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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
University of Michigan, 1977.
University of Michigan, 1985.
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.
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

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

Dankwa, L., Richardson, J., Motley, W.W., Scavina, M., Bardakjian, T., Züchner, S., Scherer, S.S.: A novel MFN2 mutation causes variable clinical severity in a multi-generational CMT2 family. Neuromusc Dis 29: 134-137, 2019.

Pareyson D., T. Stojkovic, M.M. Reilly, S. Leonard-Louis, M. Laura, J. Blake, Y. Parman, E. Battaloglu, M. Tazir, M. Bellatache, N. Bonello-Palot, M. Levy, S. Sacconi, R. Guimaraes-Costa, S. Attarian, P. Latour, G. Sole, A. Megarbane, R. Horvath, G. Ricci, B.O. Choi, A. Schenone, C. Gemelli, A. Geroldi, M. Sabatelli, M. Luigetti, L. Santoro, R. Manganelli, A. Quattrone, P. Valentino, T. Murakami, S.S. Scherer, L. Dankwa, M.E. Shy, C.J. Bacon, D.N. Herrmann, A. Zambon, I. Tramacere, C. Pisciotta, S. Magri, S.C. Previtali, A. Bolino : A multicentre retrospective study of Charcot-Marie-Tooth disease type 4B (CMT4B) due to mutations in myotubularin-related proteins (MTMRs). Ann Neurol. 86: 55-67, 2019.

Tao, F., Beecham, G. W., Rebelo, A. P., Svaren, J., Blanton, S. H., Moran, J. J., Lopez-Anido, C., Morrow, J. M., Abreu, L., Rizzo, D., Kirk, C. A., Wu, X., Feely, S., Verhamme, C., Saporta, M. A., Herrmann, D. N., Day, J. W., Sumner, C. J., Lloyd, T. E., Li, J., Yum, S. W., Taroni, F., Baas, F., Choi, B. O., Pareyson, D., Scherer, S. S., Reilly, M. M., Shy, M. E., Zuchner, S., Inherited Neuropathy, Consortium: Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1A. Ann Neurol 85(3): 316-330, 2019.

Phillips, J., Courel, S., Bis-Brewer, D., Rebelo, A., Bardakjian, T., Dankwa, L., Hamedani, A., Züchner, S., Scherer, S.: POLG mutations presenting as CMT. J. Periph. Nerv. Syst. 24: 214-218, 2019.

A. Horga, E. Bugiardini, A. Manole, F. Bremner, Z. Jaunmuktane, L. Dankwa, A.P. Rebelo, C.E. Woodward, I.P. Hargreaves, A. Cortese, A.M. Pittman, S. Brandner, J.M. Polke, R.D.S. Pitceathly, S. Züchner, M.G. Hanna, S.S. Scherer, H. Houlden, M.M. Reilly : Autosomal dominant optic atrophy and cataract “plus” phenotype including axonal neuropathy. Neurol. Genet. 5: e322, 2019.

Dankwa, L., Richardson, J., Motley, W.W., Züchner, S., Scherer, S.S.: A mutation in the heptad repeat 2 domain of MFN2 in a large CMT2A family. J. Periph. Nerv. Syst. 23: 36-39, 2018.

Lancaster, E., Li, J., Hanania, T., Liem, R., Scheideler, M. A., Scherer, S. S.: Myelinated axons fail to develop properly in a genetically authentic mouse model of Charcot-Marie-Tooth disease type 2E. Exp Neurol 308: 13-25, 2018.

Burnor, E., Yang, L., Zhou, H., Patterson, K. R., Quinn, C., Reilly, M. M., Rossor, A. M., Scherer, S. S., Lancaster, E.: Neurofascin antibodies in autoimmune, genetic, and idiopathic neuropathies. Neurology 90(1): e31-e38, 2018.

Bardakjian, TM, Helbig, I, Quinn, C, Elman, LB, McCluskey, LF, Scherer, SS, Gonzalez-Alegre, P: Genetic test utilization and diagnostic yield in adult patients with neurological disorders. Neurogenetics 19: 105-110, 2018.

Allard, D. E., Wang, Y., Li, J. J., Conley, B., Xu, E. W., Sailer, D., Kimpston, C., Notini, R., Smith, C. J., Koseoglu, E., Starmer, J., Zeng, X. L., Howard, J. F., Jr., Hoke, A., Scherer, S. S., Su, M. A.: Schwann cell-derived periostin promotes autoimmune peripheral polyneuropathy via macrophage recruitment. J Clin Invest 128(10): 4727-4741, 2018.

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Last updated: 01/16/2020
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