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

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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
Graduate Group Affiliations

Contact information
165 Johnson Pavilion
Philadelphia, PA 19104-6077
Office: (215) 349-8032
Fax: 215-349-5579
University of Michigan, 1977.
University of Michigan, 1985.
University of Michigan, 1985.
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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

Scherer, S.S., K.A. Kleopa, and M.D. Benson : Peripheral Neuropathies. In: Rosenberg’s Molecular and Genetic Basis of Neurological and Psychiatric Disease, 6th edition, R.N. Rosenberg and J.M. Pascual (eds.). Elsevier, Page: 345-375, 2020.

Motley, W.W., S. Züchner, and S.S. Scherer : Isoform-specific loss of Dystonin causes hereditary motor and sensory neuropathy. Neurol. Genet. 6: e496, 2020.

Sase S., A.A. Almad, C.A. Boecker, P. Guedes-Dias, J.J. Li, A. Takanohashi, A. Patel, T. McCaffrey, H. Patel, D. Sirdeshpande, J. Curiel, J.S.-H. Liu, Q. Padiath, E.L.F. Holzbaur, S.S. Scherer, A. Vanderver : TUBB4A mutations results in both glial and neuronal degeneration in an H-ABC leukodystrophy mouse model. eLife 9: e52986, 2020.

Cortese A., Y. Zhu, A.P. Rebelo, S. Negri, S. Courel, L. Abreu, C.J. Bacon, Y. Bai, D.M. Bis-Brewer, E. Bugiardini, E. Buglo, M.C. Danzi, S.M.E. Feely, A. Athanasiou-Fragkouli, N.A. Haridy, Inherited Neuropathy Consortium, R. Isasi, A. Khan, M. Laura, S. Magri, M. Pipis, C. Pisciotta, E. Powell, A.M. Rossor, P. Saveri, J.E. Sowden, S. Tozza, J. Vandrovcova, J. Dallman, E. Grignani, E. Marchioni, S.S. Scherer, B. Tang, Z. Lin, A. Al-Ajmi, R. Schule, M. Synofzik, T. Maisonobe, T. Stojkovic, M. Auer-Grumbach, M.A. Abdelhamed, S.A. Hamed, R. Zhang, F. Manganelli, L. Santoro, F. Taroni, D. Pareyson, H. Houlden, D.N. Herrmann, M.M. Reilly, M.E. Shy, R.G. Zhai, S. Züchner: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes. Nat Genet. 52: 473-481, 2020.

Li J.J., N. Sarute, E. Lancaster, G. Otkiran-Clare, B.M. Fagla, S.R. Ross, and S.S. Scherer : A recessive Trim2 mutation causes an axonal neuropathy in mice. Neurobiol. Dis. 140: 104845, 2020.

163. Fridman, V., S. Sillau, G. Acsadi, C. Bacon, K. Dooley, J. Burns, J. Day, S. Feely, R.S. Finkel, T. Grider, L. Gutmann, D.N. Herrmann, C.A. Kirk, S.A. Knause, M. Laura, R.A. Lewis, J. Li, T.E. Lloyd, I. Moroni, F. Muntoni, E. Pagliano, C. Pisciotta, G. Piscosquito, S. Ramchandren, M. Saporta, R. Sadjadi, R.R. Shy, C.E. Siskind, C.J. Sumner, D. Walk, J. Wilcox, S.W. Yum, S. Züchner, S.S. Scherer, D. Pareyson, M.M. Reilly, M.E Shy : A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores. Neurology 94: e884-e896, 2020.

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.

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.

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Last updated: 12/10/2020
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