Back to Authors

Kaufmann, Horacio

0000-0002-1851-9981

Mayo Clinic

New York University

Citations 27

Cerebellar and parkinsonian phenotypes of multiple system atrophy: differences and similarities at baseline from the Natural History Study of the Synucleinopathies (5054)
Fanciulli, Alessandra , Low, Phillip A. , Shibao, Cyndya A. , Martı́, Marı́a José , Norcliffe‐Kaufmann, Lucy , Millar Vernetti, Patricio , Palma, Jose-Alberto , Fanciulli, Alessandra , Krismer, Florian , Singer, Wolfgang , Pellecchia, Maria Teresa , Kim, Han‐Joon , Shibao, Cyndya A , Peltier, Amanda , Biaggioni, Italo , Terroba‐Chambi, Cinthia , Merello, Marcelo , Goldstein, David S. , Freeman, Roy L. , Gibbons, Christopher H. , Vernino, Steven , Wenning, Gregor K. , Kaufmann, Horacio

Neurology | December 7, 2023 | Volume: 94 | Issue: 15_supplement | Pages: No page available

10.1212/wnl.94.15_supplement.5054 Get It

Differences and Similarities Between the Parkinsonian Variant of Multiple System Atrophy and Parkinson Disease in the Natural History Study of the Synucleinopathies (4795)
Fanciulli, Alessandra , Low, Phillip A. , Shibao, Cyndya A. , Martı́, Marı́a José , Norcliffe‐Kaufmann, Lucy , Millar Vernetti, Patricio , Palma, Jose-Alberto , Fanciulli, Alessandra , Krismer, Florian , Singer, Wolfgang , Pellecchia, Maria Teresa , Kim, Han‐Joon , Shibao, Cyndya A , Peltier, Amanda , Biaggioni, Italo , Terroba‐Chambi, Cinthia , Merello, Marcelo , Goldstein, David S. , Freeman, Roy L. , Gibbons, Christopher H. , Vernino, Steven , Wenning, Gregor K. , Kaufmann, Horacio

Neurology | December 7, 2023 | Volume: 94 | Issue: 15_supplement | Pages: No page available

10.1212/wnl.94.15_supplement.4795 Get It

Patients with transthyretin amyloidosis enrolled in THAOS between 2018 and 2021 continue to experience substantial diagnostic delay
Coelho, Teresa , Grogan, Martha , Conceição, Isabel , Kristen, Arnt V. , Wixner, Jonas , González‐Moreno, Juan , Maurer, Mathew S. , García‐Pavía, Pablo , Tournev, Ivailo , González‐Costello, José , Cariou, Eve, Glass, Oliver, Chapman, Doug, Amass, Leslie, investigators, on behalf of the THAOS, Hüsing‐Kabar, Anna, Drachman, Brian, Sekijima, Yoshiki , Jeon, Eun‐Seok , Slosky, David, Hanna, Mazen , Freimer, Miriam , Muñoz-Beamud, Francisco, Mølgaard, Henning, Press, Rayomand , Cirami, Calogero Lino , Plana, Josep Maria Campistol, Inamo, Jocelyn , Quan, Dianna , Dori, Amir , Murali, Srinivas, Živković, Saša , Correia, Edileide de Barros , Nicolau, José Nativi, Tallaj, José , Fernández‐Torrón, Roberto , Polydefkis, Michael , Tauras, James M. , Ventura, Hector, Brunkhorst, Robert, Darstein, Felix , Marburger, Tessa, Mueller, Christopher R. , Cleemput, Johan Van , Parman, Yeşim , Sarswat, N., Warner, Alberta L. , Steidley, D. Eric , Ralph, Jeffrey , Cotts, William, Hoffman, James E. , Rugiero, Marcelo, Misawa, Sonoko , Muñoz-Blanco, José Luís , Dávila, Lucía Galán, Sadeh, Menachem , Luo, Jin, Kyriakides, Theodoros , Wang, Annabel , Dispenzieri, Angela , Conceição, Isabel , Garcia-Pavia, Pablo , Dispenzieri, Angela , Waddington‐Cruz, Márcia , Diemberger, Igor , Maurer, Mathew S , Planté‐Bordeneuve, Violaine , González-Duarte, Alejandra , investigators, on behalf of the THAOS, Barroso, Fábio , Ueda, Mitsuharu , Mazzeo, Anna Teresa , Gentile, Luca , Luigetti, Marco , Adams, David , Nienhuis, Hans L. A. , Emdin, Michele , Miller, Edward J. , Hummel, Scott L. , Witteles, Ronald , Shah, Sanjiv J , Lenihan, Daniel , Azevedo, Olga , Tan, Cheng‐Yin , Fine, Nowell Mark , Tschöpe, Carsten , Obici, Laura , BADELITA, Sorina Nicoleta , Gottlieb, Stephen S. , Oh, Jeeyoung , Mueller, Christopher, Salutto, Valeria , Chao, Chi‐Chao , Kaufmann, Horacio

