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Steven S. Scherer, M.D. Ph.D.

Ruth Wagner Van Meter and J. Ray Van Meter Professor of Neurology
Member of the Mahoney Institute for Neurological Science, The Perelman School of Medicine at the University of Pennsylvania
Member of Department of Neurology Executive Committee, The Perelman School of Medicine at the University of Pennsylvania
Department: Neurology

Contact information
165 Johnson Pavilion
Philadelphia, PA 19104-6077
Office: (215) 349-8032
Fax: (215) 573-4454
Graduate Group Affiliations
Education:
B.S.
University of Michigan, 1977.
M.D.
University of Michigan, 1985.
Ph.D.
University of Michigan, 1985.
Post-Graduate Training
Internship, Department of Internal Medicine, Univ. of Pennsylvania, 1985-1986.
Residency, Department of Neurology, Univ. of Pennsylvania, 1986-1989.
Charles A. Dana Fellowship in Neuroscience, Univ. of Pennsylvania, 1989-1991.
Certifications
The American Board of Psychiatry and Neurology, 1990.
Certification in Neuromuscular Medicine, American Board of Psychiatry and Neurology, 2012.
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Description of Research Expertise

RESEARCH INTERESTS
My main interest is the pathogenesis of demyelinating diseases, particularly those caused by mutations in the genes that encode the gap junction proteins Cx32 and Cx47. My current projects in my scientific laboratory relate to (1) the role of Cx32 in the pathogenesis of inherited demyelinating neuropathy, (2) how gap junctions between astrocytes and oligodendrocytes affect the structure/function of CNS myelin, (3) how the myelin sheath organizes the structure of the axon, and (4) animal models of inherited neuropathies. In the clinic, I also participate in a large effort in finding new genetic causes of inherited neuropathies.

Description of Clinical Expertise

My clinical work is focused on people who are known (or are suspected to have) a peripheral neuropathy. To diagnose neuropathy, I perform a comprehensive history and focused neurological examination, typically including clinical neurophysiology ("EMG"). This assessment enables me classify someone's neuropathy (examples - diabetic, inherited, chronic inflammatory demyelinating polyneuropathy (CIDP), Guillain-Barre syndrome (GBS), vasculitic, toxic, idiopathic, "small fiber"), and guides further testing. Establishing the correct diagnosis can lead to treatments for neuropathies caused by compression, inflammation, vitamin deficiencies, amyloid, or toxins. In addition, I work with people to reduce their neuropathic pain.

Description of Other Expertise

Clinical electrophysiology - EMG

Selected Publications

Panosyan, F.B., M. Laura, A.M. Rossor, C. Pisciotta, G. Piscosquito, J. Burns, J. Li, S. Yum, R.A. Lewis, J.W. Day, R. Horvath, D.N. Herrmann, M.E. Shy, D. Pareyson, M.M. Reilly, and S.S. Scherer : Cross-sectional analysis of a large cohort of patients with X-linked Charcot-Marie-Tooth disease (CMTX1). Neurology (in press), 2017.

Fehmi, J., S.S. Scherer, H.J. Willison, and S. Rinaldi : Nodes, paranodes, and neuropathy. J. Neurol. Neurosurg. Psychiat. (in press), 2017.

E. Burnor, E., L. Yang, H. Zhou, K.R. Patterson, C. Quinn, M.M. Reilly, A.M. Rossor, S.S. Scherer, and E. Lancaster : Neurofascin antibodies in autoimmune, genetic, and idiopathic neuropathies. Neurology (in press), 2017.

Abrams, C. K., M. Goman, S. Wong, S.S. Scherer, K.A. Kleopa, A. Peinado, and M. Freidin : Loss of coupling distinguishes GJB1 mutations associated with CNS manifestations of CMT1X from those without CNS manifestations. Sci. Rep. 7: 40166, 2017.

Rossor, A.M., A.S. Carr, H. Devine, A.L. Pelayo-Negro, D. Pareyson, M.E. Shy, S.S. Scherer, and M.M. Reilly : Peripheral neuropathy in complex inherited diseases: an approach to diagnosis. J. Neurol. Neurosurg. Psychiat. (in press), 2017.

Laura, M., D. Singh, G. Ramdharry, J. Morrow, M. Skorupinska, D. Pareyson, J. Burns, R.A. Lewis, S.S. Scherer, D.N. Herrmann, N. Cullen, C. Bradish, L. Gaiani, N. Martinelli, P. Gibbons, G. Pfeffer, P. Phisitkul, K. Wapner, J. Sanders, S. Flemister, M.E. Shy, M.M. Reilly, and the Inherited Neuropathies Consortium : Prevalence and orthopedic management of foot and ankle deformities in Charcot-Marie-Tooth disease. Muscle Nerve (in press), 2017.

Zhao, H. T., S. Damle, K. Ikeda-Lee, S. Kuntz, J. Li, A. Mohan, A. Kim, G. Hung, M.A. Scheideler, S.S. Scherer, J. Svaren, E. E. Swayze, H.B. Kordasiewicz : PMP22 antisense oligonucleotides reverse clinical, pathological, and molecular features of Charcot-Marie-Tooth disease type 1A. J. Clin. Invest. (in press), 2017.

Thomas, F.P., V. Guergueltcheva, F.A.A. Gondim, I. Tournev, C.V. Rao, B. Ishpekova, L.J. Kinsella, Y. Pan, T.J. Geller, I. Litvinenko, P. Jonghe, S.S. Scherer, and A. Jordanova : Clinical, neurophysiological and morphological study of dominant intermediate Charcot-Marie-Tooth type C neuropathy. J. Neurol. 263: 467-476, 2016.

Kagiava, A., I. Sargiannidou, G. Theophilidis, C. Karaiskos, J. Richter, A. Bashiardes, N. Schiza, M. Nearchou, C. Christodoulou, S.S. Scherer, and K.A. Kleopa : Intrathecal gene delivery rescues a model of demyelinating peripheral neuropathy. Proc. Natl. Acad. Sci. USA 113: E2421-2429, 2016.

Motley, W.W., P. Palaima, S.W. Yum, M.A. Gonzalez, F. Tao, J.V. Wanschitz, A.V. Strickland, W.N. Löscher, E. De Vriendt, S. Koppi, L. Medne, A. Janecke, A. Jordanova, S. Züchner, S.S. Scherer : De novo PMP2 mutations in families with type 1 Charcot-Marie-Tooth disease. Brain 139: 1649-1656 2016.

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Last updated: 12/05/2017
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