Rachel Saunders-Pullman

Summary

Affiliation: Beth Israel Medical Center
Country: USA

Publications

  1. pmc Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites
    R Saunders-Pullman
    Department of Neurology, Beth Israel Medical Center, New York, NY, USA
    Neurology 78:649-57. 2012
  2. ncbi request reprint Myoclonus dystonia: possible association with obsessive-compulsive disorder and alcohol dependence
    R Saunders-Pullman
    Department of Neurology, Beth Israel Medical Center, New York, NY 10003, USA
    Neurology 58:242-5. 2002
  3. pmc Olfactory dysfunction in LRRK2 G2019S mutation carriers
    R Saunders-Pullman
    Department of Neurology, Beth Israel Medical Center, 10 Union Square East, Suite 5J, New York, NY 10003, USA
    Neurology 77:319-24. 2011
  4. 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
  5. pmc Gender differences in the risk of familial parkinsonism: beyond LRRK2?
    R Saunders-Pullman
    Department of Neurology, Beth Israel Medical Center, 10 Union Square East, Suite 5J, New York, NY 10003, USA
    Neurosci Lett 496:125-8. 2011
  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. pmc Gaucher disease ascertained through a Parkinson's center: imaging and clinical characterization
    Rachel Saunders-Pullman
    Department of Neurology, Beth Israel Medical Center, New York, New York 10003, USA
    Mov Disord 25:1364-72. 2010
  8. ncbi request reprint Validity of spiral analysis in early Parkinson's disease
    Rachel Saunders-Pullman
    Department of Neurology, Beth Israel Medical Center, New York, New York 10003, USA
    Mov Disord 23:531-7. 2008
  9. ncbi request reprint Narrowing the DYT6 dystonia region and evidence for locus heterogeneity in the Amish-Mennonites
    Rachel Saunders-Pullman
    Department of Neurology, Beth Israel Medical Center, New York, New York 10003, USA
    Am J Med Genet A 143:2098-105. 2007
  10. ncbi request reprint Estrogens and Parkinson disease: neuroprotective, symptomatic, neither, or both?
    Rachel Saunders-Pullman
    Department of Neurology, Albert Einstein College of Medicine and Beth Israel Medical Center, New York, NY 10003, USA
    Endocrine 21:81-7. 2003