Amyloid | July 17, 2023 | Volume: 30 | Issue: 4 | Pages: 445-448

10.1080/13506129.2023.2229484 Get It

Patient Concept Elicitation Interviews: Insights into Multiple System Atrophy (MSA) Patient Experiences and Relevance of a modified United Multiple System Atrophy Rating Scale (P8-9.003)
Potashman, Michele , Huang, Isabella , Durham, Susan, Wirtz, Victoria, L’Italien, Gilbert , Coric, Vladimir, Palma, Andrea De , Brion, Triza , Low, Phillip A. , Qureshi, Irfan , Huang, Isabella, Durham, Susan, Höglinger, Günter U. , Kaufmann, Horacio , McFarland, Nikolaus R. , Meissner, Wassilios G. , Millar Vernetti, Patricio , Morris, Huw R. , Poewe, Werner H , Seppi, Klaus , Singer, Wolfgang , Vernino, Steven

Neurology | April 28, 2023 | Volume: 100 | Issue: 17_supplement_2 | Pages: No page available

10.1212/wnl.0000000000202288 Get It

Psychometric Validation of a Modified United Multiple System Atrophy Rating Scale (S43.002)
Potashman, Michele , Brady, Lila, Durham, Susan, Wirtz, Victoria, L’Italien, Gilbert , Coric, Vladimir, Low, Phillip A. , Qureshi, Irfan , Durham, Susan, Höglinger, Günter U. , Kaufmann, Horacio , McFarland, Nikolaus R. , Meissner, Wassilios G. , Millar Vernetti, Patricio , Morris, Huw R. , Poewe, Werner H , Seppi, Klaus , Singer, Wolfgang , Vernino, Steven

Neurology | April 28, 2023 | Volume: 100 | Issue: 17_supplement_2 | Pages: No page available

10.1212/wnl.0000000000202223 Get It

The Movement Disorder Society Criteria for the Diagnosis of Multiple System Atrophy
Stanković, Iva , Vignatelli, Luca , Fanciulli, Alessandra , Calandra–Buonaura, Giovanna , Seppi, Klaus , Palma, Jose‐Alberto , Meissner, Wassilios G. , Krismer, Florian , Berg, Daniela , Halliday, Glenda M. , Ling, Helen , Low, Phillip A. , Panicker, Jalesh N. , Pellecchia, Maria Teresa , Quinn, Niall , Stamelou, María , Tolosa, Eduardo , Warner, Tom, Stankovic, Iva , Vignatelli, Luca , Fanciulli, Alessandra , Seppi, Klaus , Palma, Jose-Alberto , Meissner, Wassilios G , Krismer, Florian , Cortelli, Pietro , Halliday, Glenda , Höglinger, Günter U , Ling, Helen , Sakakibara, Ryuji , Stamelou, Maria , Kaufmann, Horacio , Pellecchia, Maria Teresa , Wenning, Gregor K. , Cortelli, Pietro , Freeman, Roy L. , Höglinger, Günter U. , Lang, Anthony E. , Litvan, Irene , Miki, Yasuo , Sakakibara, Ryuji , Tsuji, Shoji , Warner, Tom, Poewe, Werner H

