Susan Perlman, M.D.


Work Titles
UCLA Professor, Neurology
Education:
Degrees:
M.D., SUNY Stony Brook School of Medicine, 1975
Fellowship:
1979 - 1980 UCLA School of Medicine
Internship:
1975 - 1976 UCLA School of Medicine
Residency:
1976 - 1979 UCLA School of Medicine
Certifications:
Certifications:
1981 American Board of Psychiatry and Neurology

Contact Information:

Email Address:

sperlman@ucla.edu


Website:

Web-Profile

Mailing Address:

UCLA Neuro
BOX 956975, 1-167 RNRC
Los Angeles, CA 90095


Publications:

Fogel Brent L, Baker Cameron, Curnow Andrew, Perlman Susan L, Geschwind Daniel H, Coppola Giovanni   Mutations in PDYN are not responsible for multiple system atrophy Journal of neurology, 2013; .
Blankenberg Francis G, Kinsman Stephen L, Cohen Bruce H, Goris Michael L, Spicer Kenneth M, Perlman Susan L, Krane Elliot J, Kheifets Viktoria, Thoolen Martin, Miller Guy, Enns Gregory M   Brain uptake of Tc99m-HMPAO correlates with clinical response to the novel redox modulating agent EPI-743 in patients with mitochondrial disease Molecular genetics and metabolism, 2012; 107(4): 690-9.
Fogel Brent L, Pribadi Mochtar, Pi Sarah, Perlman Susan L, Geschwind Daniel H, Coppola Giovanni   C9ORF72 expansion is not a significant cause of sporadic spinocerebellar ataxia Movement disorders : official journal of the Movement Disorder Society, 2012; 27(14): 1835-6.
Lynch David R, Pandolfo Massimo, Schulz Jorg B, Perlman Susan, Delatycki Martin B, Payne R Mark, Shaddy Robert, Fischbeck Kenneth H, Farmer Jennifer, Kantor Paul, Raman Subha V, Hunegs Lisa, Odenkirchen Joanne, Miller Kristy, Kaufmann Petra   Common data elements for clinical research in Friedreich's ataxia Movement disorders : official journal of the Movement Disorder Society, 2012; .
Jung Brian C, Choi Soo I, Du Annie X, Cuzzocreo Jennifer L, Geng Zhuo Z, Ying Howard S, Perlman Susan L, Toga Arthur W, Prince Jerry L, Ying Sarah H   Principal component analysis of cerebellar shape on MRI separates SCA types 2 and 6 into two archetypal modes of degeneration Cerebellum (London, England), 2012; 11(4): 887-95.
Martelli Alain, Friedman Lisa S, Reutenauer Laurence, Messaddeq Nadia, Perlman Susan L, Lynch David R, Fedosov Kathrin, Schulz Jörg B, Pandolfo Massimo, Puccio Hélène   Clinical data and characterization of the liver conditional mouse model exclude neoplasia as a non-neurological manifestation associated with Friedreich's ataxia Disease models & mechanisms, 2012; 5(6): 860-9.
Perlman Susan L   A review of Friedreich ataxia clinical trial results Journal of child neurology, 2012; 27(9): 1217-22.
Ashley Claire N, Hoang Kelly D, Lynch David R, Perlman Susan L, Maria Bernard L   Childhood ataxia: clinical features, pathogenesis, key unanswered questions, and future directions Journal of child neurology, 2012; 27(9): 1095-120.
Deutsch Eric C, Seyer Lauren A, Perlman Susan L, Yu Jeanette, Lynch David R   Clinical monitoring in a patient with Friedreich ataxia and osteogenic sarcoma Journal of child neurology, 2012; 27(9): 1159-63.
Regner Sean R, Wilcox Nicholas S, Friedman Lisa S, Seyer Lauren A, Schadt Kim A, Brigatti Karlla W, Perlman Susan, Delatycki Martin, Wilmot George R, Gomez Christopher M, Bushara Khalaf O, Mathews Katherine D, Subramony S H, Ashizawa Tetsuo, Ravina Bernard, Brocht Alicia, Farmer Jennifer M, Lynch David R   Friedreich ataxia clinical outcome measures: natural history evaluation in 410 participants Journal of child neurology, 2012; 27(9): 1152-8.