Detail Information

Publications38

  1. pmc Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites
    R Saunders-Pullman
    Department of Neurology, Beth Israel Medical Center, New York, NY, USA
    Neurology 78:649-57. 2012
    ..To compare the phenotype of primary-appearing dystonia due to variant ataxia-telangiectasia (A-T) with that of other dystonia ascertained for genetics research...
  2. ncbi request reprint Myoclonus dystonia: possible association with obsessive-compulsive disorder and alcohol dependence
    R Saunders-Pullman
    Department of Neurology, Beth Israel Medical Center, New York, NY 10003, USA
    Neurology 58:242-5. 2002
    ..Inherited myoclonus-dystonia (M-D) is a disorder that is characterized primarily by myoclonic jerks and is often accompanied by dystonia. In addition to motor features, psychiatric disease is reported in some families...
  3. pmc Olfactory dysfunction in LRRK2 G2019S mutation carriers
    R Saunders-Pullman
    Department of Neurology, Beth Israel Medical Center, 10 Union Square East, Suite 5J, New York, NY 10003, USA
    Neurology 77:319-24. 2011
    ..It is also unclear whether mutation carriers who have not yet manifested with PD have olfactory disturbances...
  4. 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...
  5. pmc Gender differences in the risk of familial parkinsonism: beyond LRRK2?
    R Saunders-Pullman
    Department of Neurology, Beth Israel Medical Center, 10 Union Square East, Suite 5J, New York, NY 10003, USA
    Neurosci Lett 496:125-8. 2011
    ..Further study that evaluates family information bias and assesses the role of glucocerebrosidase mutations is indicated...
  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. pmc Gaucher disease ascertained through a Parkinson's center: imaging and clinical characterization
    Rachel Saunders-Pullman
    Department of Neurology, Beth Israel Medical Center, New York, New York 10003, USA
    Mov Disord 25:1364-72. 2010
    ..The imaging, neuropsychological and olfactory markers suggest the GD phenotype includes PD with and without features of DLB, marked olfactory loss, nigral hyperechogenicity on TCS, and F-dopa and FDG PET abnormalities...
  8. ncbi request reprint Validity of spiral analysis in early Parkinson's disease
    Rachel Saunders-Pullman
    Department of Neurology, Beth Israel Medical Center, New York, New York 10003, USA
    Mov Disord 23:531-7. 2008
    ..This suggests that the spiral analysis may supplement motor assessment in PD, although further analysis of spiral metrics, a larger sample and longitudinal data should be evaluated...
  9. ncbi request reprint Narrowing the DYT6 dystonia region and evidence for locus heterogeneity in the Amish-Mennonites
    Rachel Saunders-Pullman
    Department of Neurology, Beth Israel Medical Center, New York, New York 10003, USA
    Am J Med Genet A 143:2098-105. 2007
    ..In summary, the DYT6 gene is in a 23 cM region on chromosome 8q21-22 and does not account for all familial PTD in Amish-Mennonites...
  10. ncbi request reprint Estrogens and Parkinson disease: neuroprotective, symptomatic, neither, or both?
    Rachel Saunders-Pullman
    Department of Neurology, Albert Einstein College of Medicine and Beth Israel Medical Center, New York, NY 10003, USA
    Endocrine 21:81-7. 2003
    ..The selective estrogen receptor modulators (SERMs) may also confer neuroprotection. However, prior to establishing the role of estrogen in Parkinson disease, additional study, including of the SERMs, is warranted...
  11. ncbi request reprint Increased frequency of the LRRK2 G2019S mutation in an elderly Ashkenazi Jewish population is not associated with dementia
    Rachel Saunders-Pullman
    Department of Neurology, Albert Einstein College of Medicine, Bronx, NY, United States
    Neurosci Lett 402:92-6. 2006
    ..Therefore, the LRRK2 mutation has a relatively high frequency in the AJ population, is not fully penetrant for parkinsonism in the elderly, and does not appear to be commonly associated with late-onset dementia...
  12. ncbi request reprint A new screening tool for cervical dystonia
    R Saunders-Pullman
    Department of Neurology, Beth Israel Medical Center, 10 Union Square E, Suite 5J, PACC, New York, NY 10003, USA
    Neurology 64:2046-9. 2005
    ..As a low-cost highly sensitive screening tool is needed to improve case detection for genetic and epidemiologic studies, the authors developed the Beth Israel Dystonia Screen (BIDS), a computer-assisted telephone interview...
  13. ncbi request reprint Phenylalanine loading as a diagnostic test for DRD: interpreting the utility of the test
    R Saunders-Pullman
    Department of Neurology, Beth Israel Medical Center, New York, NY, USA
    Mol Genet Metab 83:207-12. 2004
    ..We propose that in cases where this minimum plasma phenylalanine level is not reached, plasma tetrahydrobiopterin should be measured or alternatively other symptomatic family members should be screened...
  14. pmc Metabolic changes in DYT11 myoclonus-dystonia
    Maren Carbon
    Center for Neurosciences, The Feinstein Institute for Medical Research, Manhasset, NY, USA
    Neurology 80:385-91. 2013
    ....
  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. pmc Mood and cognition in leucine-rich repeat kinase 2 G2019S Parkinson's disease
    Vicki Shanker
    Beth Israel Medical Center, 10 Union Square East, Suite 5H, New York, NY 10003, USA
    Mov Disord 26:1875-80. 2011
    ..Study findings suggest a possible association between premorbid mood disorders and leucine-rich repeat kinase Parkinson's disease, warranting further evaluation...
