NHGRI logo
NIH Distinguished Investigator

Neurogenetics Branch, NINDS

Adjunct Investigator, NHGRI

Division of Intramural Research


A.B. Harvard University, 1972

A.M. Harvard University, 1972

M.D. Johns Hopkins University, 1976


Dr. Fischbeck studies the mechanisms of hereditary neurological and neuromuscular disorders, with the goal of developing effective treatments for these conditions. His laboratory's areas of research include the polyglutamine expansion diseases (Huntington's disease, Kennedy's disease, and spinocerebellar ataxia), spinal muscular atrophy, Charcot-Marie-Tooth disease, muscular dystrophy, hereditary motor neuron disease, and Friedreich's ataxia. His laboratory studies the disease mechanisms of these conditions in cell culture and model systems. In addition, Dr. Fischbeck directs a genetic outreach program intended to identify and characterize patients and families with hereditary neurological diseases. His group has conducted a clinical trial of gentamicin treatment in patients with muscular dystrophy, and a trial of idebenone treatment for Friedreich's ataxia is ongoing. Efforts also are under way to develop new treatments for spinal muscular atrophy, muscular dystrophy, and the polyglutamine expansion diseases.


Verbeek, D.S., Knight, M.A., Harmison, G.G., Fischbeck, K.H., Howell, B.W. Spinocerebellar ataxia 14 mutations in protein kinase C gamma increase activity and alter membrane targeting. Brain 128:436-442, 2005. [PubMed]

Puls, I., Oh, S.J., Sumner, C., Wallace, K.E., Floeter, M.K., Mann, E.A., Kennedy, W.R., Wendelschafer-Crabb, G., Vortmeyer, A., Powers, R., Finnegan, K., Holzbaur, E.L.F., Fischbeck, K.H., Ludlow, C.L. Distal spinal and bulbar muscular atrophy caused by dynactin mutation. Ann Neurol, 57: 687-694. 2005. [PubMed]

Kernochan, L.E., Russo, M.L., Woodling, N.S., Huynh, T.N., Avila, A., Fischbeck, K.H., Sumner, C.J. The role of histone acetylation in SMN gene expression. Hum Molec Genet, 14:1171-1182. 2005. [PubMed]

Di Prospero, N.A., Fischbeck, K.H. Therapeutics development for triplet repeat expansion diseases. Nature Rev Genet, 6:756-765. 2005. [PubMed]

Sumner, C.J., Kolb, S.J., Harmison, G.G., Jeffries, N.O., Schadt, K., Finkel, R.S., Dreyfuss, G., Fischbeck, K.H. SMN mRNA and protein levels in the peripheral blood: Biomarkers for SMA clinical trials. Neurology, 66:1067-1073. 2006. [PubMed]

Levy, J.R., Sumner, C.J., Caviston, J.P., Tokito, M.K., Ranganathan, S., Ligon, L.A., Wallace, K.E., LaMonte, B.H., Harmison, G.G., Puls, I., Fischbeck, K.H., Holzbaur, E.L. A motor neuron disease-associated mutation in p150 perturbs dynactin function and induces protein aggregation. J Cell Biol, 172:733-745. 2006. [PubMed]

Palazzolo I, Burnett BG, Young JE, Brenne PL, La Spada AR, Fischbeck KH, Howell BW, Pennuto M. Akt blocks ligand binding and protects against expanded polyglutamine androgen receptor toxicity. Hum Molec Genet, 16(13):1593-1603. 2007. [PubMed]

Di Prospero NA, Sumner CJ, Penzak SR, Ravina B, Fischbeck KH, Taylor JP. Safety, tolerability, and pharmacokinetics of high-dose idebenone in patients with Friedreich's ataxia. Arch Neurol, 64(6):803-8. 2007. [PubMed]

Avila, A.M., Burnett, B.G., Taye, A.A., Gabanella, F., Knight, M.A., Hartenstein, P., Cizman, Z., DiProspero, N.A., Pellizoni, L., Fischbeck, K.H., Sumner, C.J. Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy. J Clin Invest, 117:659-671. 2007. [PubMed]

Di Prospero NA, Baker A, Jeffries N, Fischbeck KH. Neurological effects of high-dose idebenone in patients with Friedreich's ataxia: a randomised, placebo-controlled trial. Lancet Neurology, 6(10):878-86. 2007. [PubMed]

