Susan L Perlman

Summary

Affiliation: University of California
Country: USA

Publications

  1. ncbi request reprint Spinocerebellar degenerations: an update
    Susan L Perlman
    Department of Neurology, UCLA School of Medicine, 300 UCLA Medical Plaza, Suite B200, Los Angeles, CA 90095, USA
    Curr Neurol Neurosci Rep 2:331-41. 2002
  2. ncbi request reprint Ataxias
    Susan L Perlman
    Division of Neurogenetics, Department of Neurology, David Geffen School of Medicine at University of California, Los Angeles, 300 UCLA Medical Plaza, Suite B200, Los Angeles, CA 90095, USA
    Clin Geriatr Med 22:859-77, vii. 2006
  3. doi request reprint A review of Friedreich ataxia clinical trial results
    Susan L Perlman
    Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA
    J Child Neurol 27:1217-22. 2012
  4. pmc Genome-wide significance for a modifier of age at neurological onset in Huntington's disease at 6q23-24: the HD MAPS study
    Jian Liang Li
    Department of Neurology, Boston University School of Medicine, Boston, MA, USA
    BMC Med Genet 7:71. 2006
  5. doi request reprint Spinocerebellar degenerations
    Susan L Perlman
    David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, USA
    Handb Clin Neurol 100:113-40. 2011
  6. ncbi request reprint Symptomatic and disease-modifying therapy for the progressive ataxias
    Susan L Perlman
    David Geffen School of Medicine at the University of California, Los Angeles 90095, USA
    Neurologist 10:275-89. 2004
  7. doi request reprint Principal component analysis of cerebellar shape on MRI separates SCA types 2 and 6 into two archetypal modes of degeneration
    Brian C Jung
    Department of Neurology, The Johns Hopkins University, School of Medicine, Baltimore, MD, 21287, USA
    Cerebellum 11:887-95. 2012
  8. doi request reprint Analysis of echocardiograms in a large heterogeneous cohort of patients with friedreich ataxia
    Sean R Regner
    Department of Neurology, University of Pennsylvania, Medical School, Philadelphia, Pennsylvania, USA
    Am J Cardiol 109:401-5. 2012
  9. doi request reprint Mortality in Friedreich ataxia
    Amy Y Tsou
    Department of Neurology, University of Pennsylvania Medical School, USA
    J Neurol Sci 307:46-9. 2011
  10. pmc Antioxidant use in Friedreich ataxia
    Lauren Myers
    Department of Neurology, University of Pennsylvania School of Medicine, USA
    J Neurol Sci 267:174-6. 2008

