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.
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.
Clinical electrophysiology - EMG
Selected Publications
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.
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.
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.
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.
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.
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., 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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Last updated: 12/10/2020
The Trustees of the University of Pennsylvania
