Article
Peripheral Vascular Disease
Cyndya A. Shibao, Jose-Alberto Palma, Jorge E. Celedonio, Jose Martinez, Horacio Kaufmann, Italo Biaggioni
Summary: Plasma norepinephrine levels were moderately associated with the pressor response to atomoxetine in patients with neurogenic orthostatic hypotension. Additionally, the improvement in symptoms related to neurogenic orthostatic hypotension was associated with an increase in the pressor response to atomoxetine.
Article
Clinical Neurology
Anne Pavy-Le Traon, Alexandra Foubert-Samier, Fabienne Ory-Magne, Margherita Fabbri, Jean-Michel Senard, Wassilios G. Meissner, Olivier Rascol, Jacques Amar
Summary: This study investigated the association between mortality, 24-hour blood pressure level and variability, and drug treatments for orthostatic hypotension (OH) in patients with multiple system atrophy (MSA). The results showed that increased daytime blood pressure variability and OH treatment were independently predictive of mortality in MSA patients, regardless of disease severity.
EUROPEAN JOURNAL OF NEUROLOGY
(2022)
Article
Clinical Neurology
Claire Georges, Santiago Lloret-Perez, Fabienne Ory-Magne, Margherita Fabbri, Alexandra Foubert-Samier, Wassilios G. Meissner, Olivier Rascol, Anne Pavy-Le Traon
Summary: Assessing sweating dysfunction through electrochemical skin conductance (ESC) can serve as a marker for autonomic failure in patients with Multiple System Atrophy (MSA). Abnormal ESC in the hands and feet is significantly correlated to disease severity and autonomic failure features.
PARKINSONISM & RELATED DISORDERS
(2022)
Review
Clinical Neurology
David S. Goldstein, Risa Isonaka, Guillaume Lamotte, Horacio Kaufmann
Summary: Pure autonomic failure (PAF) is a rare disease characterized by chronic neurogenic orthostatic hypotension. Some cases may progress to Parkinson's disease (PD), dementia with Lewy bodies (DLB), or multiple system atrophy (MSA), but the pathologies and neurochemical features of different types of PAF are distinct.
CLINICAL AUTONOMIC RESEARCH
(2021)
Review
Clinical Neurology
Alejandra Gonzalez-Duarte, Aditi Varma-Doyle, Roy Freeman
Summary: PAF is a peripheral autonomic neurodegenerative disease caused by alpha-synuclein deposition, with chronic features of autonomic failure. Diagnostic biomarkers include skin immunohistochemistry for alpha-synuclein and measuring cerebrospinal fluid alpha-synuclein oligomers. A considerable number of PAF patients may convert to a central alpha-synucleinopathy.
CURRENT OPINION IN NEUROLOGY
(2021)
Article
Clinical Neurology
Paula Trujillo, Olivia C. Roman, Kaitlyn R. Hay, Meher R. Juttukonda, Yan Yan, Hakmook Kang, Sachin Y. Paranjape, Emily M. Garland, Cyndya A. Shibao, Italo Biaggioni, Manus J. Donahue, Daniel O. Claassen
Summary: The study indicates that PAF patients may exhibit elevated CBF and suggests that this condition exerts a hemodynamic impact in the central nervous system.
CLINICAL AUTONOMIC RESEARCH
(2021)
Article
Cardiac & Cardiovascular Systems
Luis E. Okamoto, Jorge E. Celedonio, Emily C. Smith, Alfredo Gamboa, Cyndya A. Shibao, Andre Diedrich, Sachin Y. Paranjape, Bonnie K. Black, James A. S. Muldowney, Amanda C. Peltier, Ralf Habermann, Craig G. Crandall, Italo Biaggioni
Summary: Local heat therapy effectively lowers overnight blood pressure in patients with autonomic failure and supine hypertension, providing a novel approach to treating this condition. Further studies are needed to assess long-term safety and efficacy in improving nighttime fluid loss and daytime orthostatic hypotension.
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2021)
Article
Clinical Neurology
Ann M. Schmeichel, Elizabeth A. Coon, Joseph E. Parisi, Wolfgang Singer, Phillip A. Low, Eduardo E. Benarroch
Summary: The study found decreased numbers of GAD-immunoreactive neurons in the LPGi and adjacent VLM regions in patients with MSA, indicating a loss of GABAergic neurons which may contribute to REM sleep-related cardiovagal and possibly respiratory dysregulation. Further research is needed to confirm these findings and explore their implications.