Waters Michael F, Subramony Sankarasubramoney H, Advincula Joel, Perlman Susan, Ashizawa Tetsuo   Oculomotor and visual axis systems sparing in spinocerebellar ataxia type 13(R420H) Neurology, 2012; 79(11): 1181-2.
Evans-Galea Marguerite V, Carrodus Nissa, Rowley Simone M, Corben Louise A, Tai Geneieve, Saffery Richard, Galati John C, Wong Nicholas C, Craig Jeffrey M, Lynch David R, Regner Sean R, Brocht Alicia F D, Perlman Susan L, Bushara Khalaf O, Gomez Christopher M, Wilmot George R, Li Lingli, Varley Elizabeth, Delatycki Martin B, Sarsero Joseph P   FXN methylation predicts expression and clinical outcome in Friedreich ataxia Annals of neurology, 2012; 71(4): 487-97.
Jung Brian C, Choi Soo I, Du Annie X, Cuzzocreo Jennifer L, Ying Howard S, Landman Bennett A, Perlman Susan L, Baloh Robert W, Zee David S, Toga Arthur W, Prince Jerry L, Ying Sarah H   MRI shows a region-specific pattern of atrophy in spinocerebellar ataxia type 2 Cerebellum (London, England), 2012; 11(1): 272-9.
Fogel Brent L, Lee Ji Yong, Lane Jessica, Wahnich Amanda, Chan Sandy, Huang Alden, Osborn Greg E, Klein Eric, Mamah Catherine, Perlman Susan, Geschwind Daniel H, Coppola Giovanni   Mutations in rare ataxia genes are uncommon causes of sporadic cerebellar ataxia Movement disorders : official journal of the Movement Disorder Society, 2012; 27(3): 442-6.
Regner Sean R, Lagedrost Sarah J, Plappert Ted, Paulsen Erin K, Friedman Lisa S, Snyder Madeline L, Perlman Susan L, Mathews Katherine D, Wilmot George R, Schadt Kimberly A, Sutton Martin St John, Lynch David R   Analysis of echocardiograms in a large heterogeneous cohort of patients with friedreich ataxia The American journal of cardiology, 2012; 109(3): 401-5.
Meier Thomas, Perlman Susan L, Rummey Christian, Coppard Nicholas J, Lynch David R   Assessment of neurological efficacy of idebenone in pediatric patients with Friedreich's ataxia: data from a 6-month controlled study followed by a 12-month open-label extension study Journal of neurology, 2012; 259(2): 284-91.
Perlman Susan L, Boder Deceased Elena, Sedgewick Robert P, Gatti Richard A   Ataxia-telangiectasia Handbook of clinical neurology / edited by P.J. Vinken and G.W. Bruyn, 2012; 103(2): 307-32.
Perlman Susan L   Treatment and management issues in ataxic diseases Handbook of clinical neurology / edited by P.J. Vinken and G.W. Bruyn, 2012; 103(2): 635-54.
Enns Gregory M, Kinsman Stephen L, Perlman Susan L, Spicer Kenneth M, Abdenur Jose E, Cohen Bruce H, Amagata Akiko, Barnes Adam, Kheifets Viktoria, Shrader William D, Thoolen Martin, Blankenberg Francis, Miller Guy   Initial experience in the treatment of inherited mitochondrial disease with EPI-743 Molecular genetics and metabolism, 2012; 105(1): 91-102.
Coppola Giovanni, Burnett Ryan, Perlman Susan, Versano Revital, Gao Fuying, Plasterer Heather, Rai Myriam, Saccá Francesco, Filla Alessandro, Lynch David R, Rusche James R, Gottesfeld Joel M, Pandolfo Massimo, Geschwind Daniel H   A gene expression phenotype in lymphocytes from Friedreich ataxia patients Annals of neurology, 2011; 70(5): 790-804.
Burgunder Jean-Marc, Guttman Mark, Perlman Susan, Goodman Nathan, van Kammen Daniel P, Goodman Lavonne   An International Survey-based Algorithm for the Pharmacologic Treatment of Chorea in Huntington's Disease PLoS currents, 2011; 3(5): RRN1260.
Tsou Amy Y, Paulsen Erin K, Lagedrost Sarah J, Perlman Susan L, Mathews Katherine D, Wilmot George R, Ravina Bernard, Koeppen Arnulf H, Lynch David R   Mortality in Friedreich ataxia Journal of the neurological sciences, 2011; 307(1-2): 46-9.
