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Steven S. Scherer, M.D. Ph.D.
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Emeritus Professor of Neurology
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Member of the Mahoney Institute for Neurological Science, The Perelman School of Medicine at the University of Pennsylvania
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Member of Department of Neurology Executive Committee, The Perelman School of Medicine at the University of Pennsylvania
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Department: Neurology
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Contact information
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165 Johnson Pavilion
Philadelphia, PA 19104-6077
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Philadelphia, PA 19104-6077
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Office: (215) 349-8032
32 Fax: 215-349-5579
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32 Fax: 215-349-5579
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Publications
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Education:
21 9 B.S. c
2f University of Michigan, 1977.
21 a Ph.D. c
2f University of Michigan, 1985.
21 9 M.D. c
2f University of Michigan, 1985.
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Permanent link21 9 B.S. c
2f University of Michigan, 1977.
21 a Ph.D. c
2f University of Michigan, 1985.
21 9 M.D. c
2f University of Michigan, 1985.
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281 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.
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Description of Research Expertise
23 RESEARCH INTERESTS281 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.
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Description of Clinical Expertise
2e7 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.62
Description of Other Expertise
30 Clinical electrophysiology - EMGe 29
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e8 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.
13d 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.
19b 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.
387 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.
10b 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.
30e 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.
117 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.
1d7 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.
131 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.
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Selected Publications
282 163. 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.e8 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.
13d 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.
19b 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.
387 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.
10b 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.
30e 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.
117 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.
1d7 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.
131 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.
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