Mochel F, Knight MA, Tong WH, Hernandez D, Ayyad K, Taivassalo T, Andersen PM, Singleton A, Rouault TA, Fischbeck KH, Haller RG. Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance. Am J Hum Genet, 82(3):652-60. 2008. [PubMed]

Burnett BG, Andrews J, Ranganathan S, Fischbeck KH, Di Prospero NA Expression of expanded polyglutamine targets profilin for degradation and alters actin dynamics. Neurobiol Disease,30,365-374. 2008. [PubMed]

Knight MA, Hernandez D, Diede SJ, Dauwerse HG, Rafferty I, van de Leemput J, Forrest SM, Gardner RJM, Storey E, van Ommen GJ, Tapscott SJ, Fischbeck KH, Singleton AB. A duplication at chromosome 11q12.2-11q12.3 is associated with spinocerebellar ataxia type 20. Hum Molec Genet, 17(24):3847-3853. 2008. [PubMed]

Palazzolo I, Stack C, Kong L, Musaro A, Adachi H, Katsuno M, Sobue G, Taylor JP, Sumner CJ, Fischbeck KH, Pennuto M. Overexpression of IGF-1 in muscle attenuates disease in a mouse model of spinal and bulbar muscular atrophy, Neuron, 63, 316-328. 2009. [PubMed]

Burnett BG, Munoz E, Tandon A, Kwon D, Sumner CJ, Fischbeck KH. Regulation of SMN protein stability. Mol Cell Biol, 29(5):1107-1115. 2009 [PubMed]

Ranganathan S, Harmison GG, Meyertholen K, Pennuto M, Burnett BG, Fischbeck KH. Mitochondrial abnormalities in spinal and bulbar muscular atrophy. Hum Molec Genet, 18(1): 27-42. 2009. [PubMed]

Rhodes LE, Freeman BK, Auh S, Kokkinis AD, La Pean A, Chen C, Lehky TJ, Schrader JA, Levy EW, Harris-Love M, Di Prospero NA, Fischbeck KH. Clinical features of spinal and bulbar muscular atrophy. Brain, 132:3242-51. 2009. [PubMed]

Landoure G, Zdebik AA, Martinez TL, Burnett BG, Stanescu HC, Inada H, Shi Y, Taye AA, Kong L, Munns CH, Choo SS, Phelps CB, Paudel R, Houlden H, Ludlow CL, Caterina MJ, Gaudet R, Kleta R, Fischbeck KH, Sumner CJ. Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C. Nature Genet, 42:170-174. 2010. [PubMed]

Meilleur KG, Traore M, Sangare M, Britton A, Landoure G, Coulibaly S, Niare B, Mochel F, La Pean A, Rafferty I, Watts C, Shriner D, Littleton-Kearney MT, Blackstone C, Singleton A, Fischbeck KH. Hereditary spastic paraplegia and amyotrophy associated with a novel locus on chromosome 19. Neurogenetics, 11:313-318 2010. [PubMed]

Palazzolo I, Nedelsky NB, Askew CE, Harmison GG, Kasantsev AG, Taylor JP, Fischbeck KH, Pennuto M. B2 attenuates polyglutamine-expanded androgen receptor toxicity in cell and fly models of spinal and bulbar muscular atrophy. J Neurosci Res, 88:2207-2216 2010. [PubMed]

Kwon DY, Motley WW, Fischbeck KH, Burnett BG. Increasing expression and decreasing degradation of SMN ameliorate the spinal muscular atrophy phenotype in mice. Hum Molec Genet, 20:3667-3677. 2011. [PubMed]

Fernandez-Rhodes LE, Kokkinis AD, White MJ, Watts CA, Auh S, Jeffries NO, Shrader JA, Lehky TJ, Li L, Ryder JE, Levy EW, Solomon BI, Harris-Love MO, La Pean A, Schindler AB, Chen CJ, Di Prospero NA, Fischbeck KH. Efficacy and safety of dutasteride in patients with spinal and bulbar muscular atrophy: a randomised placebo-controlled trial. Lancet Neurol, 10:140-147. 2011. [PubMed]

Last updated: July 17, 2012