Becker Esther B E, Fogel Brent L, Rajakulendran Sanjeev, Dulneva Anna, Hanna Michael G, Perlman Susan L, Geschwind Daniel H, Davies Kay E   Candidate screening of the TRPC3 gene in cerebellar ataxia Cerebellum (London, England), 2011; 10(2): 296-9.
Lagedrost Sarah J, Sutton Martin St John, Cohen Meryl S, Satou Gary M, Kaufman Beth D, Perlman Susan L, Rummey Christian, Meier Thomas, Lynch David R   Idebenone in Friedreich ataxia cardiomyopathy-results from a 6-month phase III study (IONIA) American heart journal, 2011; 161(3): 639-645.e1.
Perlman Susan L   Spinocerebellar degenerations Handbook of clinical neurology / edited by P.J. Vinken and G.W. Bruyn, 2011; 100(3): 113-40.
Deutsch Eric C, Santani Avni B, Perlman Susan L, Farmer Jennifer M, Stolle Catherine A, Marusich Michael F, Lynch David R   A rapid, noninvasive immunoassay for frataxin: utility in assessment of Friedreich ataxia Molecular genetics and metabolism, 2010; 101(2-3): 238-45.
Lynch David R, Perlman Susan L, Meier Thomas   A phase 3, double-blind, placebo-controlled trial of idebenone in friedreich ataxia Archives of neurology, 2010; 67(8): 941-7.
Friedman Lisa S, Farmer Jennifer M, Perlman Susan, Wilmot George, Gomez Christopher M, Bushara Khalaf O, Mathews Katherine D, Subramony S H, Ashizawa Tetsuo, Balcer Laura J, Wilson Robert B, Lynch David R   Measuring the rate of progression in Friedreich ataxia: implications for clinical trial design Movement disorders : official journal of the Movement Disorder Society, 2010; 25(4): 426-32.
Fogel Brent L, Lee Ji Yong, Perlman Susan   Aberrant splicing of the senataxin gene in a patient with ataxia with oculomotor apraxia type 2 Cerebellum (London, England), 2009; 8(4): 448-53.
Prakash Neal, Hageman Nathan, Hua Xue, Toga Arthur W, Perlman Susan L, Salamon Noriko   Patterns of fractional anisotropy changes in white matter of cerebellar peduncles distinguish spinocerebellar ataxia-1 from multiple system atrophy and other ataxia syndromes NeuroImage, 2009; 47 Suppl 2(4): T72-81.
Keene C Dirk, Chang Rubens C, Leverenz James B, Kopyov Oleg, Perlman Susan, Hevner Robert F, Born Donald E, Bird Thomas D, Montine Thomas J   A patient with Huntington's disease and long-surviving fetal neural transplants that developed mass lesions Acta neuropathologica, 2009; 117(3): 329-38.
Epstein Elizabeth, Farmer Jennifer M, Tsou Amy, Perlman Susan, Subramony S H, Gomez Christopher M, Ashizawa Tetsuo, Wilmot George R, Mathews Katherine, Wilson Robert B, Balcer Laura J, Lynch David R   Health related quality of life measures in Friedreich Ataxia Journal of the neurological sciences, 2008; 272(1-2): 123-8.
Fogel Brent L, Young Pari, Thompson Arthur R, Perlman Susan   A family with combined mutations of the hemophilia A and X-linked adrenoleukodystrophy genes Neurogenetics, 2008; 9(3): 215-8.
Myers Lauren, Farmer Jennifer M, Wilson Robert B, Friedman Lisa, Tsou Amy, Perlman Susan L, Subramony Sub H, Gomez Christopher M, Ashizawa Tetsuo, Wilmot George R, Mathews Katherine D, Balcer Laura J, Lynch David R   Antioxidant use in Friedreich ataxia Journal of the neurological sciences, 2008; 267(1-2): 174-6.
Bhidayasiri Roongroj, Perlman Susan   Medical image. "Hot cross bun" sign The New Zealand medical journal, 2007; 120(1255): U2563.
Bartzokis George, Lu Po H, Tishler Todd A, Fong Sophia M, Oluwadara Bolanle, Finn J Paul, Huang Danny, Bordelon Yvette, Mintz Jim, Perlman Susan   Myelin breakdown and iron changes in Huntington's disease: pathogenesis and treatment implications Neurochemical research, 2007; 32(10): 1655-64.