Article
Clinical Neurology
Arthur Lo, Lucy Norcliffe-Kaufmann, Ross Vickery, David Bourdet, Jitendra Kanodia
Summary: This study investigated the pharmacokinetic and pharmacodynamic profiles of ampreloxetine in patients with autonomic synucleinopathies. Results showed a significant increase in plasma NE levels, a decrease in plasma DHPG levels, and an increase in the NE:DHPG ratio after treatment. This suggests that ampreloxetine can reduce neuronal reuptake and metabolism of NE, supporting once-daily dosing in patients with neurogenic orthostatic hypotension.
CLINICAL AUTONOMIC RESEARCH
(2021)
Article
Neurosciences
Antonio R. Zamuner, Maura Minonzio, Dana Shiffer, Roberto Fornerone, Beatrice Cairo, Alberto Porta, Stefano Rigo, Raffaello Furlan, Franca Barbic
Summary: This study evaluated autonomic and work ability impairment in PAF patients, finding that those who were better able to modulate heart rate during orthostatic stimuli tended to have higher work ability levels. This suggests potential new strategies in the occupational environment to prevent early retirement or extend the working life of these patients.
FRONTIERS IN HUMAN NEUROSCIENCE
(2021)
Article
Clinical Neurology
Francesca Baschieri, Luisa Sambati, Pietro Guaraldi, Giorgio Barletta, Pietro Cortelli, Giovanna Calandra-Buonaura
Summary: Neurogenic orthostatic hypotension (NOH) is not common in early stage Parkinson's disease (PD). A prospective study showed that PD patients had mild sympathetic impairment at first evaluation, which worsened with disease progression. Some patients with orthostatic symptoms did not have low blood pressure during testing.
PARKINSONISM & RELATED DISORDERS
(2021)
Article
Public, Environmental & Occupational Health
Prabin Khatri, Himal Panth, Sabina Khadka, Pramila Thapa, Rajshree Regmi, Sunil Shah, Sumit Gami, Ashutosh Upadhyaya, Mohammad Rizwan Alam, Srijana Sharma
Summary: Pure autonomic failure is a neurodegenerative disorder that presents with orthostatic hypotension. Diagnosis is made through clinical examinations and investigations, with a focus on autonomic dysfunction tests. Treatment includes medications like midodrine and fludrocortisone, along with non-pharmacological interventions.
JOURNAL OF NEPAL MEDICAL ASSOCIATION
(2021)
Article
Peripheral Vascular Disease
Luis E. Okamoto, Jorge E. Celedonio, Emily C. Smith, Sachin Y. Paranjape, Bonnie K. Black, Amr Wahba, Jin-Woo Park, Cyndya A. Shibao, Andre Diedrich, Italo Biaggioni
Summary: We conducted two studies and found that continuous positive airway pressure (CPAP) can effectively reduce nocturnal supine hypertension in patients with autonomic failure, improve nocturia and symptoms of daytime orthostatic hypotension.
Review
Clinical Neurology
Fabian Leys, Gregor K. Wenning, Alessandra Fanciulli
Summary: The alpha-synucleinopathies are a group of adult-onset neurodegenerative disorders, including PD, MSA, DLB, and PAF. They are characterized by aggregates of misfolded alpha-synuclein in the nervous system. Differential diagnosis among these diseases can be challenging in clinical practice due to overlapping autonomic features and differences in the site of autonomic nervous system lesion.
NEUROLOGICAL SCIENCES
(2022)
Review
Cardiac & Cardiovascular Systems
Oyebimbola A. Oyewunmi, Lucy Y. Lei, Jill K. H. Laurin, Carlos A. Morillo, Robert S. Sheldon, Satish R. Raj
Summary: Rapid water intake can increase systolic and diastolic blood pressure in patients with orthostatic hypotension, with a slight decrease in heart rate. Healthy individuals also experience similar but milder effects. However, patients with postural tachycardia syndrome do not show these changes in seated or supine positions.
