Susan L Perlman
Affiliation: University of California
- Spinocerebellar degenerations: an updateSusan 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...
- AtaxiasSusan 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...
- A review of Friedreich ataxia clinical trial resultsSusan 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...
- Genome-wide significance for a modifier of age at neurological onset in Huntington's disease at 6q23-24: the HD MAPS studyJian Liang Li
Department of Neurology, Boston University School of Medicine, Boston, MA, USA
BMC Med Genet 7:71. 2006....
- Spinocerebellar degenerationsSusan 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...
- Symptomatic and disease-modifying therapy for the progressive ataxiasSusan 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...
- Principal component analysis of cerebellar shape on MRI separates SCA types 2 and 6 into two archetypal modes of degenerationBrian 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...
- Analysis of echocardiograms in a large heterogeneous cohort of patients with friedreich ataxiaSean R Regner
Department of Neurology, University of Pennsylvania, Medical School, Philadelphia, Pennsylvania, USA
Am J Cardiol 109:401-5. 2012....
- Mortality in Friedreich ataxiaAmy 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...
- Antioxidant use in Friedreich ataxiaLauren 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...
- 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...
- Late-onset Friedreich ataxia: phenotypic analysis, magnetic resonance imaging findings, and review of the literatureRoongroj 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...
- MRI shows a region-specific pattern of atrophy in spinocerebellar ataxia type 2Brian 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...
- Spinocerebellar degenerationSusan 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]...
- Histone deacetylase inhibitors reverse gene silencing in Friedreich's ataxiaDavid 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...
- Late-onset Tay-Sachs disease as a Friedreich ataxia phenocopySusan L Perlman
Arch Neurol 59:1832; author reply 1832. 2002