Fogel Brent L, Perlman Susan   Clinical features and molecular genetics of autosomal recessive cerebellar ataxias Lancet neurology, 2007; 6(3): 245-57.
Fogel Brent L, Perlman Susan   Novel mutations in the senataxin DNA/RNA helicase domain in ataxia with oculomotor apraxia 2 Neurology, 2006; 67(11): 2083-4.
Fogel Brent L, Perlman Susan   An approach to the patient with late-onset cerebellar ataxia Nature clinical practice. Neurology, 2006; 2(11): 629-35; quiz 1 p following 635.
Perlman Susan L   Ataxias Clinics in geriatric medicine, 2006; 22(4): 859-77, vii.
McMurtray Aaron M, Clark David G, Flood Mary K, Perlman Susan, Mendez Mario F   Depressive and memory symptoms as presenting features of spinocerebellar ataxia The Journal of neuropsychiatry and clinical neurosciences, 2006; 18(3): 420-2.
Li Jian-Liang, Hayden Michael R, Warby Simon C, Durr Alexandra, Morrison Patrick J, Nance Martha, Ross Christopher A, Margolis Russell L, Rosenblatt Adam, Squitieri Ferdinando, Frati Luigi, Gómez-Tortosa Estrella, García Carmen Ayuso, Suchowersky Oksana, Klimek Mary Lou, Trent Ronald J A, McCusker Elizabeth, Novelletto Andrea, Frontali Marina, Paulsen Jane S, Jones Randi, Ashizawa Tetsuo, Lazzarini Alice, Wheeler Vanessa C, Prakash Ranjana, Xu Gang, Djoussé Luc, Mysore Jayalakshmi Srinidhi, Gillis Tammy, Hakky Michael, Cupples L Adrienne, Saint-Hilaire Marie H, Cha Jang-Ho J, Hersch Steven M, Penney John B, Harrison Madaline B, Perlman Susan L, Zanko Andrea, Abramson Ruth K, Lechich Anthony J, Duckett Ayana, Marder Karen, Conneally P Michael, Gusella James F, MacDonald Marcy E, Myers Richard H   Genome-wide significance for a modifier of age at neurological onset in Huntington's disease at 6q23-24: the HD MAPS study BMC medical genetics, 2006; 7(10): 71.
Herman David, Jenssen Kai, Burnett Ryan, Soragni Elisabetta, Perlman Susan L, Gottesfeld Joel M   Histone deacetylase inhibitors reverse gene silencing in Friedreich's ataxia Nature chemical biology, 2006; 2(10): 551-8.
Bhidayasiri Roongroj, Perlman Susan L, Pulst Stefan-M, Geschwind Daniel H   Late-onset Friedreich ataxia: phenotypic analysis, magnetic resonance imaging findings, and review of the literature Archives of neurology, 2005; 62(12): 1865-9.
Maschke Matthias, Oehlert Gary, Xie Ting-Dong, Perlman Susan, Subramony Sub H, Kumar Neeraj, Ptacek Louis J, Gomez Christopher M   Clinical feature profile of spinocerebellar ataxia type 1-8 predicts genetically defined subtypes Movement disorders : official journal of the Movement Disorder Society, 2005; 20(11): 1405-12.
Kerber Kevin A, Jen Joanna C, Perlman Susan, Baloh Robert W   Late-onset pure cerebellar ataxia: differentiating those with and without identifiable mutations Journal of the neurological sciences, 2005; 238(1-2): 41-5.
Perlman Susan L   Symptomatic and disease-modifying therapy for the progressive ataxias The neurologist, 2004; 10(5): 275-89.
Perlman Susan L   Spinocerebellar degeneration Expert opinion on pharmacotherapy, 2003; 4(10): 1637-41.
Perlman Susan, Becker-Catania Sara, Gatti Richard A   Ataxia-telangiectasia: diagnosis and treatment Seminars in pediatric neurology, 2003; 10(3): 173-82.
Perlman Susan L   Late-onset Tay-Sachs disease as a Friedreich ataxia phenocopy Archives of neurology, 2002; 59(11): 1832; author reply 1832.
Perlman Susan L   Spinocerebellar degenerations: an update Current neurology and neuroscience reports, 2002; 2(4): 331-41.

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