onset Parkinson disease (PD) and provide empirical data that can be used to inform genetic counseling...
  9. pmc Mutations in GNAL cause primary torsion dystonia
    Tania Fuchs
    Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, New York, USA
    Nat Genet 45:88-92. 2013
    ..Val137Met in the other. Screening of GNAL in 39 families with PTD identified 6 additional new mutations in this gene. Impaired function of several of the mutants was shown by bioluminescence resonance energy transfer (BRET) assays...
  10. ncbi request reprint Increased cerebellar activation during sequence learning in DYT1 carriers: an equiperformance study
    Maren Carbon
    Center for Neurosciences, The Feinstein Institute for Medical Research, North Shore Long Island Jewish Health System, New York, New York 11030, USA
    Brain 131:146-54. 2008
    ..The inability to recruit the appropriate set of neocortical areas because of altered fronto-striatal connectivity may have led to the shift to cerebellar processing...
  11. pmc Obsessive-compulsive disorder is not a clinical manifestation of the DYT1 dystonia gene
    Gary A Heiman
    Department of Epidemiology of Joseph L Mailman School of Public Health, Columbia University, New York, New York 10032, USA
    Am J Med Genet B Neuropsychiatr Genet 144:361-4. 2007
    ..We found that OCD/OCS are not increased in DYT1 mutation carriers compared with NC, nor is OCD associated with manifesting DYT1 dystonia...
  12. ncbi request reprint What's new in dystonia?
    Vicki Shanker
    Beth Israel Medical Center, Albert Einstein College of Medicine, New York, NY 10003, USA
    Curr Neurol Neurosci Rep 9:278-84. 2009
    ..The success of deep brain stimulation in many cases of generalized dystonia has led to trials in other forms of dystonia, such as medically refractive cervical dystonia. This article reviews relevant recent findings in dystonia...
  13. pmc Heterogeneity in primary dystonia: lessons from THAP1, GNAL, and TOR1A in Amish-Mennonites
    Rachel Saunders-Pullman
    Department of Neurology, Beth Israel Medical Center, New York, New York, USA Department of Neurology, Albert Einstein College of Medicine, Bronx, New York, USA
    Mov Disord 29:812-8. 2014
    ..Phenotype, particularly age at onset combined with final distribution, may be highly specific for the genetic etiology...
  14. ncbi request reprint The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene
    Allison Brashear
    Department of Neurology, Wake Forest University, Winston Salem, NC 27157, USA
    Brain 130:828-35. 2007
    ..A positive family history is not required. Genetic testing for the ATP1A3 gene is recommended when abrupt onset, rostrocaudal gradient and prominent bulbar findings are present...
  15. pmc Clinical expression of LRRK2 G2019S mutations in the elderly
    Marta San Luciano
    Department of Neurology, Beth Israel Medical Center, New York, New York, USA
    Mov Disord 25:2571-6. 2010
    ..However, most NMC have motor decline which is indistinguishable from their age mates, suggesting that the larger subset of elderly NMC is not on the motor trajectory to disease...
  16. ncbi request reprint Dystonia genotypes, phenotypes, and classification
    Susan B Bressman
    Department of Neurology, Beth Israel Medical Center, Albert Einstein College of Medicine, Bronx, New York, USA
    Adv Neurol 94:101-7. 2004
  17. pmc Primary dystonia: moribund or viable
    Susan B Bressman
    Department of Neurology, Beth Israel Medical Center, New York, New York, USA
    Mov Disord 28:906-13. 2013
    ..This editorialized review discusses the impact of recent findings on primary dystonia criteria and argues that it remains useful in clinical and research practice. © 2013 Movement Disorder Society. ..
  18. doi request reprint Genetics of dystonia: an overview
    Susan B Bressman
    Department of Neurology, Beth Israel Medical Center, Albert Einstein College of Medicine New York, NY 10003, USA
    Parkinsonism Relat Disord 13:S347-55. 2007
    ..These advances provide a widened platform for future research...
  19. ncbi request reprint Penetrance and expression of dystonia genes
    Rachel Saunders-Pullman
    Department of Neurology, Beth Israel Medical Center, New York, New York, USA
    Adv Neurol 94:121-5. 2004
  20. pmc Diagnosis and referral delay in women with Parkinson's disease
    Rachel Saunders-Pullman
    Department of Neurology, Beth Israel Medical Center, New York, New York 10003, USA
    Gend Med 8:209-17. 2011
    ..Gender differences in Parkinson's disease may be attributable to biological and environmental factors as well as health care-seeking behaviors and diagnosis bias...
  21. doi request reprint Milestones in dystonia
    Laurie J Ozelius
    Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, New York, USA
    Mov Disord 26:1106-26. 2011
    ..The challenge ahead includes continued advancement into understanding dystonia's many underlying causes and associated pathology and using this knowledge to advance treatment including preventing genetic disease expression...
  22. doi request reprint Rapid-onset dystonia-parkinsonism
    Howard L Geyer
    Division of Movement Disorders, Department of Neurology, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, NY 10467, USA
    Handb Clin Neurol 100:559-62. 2011
    ..It results from abnormalities in the Na(+)/K(+)-ATPase pump due to mutations in the ATP1A3 gene. This chapter reviews the clinical features, genetics, and diagnosis of this disorder...
  23. doi request reprint Pallidal deep brain stimulation for primary dystonia in children
    Abilash Haridas
    Department of Neurosurgery, Mount Sinai School of Medicine, New York, NY 10029, USA
    Neurosurgery 68:738-43; discussion 743. 2011
    ....
  24. ncbi request reprint The metabolic pathology of dopa-responsive dystonia
    Kotaro Asanuma
    Center for Neurosciences, Institute for Medical Research, North Shore Long Island Jewish Health System, Manhasset, New York, NY, USA
    Ann Neurol 57:596-600. 2005
    ..This pattern was not expressed in mutation carriers for primary torsion dystonia. Dopa-responsive dystonia has a unique metabolic architecture that differs from other inherited forms of dystonia...
  25. ncbi request reprint The diagnosis of dystonia
    Howard L Geyer
    Department of Neurology, Albert Einstein College of Medicine, Bronx, NY 10461, USA
    Lancet Neurol 5:780-90. 2006
    ..The more common forms of dystonia are discussed in detail. Finally, we describe how to apply the clinical information for selection of appropriate laboratory investigations...
  26. ncbi request reprint A heteroplasmic mitochondrial complex I gene mutation in adult-onset dystonia
    David K Simon
    Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Institutes of Medicine, Boston, MA 02115, USA
    Neurogenetics 4:199-205. 2003
    ..01). This difference remains significant even after excluding the index patient (P=0.04). These data suggest that, among haplogroup H subjects, the presence of the A3796G mutation increases the risk of developing adult-onset dystonia...
  27. ncbi request reprint Inherited myoclonus-dystonia
    Rachel Saunders-Pullman
    Department of Neurology, Beth Israel Medical Center, New York, New York, USA
    Adv Neurol 89:185-91. 2002