SusanLeePerlmanMD

Neurology • Los Angeles, CA

Movement Disorder, Neurodegenerative, Neurodevelopmental Disabilities

Professor, Neurology, UCLA School of Medicine

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Office
UCLA Medical Center
300 Medical Plaza, Suite B 200
Los Angeles, CA 90095
Phone+1 310-794-1195

Fax+1 310-794-1195
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Education & Training

UCLA David Geffen School of Medicine/UCLA Medical CenterResidency, Neurology, 1976 - 1979
UCLA David Geffen School of Medicine/UCLA Medical CenterInternship, Internal Medicine, 1975 - 1976
Stony Brook University Health Sciences Center School of MedicineClass of 1975

Certifications & Licensure

CA State Medical License 1976 - 2024
American Board of Psychiatry and Neurology Neurology

Awards, Honors, & Recognition

Super Doctor SuperDoctors.com

Clinical Trials

Neurobiological Predictors of Huntington's Disease (PREDICT-HD) Start of enrollment: 2002 Aug 01
Active, not recruiting
Study to Assess the Efficacy, Safety and Tolerability of Idebenone in the Treatment of Friedreich's Ataxia Start of enrollment: 2007 Dec 01
Completed
Phase 3
Study to Assess the Safety and Tolerability of Idebenone in the Treatment of Friedreich's Ataxia Patients Start of enrollment: 2008 Jul 01
Completed
Phase 3
Natural History Study of and Genetic Modifiers in Spinocerebellar Ataxias Start of enrollment: 2010 Apr 01
Recruiting
Enroll -HD: A Prospective Registry Study in a Global Huntington's Disease Cohort Start of enrollment: 2012 Jul 01
Recruiting
FA Clinical Outcome Measures Start of enrollment: 2001 Jan 01
Recruiting
Neurology Measures in FA Children Start of enrollment: 2017 Nov 20
Completed
Instrumented Data Exchange for Ataxia Study Start of enrollment: 2019 Jun 01
Active, not recruiting
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Publications & Presentations

