Joel S. Perlmutter

ORCID: 0000-0003-3263-8917
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About
Contact & Profiles
Research Areas
  • Neurological disorders and treatments
  • Parkinson's Disease Mechanisms and Treatments
  • Botulinum Toxin and Related Neurological Disorders
  • Genetic Neurodegenerative Diseases
  • Medical Imaging Techniques and Applications
  • Neuroscience and Neuropharmacology Research
  • Functional Brain Connectivity Studies
  • Advanced MRI Techniques and Applications
  • Alzheimer's disease research and treatments
  • Receptor Mechanisms and Signaling
  • Neurological diseases and metabolism
  • Transcranial Magnetic Stimulation Studies
  • Advanced Neuroimaging Techniques and Applications
  • Neurotransmitter Receptor Influence on Behavior
  • Nuclear Receptors and Signaling
  • Mitochondrial Function and Pathology
  • Cerebral Palsy and Movement Disorders
  • Radiopharmaceutical Chemistry and Applications
  • Pharmacological Receptor Mechanisms and Effects
  • Neurological and metabolic disorders
  • Sphingolipid Metabolism and Signaling
  • RNA regulation and disease
  • Cholinesterase and Neurodegenerative Diseases
  • Dementia and Cognitive Impairment Research
  • Nicotinic Acetylcholine Receptors Study

Washington University in St. Louis
2016-2025

American Physical Therapy Association
2007-2023

Hope Center for Neurological Disorders
1992-2023

Mallinckrodt (United States)
2010-2022

Mayo Clinic
2021

Mayo Clinic in Arizona
2021

Brigham and Women's Hospital
2021

The Neurological Institute
2020

Louis Stokes Cleveland VA Medical Center
2020

University of Rochester
2002-2020

Extant methods for anatomical localization within a physiological image are inadequate precise regional correlations between anatomy and physiology. We have developed method determining the location of any region interest positron emission tomographic (PET) by transformation coordinates into stereotactic atlas human brain. The specific assumptions this approach were identified validated groups normal subjects means measurements made from lateral skull radiographs nuclear magnetic resonance...

10.1097/00004728-198501000-00025 article EN Journal of Computer Assisted Tomography 1985-01-01
Laurie Robak Iris E. Jansen Jeroen van Rooij André G. Uitterlinden Robert Kraaij and 95 more Joseph Jankovic Peter Heutink Joshua Shulman Mike A. Nalls Vincent Plagnol Dena G Hernandez Manu Sharma Una‐Marie Sheerin Mohamad Saad Javier Simón‐Sánchez Claudia Schulte Suzanne Lesage Sigurlaug Sveinbjörnsdóttir Sampath Arepalli Roger A. Barker Yoav Ben- Henk W. Berendse Daniela Berg Kailash P. Bhatia Rob M.A. de Bie Alessandro Biffi Bas R. Bloem Zoltán Bochdanovits Michael Bonin José Brás Kathrin Brockmann Janet Brooks David J. Burn Elisa Majounie Gavin Charlesworth Codrin Lungu Honglei Chen Patrick F. Chinnery Sean Chong Carl E Clarke Mark Cookson Jonathan M. Cooper Jean‐Christophe Corvol Carl Counsell Philippe Damier Jean‐François Dartigues Panos Deloukas Günther Deuschl David T. Dexter Karin D. van Dijk Allissa Dillman F. Durif Alexandra Dürr Sarah Edkins Jonathan Evans Thomas Foltynie Jing Dong Michelle Gardner J. Raphael Gibbs Alison Goate Emma Gray Rita Guerreiro Clare Harris Jacobus J. van Hilten Albert Hofman Albert R. Hollenbeck Janice L. Holton Joshua Shulman Joshua Shulman Isabel Wurster Walter Mätzler Gavin Hudson Sarah Hunt Johanna Huttenlocher Thomas Illig Pálmi V. Jónsson Jean‐Charles Lambert Cordelia Langford Andrew J. Lees Peter Lichtner Patricia Limousin Grisel Lopez Delia Lorenz Codrin Lungu Alisdair McNeill Catriona Moorby Matthew Moore Huw R. Morris Karen Morrison Valentina Escott‐Price Ese Mudanohwo Sean S. O’Sullivan Justin Pearson Joel S. Perlmutter Hjörvar Pétursson Pierre Pollak Bart Post Simon Potter Bernard Ravina Tamás Révész

Mutations in the glucocerebrosidase gene (GBA), which cause Gaucher disease, are also potent risk factors for Parkinson's disease. We examined whether a genetic burden of variants other lysosomal storage disorder genes is more broadly associated with disease susceptibility. The sequence kernel association test was used to interrogate variant among 54 genes, leveraging whole exome sequencing data from 1156 cases and 1679 control subjects. discovered significant rare, likely damaging risk....