Collaborators

Detail Information

Publications16

  1. ncbi request reprint Spinocerebellar degenerations: an update
    Susan L Perlman
    Department of Neurology, UCLA School of Medicine, 300 UCLA Medical Plaza, Suite B200, Los Angeles, CA 90095, USA
    Curr Neurol Neurosci Rep 2:331-41. 2002
    ..Management strategies remain symptomatic and focused on rehabilitation, with empirical use of antioxidants based on research in other neurogenetic diseases...
  2. ncbi request reprint Ataxias
    Susan L Perlman
    Division of Neurogenetics, Department of Neurology, David Geffen School of Medicine at University of California, Los Angeles, 300 UCLA Medical Plaza, Suite B200, Los Angeles, CA 90095, USA
    Clin Geriatr Med 22:859-77, vii. 2006
    ..Correctly identifying them can improve clinicians' ability to offer treatment and management strategies to patients and their families. The goals should be safe mobility and preserved activities of daily living...
  3. doi request reprint A review of Friedreich ataxia clinical trial results
    Susan L Perlman
    Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA
    J Child Neurol 27:1217-22. 2012
    ..Despite this vigorous international effort, there is as yet no proven disease-modifying therapy for Friedreich ataxia...
  4. pmc Genome-wide significance for a modifier of age at neurological onset in Huntington's disease at 6q23-24: the HD MAPS study
    Jian Liang Li
    Department of Neurology, Boston University School of Medicine, Boston, MA, USA
    BMC Med Genet 7:71. 2006
    ....
  5. doi request reprint Spinocerebellar degenerations
    Susan L Perlman
    David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, USA
    Handb Clin Neurol 100:113-40. 2011
    ..Some testing should be done even in individuals with a confirmed genetic cause, as the presence of a secondary factor (nutritional deficiency, thyroid dysfunction) can contribute to the phenotype...
  6. ncbi request reprint Symptomatic and disease-modifying therapy for the progressive ataxias
    Susan L Perlman
    David Geffen School of Medicine at the University of California, Los Angeles 90095, USA
    Neurologist 10:275-89. 2004
    ..Some will have treatable causes, but for most, the pathophysiology is incompletely known...
  7. doi request reprint Principal component analysis of cerebellar shape on MRI separates SCA types 2 and 6 into two archetypal modes of degeneration
    Brian C Jung
    Department of Neurology, The Johns Hopkins University, School of Medicine, Baltimore, MD, 21287, USA
    Cerebellum 11:887-95. 2012
    ..Our findings further suggest that magnetic resonance imaging is a promising imaging biomarker that could aid in the diagnosis and therapeutic management in patients with cerebellar syndromes...
  8. doi request reprint Analysis of echocardiograms in a large heterogeneous cohort of patients with friedreich ataxia
    Sean R Regner
    Department of Neurology, University of Pennsylvania, Medical School, Philadelphia, Pennsylvania, USA
    Am J Cardiol 109:401-5. 2012
    ....
  9. doi request reprint Mortality in Friedreich ataxia
    Amy Y Tsou
    Department of Neurology, University of Pennsylvania Medical School, USA
    J Neurol Sci 307:46-9. 2011
    ..Although cardiac dysfunction is widely accepted as the most common cause of mortality in Friedreich ataxia (FRDA), no studies have evaluated this since the advent of specific clinical and genetic diagnostic criteria...
  10. pmc Antioxidant use in Friedreich ataxia
    Lauren Myers
    Department of Neurology, University of Pennsylvania School of Medicine, USA
    J Neurol Sci 267:174-6. 2008
    ..This confirms that non-prescription antioxidant use represents a major confounder to formal trials of existing and novel agents for Friedreich ataxia...
  11. doi request reprint Idebenone in Friedreich ataxia cardiomyopathy-results from a 6-month phase III study (IONIA)
    Sarah J Lagedrost
    Department of Neurology, University of Pennsylvania School of Medicine, Philadelphia, USA
    Am Heart J 161:639-645.e1. 2011
    ..In this 6-month randomized, double-blind, controlled study, we sought to determine whether idebenone improves cardiac measures in FRDA...
  12. ncbi request reprint Late-onset Friedreich ataxia: phenotypic analysis, magnetic resonance imaging findings, and review of the literature
    Roongroj Bhidayasiri
    Department of Neurology, UCLA Medical Center, Los Angeles, Calif, USA
    Arch Neurol 62:1865-9. 2005
    ..Late-onset FA (LOFA) is defined as onset after age 25 years...
  13. pmc MRI shows a region-specific pattern of atrophy in spinocerebellar ataxia type 2
    Brian C Jung
    Department of Neurology, The Johns Hopkins University, School of Medicine, Baltimore, MD 21287, USA
    Cerebellum 11:272-9. 2012
    ..Our findings further suggest that volumetric analysis may aid in the development of a non-invasive, quantitative biomarker...
  14. ncbi request reprint Spinocerebellar degeneration
    Susan L Perlman
    Expert Opin Pharmacother 4:1637-41. 2003
    ..There are, as yet, no FDA-approved drugs for SCA. Current treatment practices encompass rehabilitation interventions and off-label use of symptomatic medications [1,2]...
  15. ncbi request reprint Histone deacetylase inhibitors reverse gene silencing in Friedreich's ataxia
    David Herman
    Department of Molecular Biology, The Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, California 92037, USA
    Nat Chem Biol 2:551-8. 2006
    ..This class of HDAC inhibitors may yield therapeutics for Friedreich's ataxia...
  16. ncbi request reprint Late-onset Tay-Sachs disease as a Friedreich ataxia phenocopy
    Susan L Perlman
    Arch Neurol 59:1832; author reply 1832. 2002