PubMed

Evaluating mFARS in pediatric Friedreich's ataxia: Insights from the FACHILD study.
Christian Rummey, Sub H Subramony, Jennifer Farmer, Susan Perlman, David R Lynch> ;Annals of Clinical and Translational Neurology. 2024 Mar 31
Standing Balance Conditions and Digital Sway Measures for Clinical Trials of Friedreich's Ataxia.
Hannah L Casey, Vrutangkumar V Shah, Daniel Muzyka, James McNames, Mahmoud El-Gohary, Kristen Sowalsky, Delaram Safarpour, Patricia Carlson-Kuhta, Jeremy D Schmahmann,...> ;Movement Disorders. 2024 Mar 12
Characterization of Cardiac-Onset Initial Presentation in Friedreich Ataxia.
David R Lynch, Sub Subramony, Kimberly Y Lin, Katherine Mathews, Susan Perlman, Grace Yoon, Christian Rummey> ;Pediatric Cardiology. 2024 Mar 1
Fatigue Impacts Quality of Life in People with Spinocerebellar Ataxias.
Ruo-Yah Lai, Christian Rummey, Christian J Amlang, Chi-Ying R Lin, Tiffany X Chen, Susan Perlman, George Wilmot, Christopher M Gomez, Jeremy D Schmahmann, Henry Paulso...> ;Movement Disorders Clinical Practice. 2024 Feb 29
1 citations
Digital Measures of Postural Sway Quantify Balance Deficits in Spinocerebellar Ataxia.
Shah, V., Muzyka, D., Jagodinsky, A., McNames, J., Casey, H., El-Gohary, M., Sowalsky, K., Carlson-Kuhta, P., Horak, F., Safarpour, D., Schmahmann, J., Rosenthal, L., ...> ;Movement Disorders. 2024 Feb 15
Omaveloxolone for the treatment of Friedreich ataxia: clinical trial results and practical considerations.
Schadt, K., Lynch, D., Perlman, S.> ;Expert Review of Neurotherapeutics. 2024 Mar 1
The Cerebellar Cognitive Affective/Schmahmann Syndrome Scale in Spinocerebellar Ataxias.
Selvadurai, L., Perlman, S., Ashizawa, T., Wilmot, G., Onyike, C., Rosenthal, L., Shakkottai, V., Paulson, H., Subramony, S., Bushara, K., Kuo, S., Dietiker, C., Gesch...> ;Cerebellum. 2024 Jan 2
Frataxin analysis using triple quadrupole mass spectrometry: application to a large heterogeneous clinical cohort.
David R Lynch, Teerapat Rojsajjakul, S H Subramony, Susan L Perlman, Medina Keita, Clementina Mesaros, Ian A Blair> ;Journal of Neurology. 2024 Apr 1
2 citations
Propensity matched comparison of omaveloxolone treatment to Friedreich ataxia natural history data.
David R Lynch, Angie Goldsberry, Christian Rummey, Jennifer Farmer, Sylvia Boesch, Martin B Delatycki, Paola Giunti, J Chad Hoyle, Caterina Mariotti, Katherine D Mathe...> ;Annals of Clinical and Translational Neurology. 2024 Jan 1
1 citations
Development of cancer surveillance guidelines in ataxia telangiectasia: A Delphi-based consensus survey of international experts.
Renata Neves, Blanca De Dios Perez, Rafal Panek, Sumit Jagani, Sophie Wilne, Jayesh M Bhatt, Caterina Caputi, Emilia Cirillo, David J Coman, Gregor Dückers, Donald L G...> ;Cancer Medicine. 2023 Jul 1
2 citations
Baseline Clinical and Blood Biomarkers in Patients With Preataxic and Early-Stage Disease Spinocerebellar Ataxia 1 and 3.
Sophie Tezenas du Montcel, Emilien Petit, Titilayo Olubajo, Jennifer Faber, Pauline Lallemant-Dudek, Khalaf Bushara, Susan Perlman, Sub H Subramony, David Morgan, Bria...> ;Neurology. 2023 Apr 25
3 citations
Double blind trial of a deuterated form of linoleic acid (RT001) in Friedreich ataxia.
David R Lynch, Katherine D Mathews, Susan Perlman, Theresa Zesiewicz, Sub Subramony, Omid Omidvar, Adam P Vogel, Ana Krtolica, Nadia Litterman, Lex van der Ploeg, Fred...> ;Journal of Neurology. 2023 Mar 1
2 citations
Efficacy and Safety of N-Acetyl-l-Leucine in Children and Adults With GM2 Gangliosidoses.
Kyriakos Martakis, Jens Claassen, Jordi Gascon-Bayari, Nicolina Goldschagg, Andreas Hahn, Anhar Hassan, Anita Hennig, Simon Jones, Richard Kay, Heather Lau, Susan Perl...> ;Neurology. 2023 Mar 7
21 citations
Efficacy of Omaveloxolone in Friedreich's Ataxia: Delayed-Start Analysis of the MOXIe Extension.