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2023)
Letter
Clinical Neurology
Alessandra Fanciulli, Katharina Kerer, Fabian Leys, Klaus Seppi, Horacio Kaufmann, Lucy Norcliffe-Kaufmann, Gregor K. Wenning
ANNALS OF NEUROLOGY
(2020)
Article
Clinical Neurology
Jose-Alberto Palma, Achla Gupta, Salvador Sierra, Ivone Gomes, Bhumika Balgobin, Lucy Norcliffe-Kaufmann, Lakshmi A. Devi, Horacio Kaufmann
ANNALS OF NEUROLOGY
(2020)
Article
Clinical Neurology
Chethan Ramprasad, Lucy Norcliffe-Kaufmann, Jose-Alberto Palma, Joseph Levy, Yian Zhang, Christy L. Spalink, Abraham Khan, Scott Smukalla, Horacio Kaufmann, Lea Ann Chen
Summary: Patients with familial dysautonomia (FD) exhibit higher prevalence of gastrointestinal symptoms compared to the general US adult population, but these symptoms are less severe in FD patients. Caregivers reported similar burden of symptoms as patients.
CLINICAL AUTONOMIC RESEARCH
(2021)
Editorial Material
Clinical Neurology
Horacio Kaufmann, Jens Jordan
CLINICAL AUTONOMIC RESEARCH
(2021)
Correction
Clinical Neurology
Jonathan Kfir, Mengfei Wu, Mengling Liu, Leela Raju, Joel S. Schuman, Hiroshi Ishikawa, M. Isabel Vanegas, Carlos E. Mendoza-Santiesteban, Jose-Alberto Palma, Lucy Norcliffe-Kaufmann, Barr Morgenstein, Horacio Kaufmann, Gadi Wollstein
JOURNAL OF NEUROLOGY
(2021)
Review
Clinical Neurology
Jose-Alberto Palma, Patricio Millar Vernetti, Miguel A. Perez, Florian Krismer, Klaus Seppi, Alessandra Fanciulli, Wolfgang Singer, Phillip Low, Italo Biaggioni, Lucy Norcliffe-Kaufmann, Maria Teresa Pellecchia, Maria Jose Marti, Han-Joon Kim, Marcelo Merello, Iva Stankovic, Werner Poewe, Rebecca Betensky, Gregor Wenning, Horacio Kaufmann
Summary: The UMSARS, a clinical rating scale for multiple system atrophy, has limitations in detecting changes and may lead to a ceiling effect. Due to these limitations, there is a need to develop and validate an improved COA for use in future clinical trials.
CLINICAL AUTONOMIC RESEARCH
(2021)
Article
Genetics & Heredity
Ruth Chia, Marya S. Sabir, Sara Bandres-Ciga, Sara Saez-Atienzar, Regina H. Reynolds, Emil Gustavsson, Ronald L. Walton, Sarah Ahmed, Coralie Viollet, Jinhui Ding, Mary B. Makarious, Monica Diez-Fairen, Makayla K. Portley, Zalak Shah, Yevgeniya Abramzon, Dena G. Hernandez, Cornelis Blauwendraat, David J. Stone, John Eicher, Laura Parkkinen, Olaf Ansorge, Lorraine Clark, Lawrence S. Honig, Karen Marder, Afina Lemstra, Peter St George-Hyslop, Elisabet Londos, Kevin Morgan, Tammaryn Lashley, Thomas T. Warner, Zane Jaunmuktane, Douglas Galasko, Isabel Santana, Pentti J. Tienari, Liisa Myllykangas, Minna Oinas, Nigel J. Cairns, John C. Morris, Glenda M. Halliday, Vivianna M. Van Deerlin, John Q. Trojanowski, Maurizio Grassano, Andrea Calvo, Gabriele Mora, Antonio Canosa, Gianluca Floris, Ryan C. Bohannan, Francesca Brett, Ziv Gan-Or, Joshua T. Geiger, Anni Moore, Patrick May, Rejko Kruger, David S. Goldstein, Grisel Lopez, Nahid Tayebi, Ellen Sidransky, Lucy Norcliffe-Kaufmann, Jose-Alberto Palma, Horacio Kaufmann, Vikram G. Shakkottai, Matthew Perkins, Kathy L. Newell, Thomas Gasser, Claudia Schulte, Francesco Landi, Erika Salvi, Daniele Cusi, Eliezer Masliah, Ronald C. Kim, Chad A. Caraway, Edwin