Movement Disorders | April 21, 2022 | Volume: 37 | Issue: 6 | Pages: 1131-1148

10.1002/mds.29005 Get It

ABSTRACT Background The second consensus criteria for the diagnosis of multiple system atrophy (MSA) are widely recognized as the reference standard for clinical research, but lack sensitivity to diagnose the disease at early stages. Objective To develop novel Movement Disorder Society (MDS) criteria for MSA diagnosis using an evidence‐based and consensus‐based methodology. Methods We identified shortcomings of the second consensus criteria for MSA diagnosis and conducted a systematic literature review to answer predefined questions on clinical presentation and diagnostic tools relevant for MSA diagnosis. The criteria were developed and later optimized using two Delphi rounds within the MSA Criteria Revision Task Force, a survey for MDS membership, and a virtual Consensus Conference. Results The criteria for neuropathologically established MSA remain unchanged. For a clinical MSA diagnosis a new category of clinically established MSA is introduced, aiming for maximum specificity with acceptable sensitivity. A category of clinically probable MSA is defined to enhance sensitivity while maintaining specificity. A research category of possible prodromal MSA is designed to capture patients in the earliest stages when symptoms and signs are present, but do not meet the threshold for clinically established or clinically probable MSA. Brain magnetic resonance imaging markers suggestive of MSA are required for the diagnosis of clinically established MSA. The number of research biomarkers that support all clinical diagnostic categories will likely grow. Conclusions This set of MDS MSA diagnostic criteria aims at improving the diagnostic accuracy, particularly in early disease stages. It requires validation in a prospective clinical and a clinicopathological study. © 2022 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society
Orthostatic heart rate changes in patients with autonomic failure caused by neurodegenerative synucleinopathies
Norcliffe‐Kaufmann, Lucy , Kaufmann, Horacio , Palma, Jose‐Alberto , Shibao, Cyndya A. , Low, Phillip A. , Robertson, David, Kaufmann, Horacio , Palma, Jose-Alberto , Shibao, Cyndya A , Biaggioni, Italo , Peltier, Amanda , Singer, Wolfgang , Goldstein, David S. , Gibbons, Christopher H. , Freeman, Roy L.

Annals of Neurology | February 5, 2018 | Volume: 83 | Issue: 3 | Pages: 522-531

10.1002/ana.25170 Get It

Objective Blunted tachycardia during hypotension is a characteristic feature of patients with autonomic failure, but the range has not been defined. This study reports the range of orthostatic heart rate (HR) changes in patients with autonomic failure caused by neurodegenerative synucleinopathies. Methods Patients evaluated at sites of the U.S. Autonomic Consortium (NCT01799915) underwent standardized autonomic function tests and full neurological evaluation. Results We identified 402 patients with orthostatic hypotension (OH) who had normal sinus rhythm. Of these, 378 had impaired sympathetic activation (ie, neurogenic OH) and based on their neurological examination were diagnosed with Parkinson disease, dementia with Lewy bodies, pure autonomic failure, or multiple system atrophy. The remaining 24 patients had preserved sympathetic activation and their OH was classified as nonneurogenic, due to volume depletion, anemia, or polypharmacy. Patients with neurogenic OH had twice the fall in systolic blood pressure (SBP; −44 ± 25 vs −21 ± 14 mmHg [mean ± standard deviation], p < 0.0001) but only one‐third of the increase in HR of those with nonneurogenic OH (8 ± 8 vs 25 ± 11 beats per minute [bpm], p < 0.0001). A ΔHR/ΔSBP ratio of 0.492 bpm/mmHg had excellent sensitivity (91.3%) and specificity (88.4%) to distinguish between patients with neurogenic from nonneurogenic OH (area under the curve = 0.96, p < 0.0001). Within patients with neurogenic OH, HR increased more in those with multiple system atrophy ( p = 0.0003), but there was considerable overlap with patients with Lewy body disorders. Interpretation A blunted HR increase during hypotension suggests a neurogenic cause. A ΔHR/ΔSBP ratio < 0.5 bpm/mmHg is diagnostic of neurogenic OH. Ann Neurol 2018;83:522–531