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
Scherer, S.S., K.A. Kleopa, and M.D. Benson : Peripheral Neuropathies. In: Rosenberg’s Molecular and Genetic Basis of Neurological and Psychiatric Disease, 5th edition. R.N. Rosenberg and J.M. Pascual (eds.). Elsevier (in press), 2015.
Fridman, V., B. Bundy, M.M. Reilly, D. Pareyson, C. Bacon, J. Burns, J. Day, S. Feely, R.S. Finkel, T. Grider, C. Kirk, D.N. Herrmann, M. Laurá, J. Li, T. Lloyd, C. Sumner, F. Muntoni, S. Ramchandren, R. Shy, C.E. Siskind, S. Yum, I. Moroni, E. Pagliano, S. Zuchner, S.S. Scherer, and M.E. Shy : CMT Subtypes and disease burden in patients enrolled in the INC natural history study (6601) from 2009-2013. J. Neurol. Neurosurg. Psychiat. (in press), 2015.
Baets, J., Duan, X., Wu, Y., Smith, G., Seeley, W., Mademan, I., McGrath, N.M., Beadell, N.C., Khoury, J., Botuyan, M.-V., Mer, G., Worrell, G.A., Hojo, K., Laura, M., Liu, Y.-T., Senderek, J.P., Weis, J., Van den Bergh, P., Merrill, S.L., Reilly, M.M., Houlden, H., Scherer, S.S., De Jonghe, P, Dyck, P. J., Klein, C.J. : Maintenance methyltransferase defect causes a spectrum of neurological diseases. Brain (in press), 2015.
Abrams, C.K., S.S. Scherer, R. Flores-Obando, S. Wong, E. Lamantea, L. Farina, V. Scaioli, D. Pareyson, E. Salsano: A new mutation in GJC2 associated with subclinical leukodystrophy. J. Neurology 261: 1929-1938, 2014.
King, C.H., E. Lancaster, D. Salomon, E. Peles, S.S. Scherer : Kv7.2 regulates the function of peripheral sensory neurons. J. Comp. Neurol. 522: 3262-3280, 2014.
Willison, H.J. and S.S. Scherer : Ranvier revisited: Novel nodal antigens stimulate interest in GBS pathogenesis. Neurology 83: 106-108, 2014.
Caramins, M., J.G. Colebatch, M.N. Bainbridge, S.S. Scherer, C.K. Abrams, E.L. Hackett, M.M. Freidin, S.N. Jhangiani, M. Wang, Y. Wu, D.M. Muzny, R. Lindeman, R.A. Gibbs. : Exome sequencing identification of a GJB1 missense mutation in a kindred with X-linked spinocerebellar ataxia (SCA-X1). Hum. Mol. Genet. 22: 4329-4338, 2013.
Niu, J., L. Ding, J. Li, H. Kim, J. Liu, H. Li, T. Badea, I.D. Duncan, Y.-J. Son, S.S. Scherer, W. Luo: Modality-based segregation of ascending somatosensory axons in the spinal cord dorsal column. J. Neurosci. 33: 17691-17709, 2013.
Fleisher, J., M. Richie, R. Price, S.S. Scherer, J. Dalmau, and E. Lancaster : Acquired neuromyotonia heralding recurrent thymoma in myasthenia gravis. Arch. Neurol. 69: 303-311, 2013.
Abrams, C.K. and S.S. Scherer : Gap junctions in inherited disorders of the central nervous system. Biochim. Biophys. Acta 1818: 2030-2047, 2012.
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Last updated: 01/02/2015
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