S. Monuki, Maura Brunetti, Ted M. Dawson, Liana S. Rosenthal, Marilyn S. Albert, Olga Pletnikova, Juan C. Troncoso, Margaret E. Flanagan, Qinwen Mao, Eileen H. Bigio, Eloy Rodriguez-Rodriguez, Jon Infante, Carmen Lage, Isabel Gonzalez-Aramburu, Pascual Sanchez-Juan, Bernardino Ghetti, Julia Keith, Sandra E. Black, Mario Masellis, Ekaterina Rogaeva, Charles Duyckaerts, Alexis Brice, Suzanne Lesage, Georgia Xiromerisiou, Matthew J. Barrett, Bension S. Tilley, Steve Gentleman, Giancarlo Logroscino, Geidy E. Serrano, Thomas G. Beach, Ian G. McKeith, Alan J. Thomas, Johannes Attems, Christopher M. Morris, Laura Palmer, Seth Love, Claire Troakes, Safa Al-Sarraj, Angela K. Hodges, Dag Aarsland, Gregory Klein, Scott M. Kaiser, Randy Woltjer, Pau Pastor, Lynn M. Bekris, James B. Leverenz, Lilah M. Besser, Amanda Kuzma, Alan E. Renton, Alison Goate, David A. Bennett, Clemens R. Scherzer, Huw R. Morris, Raffaele Ferrari, Diego Albani, Stuart Pickering-Brown, Kelley Faber, Walter A. Kukull, Estrella Morenas-Rodriguez, Alberto Lleo, Juan Fortea, Daniel Alcolea, Jordi Clarimon, Mike A. Nalls, Luigi Ferrucci, Susan M. Resnick, Toshiko Tanaka, Tatiana M. Foroud, Neill R. Graff-Radford, Zbigniew K. Wszolek, Tanis Ferman, Bradley F. Boeve, John A. Hardy, Eric J. Topol, Ali Torkamani, Andrew B. Singleton, Mina Ryten, Dennis W. Dickson, Adriano Chio, Owen A. Ross, J. Raphael Gibbs, Clifton L. Dalgard, Bryan J. Traynor, Sonja W. Scholz
Summary: By conducting whole-genome sequencing and genetic analysis, researchers have identified common genetic risk factors and pathways shared between Lewy body dementia, Alzheimer's disease, and Parkinson's disease. This provides a deeper understanding of the complex genetic architecture of these age-related neurodegenerative conditions.
Article
Genetics & Heredity
Jose-Alberto Palma, Rachita Yadav, Dadi Gao, Lucy Norcliffe-Kaufmann, Susan Slaugenhaupt, Horacio Kaufmann
Summary: Through whole-exome sequencing in 13 patients with congenital impaired or absent sensation to pain and temperature with no identified molecular diagnosis from a conventional genetic panel, we identified known, suspected, and likely pathogenic genetic causes of congenital insensitivity to pain in all patients, expanding the genetic landscape of congenital sensory and autonomic neuropathies. Further validation of the identified variants is needed for confirmation of their pathogenicity.
NEUROLOGY-GENETICS
(2021)
Article
Clinical Neurology
Suman Dutta, Simon Hornung, Adira Kruayatidee, Katherine N. Maina, Irish del Rosario, Kimberly C. Paul, Darice Y. Wong, Aline Duarte Folle, Daniela Markovic, Jose-Alberto Palma, Geidy E. Serrano, Charles H. Adler, Susan L. Perlman, Wayne W. Poon, Un Jung Kang, Roy N. Alcalay, Miriam Sklerov, Karen H. Gylys, Horacio Kaufmann, Brent L. Fogel, Jeff M. Bronstein, Beate Ritz, Gal Bitan
Summary: The study found that measuring α-syn in exosomes from blood can effectively distinguish between patients with PD and MSA with high sensitivity and specificity. A multinomial logistic model combining α-syn concentration, exosome concentration, and a ratio between α-syn concentrations in specific exosomes showed promising results in separating PD from MSA.