  17. 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...
  18. doi request reprint Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with epsilon-sarcoglycan mutations
    Deborah Raymond
    The Alan and Barbara Mirken Department of Neurology, Beth Israel Medical Center, New York, New York 10003, USA
    Mov Disord 23:588-92. 2008
    ..0097). We found no association between mutation type and phenotype...
  19. 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...
  20. pmc Clinical and neurophysiological improvement of SGCE myoclonus-dystonia with GPi deep brain stimulation
    Monica M Kurtis
    Columbia University Medical Center, New York, NY 10032, United States
    Clin Neurol Neurosurg 112:149-52. 2010
    ..She showed excellent clinical and neurophysiological improvement of both myoclonus and dystonia, suggesting that modulation by DBS is effective even after long disease duration and only partial response to oral medications...
  21. pmc Parkinson disease phenotype in Ashkenazi Jews with and without LRRK2 G2019S mutations
    Roy N Alcalay
    Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA Taub Institute for Research on Alzheimer s Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University, New York, New York, USA
    Mov Disord 28:1966-71. 2013
    ..PD in AJ LRRK2 G2019S mutation carriers is similar to idiopathic PD but is characterized by more frequent lower extremity involvement at onset and PIGD without the associated cognitive impairment...
  22. 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...
  23. 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)...
  24. 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...
  25. 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...
  26. 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...
  27. pmc Substance abuse and movement disorders: complex interactions and comorbidities
    Andres Deik
    Beth Israel Medical Center, NY, USA
    Curr Drug Abuse Rev 5:243-53. 2012
    ..Lastly, we discuss the potential for abuse of antiparkinsonian dopaminergic agents in patients with Parkinson's disease (PD)...
  28. ncbi request reprint Substance abuse and movement disorders
    Marta San Luciano
    Beth Israel Medical Center, New York, NY 10003, USA
    Curr Drug Abuse Rev 2:273-8. 2009
    ..Lastly, we discuss the abuse potential of the dopaminergic agents, apomorphine and levodopa, in patients with Parkinson's disease...
  29. ncbi request reprint Responsiveness to levodopa in epsilon-sarcoglycan deletions
    Marta San Luciano
    Department of Neurology, Beth Israel Medical Center, New York, New York 10003, USA
    Mov Disord 24:425-8. 2009
    ..In contrast to using dopamine blocking agents suggested by the hyperdopaminergic knockout model, we propose that a trial of L-dopa may be considered in patients with myoclonus-dystonia...
  30. 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
  31. pmc Endogenous estradiol is associated with verbal memory in nondemented older men
    Molly E Zimmerman
    Albert Einstein College of Medicine, Department of Neurology, Bronx, NY 10461, USA
    Brain Cogn 76:158-65. 2011
    ..These findings indicate that high levels of total estradiol in older men are associated with better performance on a cue-based, controlled learning test of verbal memory that is a sensitive predictor of dementia...
  32. ncbi request reprint Atypical presentation of late-onset Tay-Sachs disease
    Andres Deik
    Department of Neurology, Beth Israel Medical Center, New York, New York, USA University of Pennsylvania, Parkinson Disease and Movement Disorders Center, 330 S 9th Street, 2nd Floor, Suite 219, Philadelphia, Pennsylvania, 19107, USA
    Muscle Nerve 49:768-71. 2014
    ..Late-onset Tay-Sachs disease (LOTS) is a lysosomal storage disease caused by deficient Beta-hexosaminidase A activity...
  33. 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. ..
  34. ncbi request reprint Movement disorders and alcohol misuse
    Christopher W Hess
    Department of Neurology, Albert Einstein College of Medicine, USA
    Addict Biol 11:117-25. 2006
    ..We also discuss shared pathophysiologic mechanisms in the understanding of both of these disorders, as the elucidation of the mechanisms by which alcohol exerts its effects may lead to novel therapeutic approaches...
  35. 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
  36. ncbi request reprint Metabolomic profiling to develop blood biomarkers for Parkinson's disease
    Mikhail Bogdanov
    Department of Neurology and Neuroscience, Weill Medical College of Cornell University, New York Presbyterian Hospital, 525 East 68th Street, F610, New York, NY 10021, USA
    Brain 131:389-96. 2008
    ..These findings show that metabolomic profiling with LCECA coulometric array has great promise for developing biomarkers for both the diagnosis, as well as monitoring disease progression in PD...
  37. pmc Genome-wide mapping of IBD segments in an Ashkenazi PD cohort identifies associated haplotypes
    Vladimir Vacic
    Department of Computer Science, Columbia University, New York, NY, USA
    Hum Mol Genet 23:4693-702. 2014
    ..Our results highlight the power of our haplotype association method, particularly useful in studies of founder populations, and reaffirm the benefits of studying complex diseases in Ashkenazi Jewish cohorts. ..
  38. ncbi request reprint LRRK2 G2019S as a cause of Parkinson's disease in Ashkenazi Jews
    Laurie J Ozelius
    N Engl J Med 354:424-5. 2006