10.1093/brain/awx285 article EN Brain 2017-10-12

Classical accounts of the pathophysiology Parkinson's disease have emphasized degeneration dopaminergic nigrostriatal neurons with consequent dysfunction cortico–striatal–thalamic loops. In contrast, post-mortem studies indicate that pathological changes in (Lewy neurites and Lewy bodies) first appear primarily lower brainstem subsequent progression to more rostral parts neuraxis. The histological perspectives are not incompatible, but they do emphasize different anatomical structures. To...

10.1093/brain/aws281 article EN Brain 2012-11-28
M. Flint Beal David Oakes Ira Shoulson Claire Henchcliffe Wendy R. Galpern and 95 more Richard Haas Jorge L. Juncos John G. Nutt Tiffini Voss Bernard Ravina Clifford M. Shults Karen Helles Victoria Snively Mark Lew Brian Griebner Arthur Watts Shan Gao Emmanuelle Pourcher Louisette Bond Katie Kompoliti Pinky Agarwal Cherissa Sia Mandar Jog Linda Cole Munira Sultana Roger Kurlan Irene Hegeman Richard Cheryl Deeley Cheryl Waters Angel Figueroa Ani Arkun Matthew Brodsky William G. Ondo Christine Hunter Joohi Jimenez‐Shahed Alicia Palao Janis M. Miyasaki Julie So James W. Tetrud Liza Reys Katharine Smith Carlos Singer Anita Blenke David Russell Candace Cotto Joseph H. Friedman Margaret C. Lannon Lin Zhang Edward Drasby Rajeev Kumar Thyagarajan Subramanian Donna Stuppy Ford David A. Grimes Diane Côté Jennifer Conway Andrew Siderowf Marian L. Evatt Barbara Sommerfeld Abraham Lieberman Michael S. Okun Ramon L. Rodriguez Stacy Merritt Camille Swartz W. R. Wayne Martin Pamela King Natividad Stover Stephanie Guthrie Ray L. Watts Anwar Ahmed Hubert H. Fernandez Adrienna Winters Zoltán Mari Ted M. Dawson Becky Dunlop Andrew Feigin Barbara Shannon Melissa J. Nirenberg Mattson Ogg Samuel A. Ellias Cathi-Ann Thomas Karen Frei Iván Bódis-Wollner Sofya Glazman Thomas A. Mayer Robert A. Hauser Rajesh Pahwa April Langhammer Ranjit Ranawaya Lorelei Derwent Kapil D. Sethi Buff Farrow Rajan Prakash Irene Litvan Annette Robinson Alok Sahay Maureen Gartner Vanessa K. Hinson Samuel Markind Melisa Pelikan Joel S. Perlmutter

<h3>Importance</h3> Coenzyme Q10 (CoQ10), an antioxidant that supports mitochondrial function, has been shown in preclinical Parkinson disease (PD) models to reduce the loss of dopamine neurons, and was safe well tolerated early-phase human studies. A previous phase II study suggested possible clinical benefit. <h3>Objective</h3> To examine whether CoQ10 could slow progression early PD. <h3>Design, Setting, Participants</h3> III randomized, placebo-controlled, double-blind trial at 67 North...

10.1001/jamaneurol.2014.131 article EN JAMA Neurology 2014-03-25

<h3>Objective:</h3> To investigate the utilization of neurologist providers in treatment patients with Parkinson disease (PD) United States and determine whether is associated improved clinical outcomes. <h3>Methods:</h3> This was a retrospective observational cohort study Medicare beneficiaries PD year 2002. Multilevel logistic regression used to which patient characteristics predicted care between 2002 2005 compare age, race, sex, comorbidity-adjusted annual risk skilled nursing facility...

10.1212/wnl.0b013e31822c9123 article EN Neurology 2011-08-11

Interview with Dr. Gil Rabinovici on the FDA's controversial approval of a new treatment for Alzheimer's disease. (16:39)Download Given scientific, regulatory, and clinical implications accelerated FDA aducanumab disease, it's essential to consider beta-amyloid's suitability as surrogate end point. Doing so casts doubt wisdom decision.

10.1056/nejmp2110468 article EN New England Journal of Medicine 2021-07-28

Abstract The defining feature of Parkinson disease (PD) and Lewy body dementia (LBD) is the accumulation alpha-synuclein (Asyn) fibrils in bodies neurites. Here we develop validate a method to amplify Asyn extracted from LBD postmortem tissue samples use solid state nuclear magnetic resonance (SSNMR) studies determine atomic resolution structure. Amplified comprise mixture single protofilament two with very low twist. fold highly similar determined by recent cryo-electron microscopy study...