David R Lynch, Melanie P Chin, Sylvia Boesch, Martin B Delatycki, Paola Giunti, Angie Goldsberry, J Chad Hoyle, Caterina Mariotti, Katherine D Mathews, Wolfgang Nachba...> ;Movement Disorders. 2023 Feb 1
12 citations
The Unified Multiple System Atrophy Rating Scale: Status, Critique, and Recommendations.
Florian Krismer, Jose-Alberto Palma, Giovanna Calandra-Buonaura, Iva Stankovic, Luca Vignatelli, Anna-Karin Berger, Cristian Falup-Pecurariu, Alexandra Foubert-Samier,...> ;Movement Disorders. 2022 Dec 1
4 citations
The S-Factor, a New Measure of Disease Severity in Spinocerebellar Ataxia: Findings and Implications.
Louisa P Selvadurai, Susan L Perlman, George R Wilmot, Sub H Subramony, Christopher M Gomez, Tetsuo Ashizawa, Henry L Paulson, Chiadi U Onyike, Liana S Rosenthal, Hari...> ;Cerebellum. 2023 Oct 1
12 citations
Natural History of Friedreich Ataxia: Heterogeneity of Neurologic Progression and Consequences for Clinical Trial Design.
Christian Rummey, Louise A Corben, Martin Delatycki, George Wilmot, Sub H Subramony, Manuela Corti, Khalaf Bushara, Antoine Duquette, Christopher Gomez, J Chad Hoyle, ...> ;Neurology. 2022 Oct 3
2 citations
Emerging Subspecialties in Neurology: A Career as a Clinical Trialist in Neurology.
Katherine A Fu, Jeffrey L Saver, Susan Perlman> ;Neurology. 2022 May 31
2 citations
A non-synonymous single nucleotide polymorphism inpredicts neurological severity in Friedreich ataxia.
Layne N Rodden, Christian Rummey, Yi Na Dong, Sarah Lagedrost, Sean Regner, Alicia Brocht, Khalaf Bushara, Martin B Delatycki, Christopher M Gomez, Katherine Mathews, ...> ;Frontiers in Molecular Biosciences. 2022 Jan 1
2 citations
Body Mass Index and Height in the Friedreich Ataxia Clinical Outcome Measures Study.
Maya Patel, Ashley McCormick, Jaclyn Tamaroff, Julia Dunn, Jonathan A. Mitchell, Kimberly Y. Lin, Jennifer M. Farmer, Christian Rummey, Susan Perlman, Martin B. Delaty...> ;Neurology. Genetics. 2021 Nov 12
63 citations
α-Synuclein in blood exosomes immunoprecipitated using neuronal and oligodendroglial markers distinguishes Parkinson's disease from multiple system atrophy.
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...> ;Acta Neuropathologica. 2021 Sep 1
21 citations
Gait Variability in Spinocerebellar Ataxia Assessed Using Wearable Inertial Sensors
Vrutangkumar V. Shah, Roberto Rodríguez-Labrada, Fay B. Horak, James McNames, Hannah L Casey, Kyra Hansson Floyd, Mahmoud El-Gohary, Jeremy D. Schmahmann, Liana S. Ros...> ;Movement Disorders. 2021 Aug 23
8 citations
Scoliosis in Friedreich's ataxia: longitudinal characterization in a large heterogeneous cohort.
Christian Rummey, John M. Flynn, Louise A. Corben, Martin B. Delatycki, George Wilmot, S. H. Subramony, Khalaf Bushara, Antoine Duquette, Christopher M. Gomez, J. Chad...> ;Annals of Clinical and Translational Neurology. 2021 May 5
97 citations
Safety and Efficacy of Omaveloxolone in Friedreich Ataxia (MOXIe Study).
David A. Lynch, Melanie P. Chin, Martin B. Delatycki, S. H. Subramony, Manuela Corti, J. Chad Hoyle, Sylvia Boesch, Wolfgang Nachbauer, Caterina Mariotti, Katherine D....> ;Annals of Neurology. 2021 Feb 1
4 citations
Correction to: α-Synuclein in blood exosomes immunoprecipitated using neuronal and oligodendroglial markers distinguishes Parkinson’s disease from multiple system atro...
Suman Dutta, Simon Hornung, Adira Kruayatidee, Katherine N. Maina, Irish Del Rosario, Kimberly C. Paul, Darice Y. Wong, Aline Duarte Folle, Daniela Markovic, Jose-Albe...> ;Acta Neuropathologica. 2021 Jan 1
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Press Mentions

Skyclarys (Omaveloxolone) Becomes the First FDA-Approved Treatment for Friedreich’s AtaxiaMarch 10th, 2023
FDA Approves SkyclarysJanuary 3rd, 2023
Design Therapeutics Reports Positive Data from Single-Ascending Dose Trial of DT-216 for the Treatment of Friedreich Ataxia and Portfolio ProgressDecember 8th, 2022
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