Research Topics
Genomes and Genes | Rachel Saunders-PullmanSummaryAffiliation: Beth Israel Medical Center Country: USA Publications
| Collaborators
|
Detail Information
Publications
Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian MennonitesR 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...
Myoclonus dystonia: possible association with obsessive-compulsive disorder and alcohol dependenceR 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...- LRRK2 G2019S mutations are associated with an increased cancer risk in Parkinson diseaseRachel 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... - Validity of spiral analysis in early Parkinson's diseaseRachel 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... - Narrowing the DYT6 dystonia region and evidence for locus heterogeneity in the Amish-MennonitesRachel 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... - 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... - Gaucher disease ascertained through a Parkinson's center: imaging and clinical characterizationRachel 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... - Increased frequency of the LRRK2 G2019S mutation in an elderly Ashkenazi Jewish population is not associated with dementiaRachel 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... 
Diagnosis and referral delay in women with Parkinson's diseaseRachel 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...- A new screening tool for cervical dystoniaR 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... - Phenylalanine loading as a diagnostic test for DRD: interpreting the utility of the testR 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... - Olfactory dysfunction in LRRK2 G2019S mutation carriersR 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... - 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... - Clinical expression of LRRK2 G2019S mutations in the elderlyMarta 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... - Mood and cognition in leucine-rich repeat kinase 2 G2019S Parkinson's diseaseVicki 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... - Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening studySusan 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... - Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with epsilon-sarcoglycan mutationsDeborah 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... - Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystoniaTania 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... - Clinical and neurophysiological improvement of SGCE myoclonus-dystonia with GPi deep brain stimulationMonica 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... - Mutations in GNAL cause primary torsion dystoniaTania 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... - Pallidal deep brain stimulation for DYT6 dystoniaFedor 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)... - The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 geneAllison 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... - Genetic evidence for an association of the TOR1A locus with segmental/focal dystoniaNutan 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... - Metabolic changes in DYT11 myoclonus-dystoniaMaren Carbon
From the Center for Neurosciences M C, V D, D E, The Feinstein Institute for Medical Research, Manhasset Mirken Department of Neurology D R, R S P, S B, Beth Israel Medical Center, New York and Department of Neurology L O, S F, Mount Sinai School of Medicine, New York, NY
Neurology 80:385-91. 2013.... - Substance abuse and movement disordersMarta 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... - Responsiveness to levodopa in epsilon-sarcoglycan deletionsMarta 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... - Penetrance and expression of dystonia genesRachel Saunders-Pullman
Department of Neurology, Beth Israel Medical Center, New York, New York, USA
Adv Neurol 94:121-5. 2004 - Endogenous estradiol is associated with verbal memory in nondemented older menMolly 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... - Movement disorders and alcohol misuseChristopher 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... - Inherited myoclonus-dystoniaRachel Saunders-Pullman
Department of Neurology, Beth Israel Medical Center, New York, New York, USA
Adv Neurol 89:185-91. 2002 - Metabolomic profiling to develop blood biomarkers for Parkinson's diseaseMikhail 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... - Substance abuse and movement disorders: complex interactions and comorbiditiesAndres 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)... - LRRK2 G2019S as a cause of Parkinson's disease in Ashkenazi JewsLaurie J Ozelius
N Engl J Med 354:424-5. 2006