10.1038/s41467-024-46832-5 article EN cc-by Nature Communications 2024-03-29

We investigated swallowing abnormalities in patients with Parkinson's disease, the relationship between these and general parkinsonian signs, as well response to therapy. Twenty 13 controls were evaluated clinical rating scales modified barium swallows before after oral levodopa (in combination carbidopa). Fifteen patients, but only 1 control, had abnormal (chi 2 = 11.722, df 1, p less than 0.001). Abnormalities included disturbances of pharyngeal phases swallowing. Patients without...

10.1212/wnl.39.10.1309 article EN Neurology 1989-10-01

Positron emission tomography was used to study eight patients with panic disorder who were vulnerable lactate-induced panic, not and 25 normal control subjects. Patients had several abnormalities in the resting, nonpanic state: an abnormal hemispheric asymmetry of parahippocampal blood flow, volume, oxygen metabolism; abnormally high whole brain susceptibility episodic hyperventilation. A hypothetical model for neurobiology disorder, involving region its afferent efferent connections, is proposed.

10.1176/ajp.143.4.469 article EN American Journal of Psychiatry 1986-04-01

<i>Objective:</i> To determine whether welding-related parkinsonism differs from idiopathic PD. <i>Background:</i> Welding is considered a cause of parkinsonism, but little information available about the clinical features exhibited by patients or this distinct disorder. <i>Methods:</i> The authors performed case-control study that compared 15 career welders, who were ascertained through an academic movement disorders center and to two control groups with One group was sequentially compare...

10.1212/wnl.56.1.8 article EN Neurology 2001-01-09

<b>Objective: </b> To define key issues in the diagnosis of Parkinson disease (PD), to features influencing progression, and make evidence-based recommendations. Two clinical questions were identified: 1) Which diagnostic modalities distinguish PD from other parkinsonian syndromes? 2) predict rate progression? <b>Methods: Systematic review literature was completed. Articles classified according a four-tiered level evidence scheme. Recommendations based on evidence. <b>Results Conclusions: 1....

10.1212/01.wnl.0000215437.80053.d0 article EN Neurology 2006-04-04

Objective: To define key issues in the management of Parkinson disease (PD) relating to neuroprotective strategies and alternative treatments, make evidence-based treatment recommendations.Methods: Two clinical questions were identified.1) In a patient diagnosed with PD, are there any therapies that can slow progression?2) Are nonstandard pharmacologic or nonpharmacologic have been shown improve motor function PD? Articles classified according four-tiered level evidence...

10.1212/01.wnl.0000206363.57955.1b article EN Neurology 2006-04-04

van Mier, H., L. W. Tempel, J. S. Perlmutter, M. E. Raichle, and Petersen. Changes in brain activity during motor learning measured with PET: effects of hand performance practice. Neurophysiol. 80: 2177–2199, 1998. The aim this study is to assess continuous design tracing tasks. Three issues were addressed: identification areas involved performing maze square tasks, investigation differences similarities these related dominant nondominant performance, most importantly, examination the...

10.1152/jn.1998.80.4.2177 article EN Journal of Neurophysiology 1998-10-01

In this study we have investigated the pathophysiology of two idiopathic focal dystonias: hand cramp with excessive cocontractions agonist and antagonist or forearm muscles during specific tasks, such as writing, facial dystonia manifested by involuntary eyelid spasms (blepharospasm) lower jaw (oromandibular dystonia). We used positron emission tomography (PET) to measure in vivo binding dopaminergic radioligand [ 18 F]spiperone putamen 21 patients these dystonias compared findings those...

10.1523/jneurosci.17-02-00843.1997 article EN cc-by-nc-sa Journal of Neuroscience 1997-01-15

<b><i>Objective:</i></b> To assess whether subthalamic nuclei (STN) stimulation's primary mechanism of action is to drive or inhibit output neurons. <b><i>Methods:</i></b> Cerebral blood flow responses STN stimulation were measured using PET in 13 patients with Parkinson disease. Patients scanned stimulators off and on (six scans each condition). Clinical ratings, EMG, videotaping movements obtained at scan. Scans observable tremor movement eliminated from analysis. Brain regions where...

10.1212/01.wnl.0000083991.81859.73 article EN Neurology 2003-09-23

To test the hypothesis that subthalamic nucleus (STN) stimulation in Parkinson disease (PD) patients affects working memory and response inhibition performance, particularly under conditions of high demand on cognitive control.To this hypothesis, spatial (spatial delayed [SDR]) (Go-No-Go [GNG]) tasks requiring varying levels control were administered to with PD previously implanted bilateral STN stimulators (n = 24). Patients did not take medications overnight. Data collected while off,...

10.1212/01.wnl.0000118202.19098.10 article EN Neurology 2004-04-13

To determine the relative contributions of individual pathologic protein deposits associated with dementia in patients Parkinson disease (PD).

10.1001/archneurol.2012.1608 article EN Archives of Neurology 2012-07-17
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