ACTA NEUROPATHOLOGICA
(2021)
Editorial Material
Clinical Neurology
Wouter Wieling, Horacio Kaufmann
CLINICAL AUTONOMIC RESEARCH
(2021)
Review
Clinical Neurology
Giovanna Calandra-Buonaura, Enrico Alfonsi, Luca Vignatelli, Eduardo E. Benarroch, Giulia Giannini, Alex Iranzo, Phillip A. Low, Paolo Martinelli, Federica Provini, Niall Quinn, Eduardo Tolosa, Gregor K. Wenning, Giovanni Abbruzzese, Pamela Bower, Angelo Antonini, Kailash P. Bhatia, Jacopo Bonavita, Maria Teresa Pellecchia, Nicole Pizzorni, Francois Tison, Imad Ghorayeb, Wassilios G. Meissner, Tetsutaro Ozawa, Claudio Pacchetti, Nicolo Gabriele Pozzi, Claudio Vicini, Antonio Schindler, Pietro Cortelli, Horacio Kaufmann
Summary: Multiple system atrophy (MSA) is a neurodegenerative disorder characterized by autonomic failure, cerebellar syndrome, and/or parkinsonism. Dysphagia is a common and disabling symptom in MSA, with associations to survival rates.
PARKINSONISM & RELATED DISORDERS
(2021)
Correction
Clinical Neurology
Suman Dutta, Simon Hornung, Adira Kruayatidee, Katherine N. Maina, Irish del Rosario, Kimberly C. Paul, Darice Y. Wong, Aline Duarte Folle, Daniela Markovic, Jose-Alberto Palma, Geidy E. Serrano, Charles H. Adler, Susan L. Perlman, Wayne W. Poon, Un Jung Kang, Roy N. Alcalay, Miriam Sklerov, Karen H. Gylys, Horacio Kaufmann, Brent L. Fogel, Jeff M. Bronstein, Beate Ritz, Gal Bitan
Summary: A correction to the paper has been published.
ACTA NEUROPATHOLOGICA
(2021)
Article
Clinical Neurology
Horacio Kaufmann, Ross Vickery, Whedy Wang, Jitendra Kanodia, Cyndya A. Shibao, Lucy Norcliffe-Kaufmann, Brett Haumann, Italo Biaggioni
Summary: Ampreloxetine was found to be well tolerated and effective in improving symptoms and blood pressure in patients with neurogenic orthostatic hypotension. It significantly increased seated systolic blood pressure and alleviated symptoms of dizziness/lightheadedness, while having minimal impact on supine blood pressure. Symptoms returned to baseline levels after discontinuation of treatment.
CLINICAL AUTONOMIC RESEARCH
(2021)
Article
Medicine, General & Internal
Werner Poewe, Iva Stankovic, Glenda Halliday, Wassilios G. Meissner, Gregor K. Wenning, Maria Teresa Pellecchia, Klaus Seppi, Jose-Alberto Palma, Horacio Kaufmann
Summary: This article provides a summary of the epidemiology, diagnosis, pathophysiology, and treatment of multiple system atrophy, as well as an overview of quality of life issues and future research directions. Multiple system atrophy is a rare neurodegenerative disease characterized by neuronal loss and gliosis in multiple areas of the central nervous system. Diagnosis is challenging and current treatments are not effective, but new research progress offers hope for patients.
NATURE REVIEWS DISEASE PRIMERS
(2022)
Article
Clinical Neurology
Jonathan Kfir, Mengfei Wu, Mengling Liu, Leela Raju, Joel S. Schuman, Hiroshi Ishikawa, Isabel M. Vanegas, Carlos E. Mendoza-Santiesteban, Jose-Alberto Palma, Lucy Norcliffe-Kaufmann, Barr Morgenstein, Horacio Kaufmann, Gadi Wollstein
Summary: Objective Familial Dysautonomia (FD) disease lacks a useful biomarker for clinical monitoring. In this longitudinal study, structural changes in the macula, peripapillary, and optic nerve head (ONH) regions in subjects with FD were characterized. The rapidly declining RNFL and GCIPL can explain the progressive visual impairment, while ONH parameters may be most suitable for longitudinal follow-up in eyes with measurable cupping.
JOURNAL OF NEUROLOGY
(2021)