Appointments and Referrals: 1-800-TRY-CHOP (1-800-879-2467)
MD - Johns Hopkins University School of Medicine, Baltimore, MD
Internal Medicine - Hospital of the Univeristy of Pennsylvania, Philadelphia, PA
Neurology - Hospital of the University of Pennsylvania, Philadelphia, PA
Pharmacology and Neurology - University of Pennsylvania School of Medicine, Philadelphia, PA
Neurology – American Board of Psychiatry and Neurology
PhD in Neuroscience - Johns Hopkins University School of Medicine, Baltimore, MD
Attending Physician
Professor of Neurology, Perelman School of Medicine at the University of Pennsylvania
Glutamate receptors
Sharma R, Al-Saleem FH, Puligedda RD, Rattelle A, Lynch DR, Dessain SK. Membrane-bound and soluble forms of an NMDA receptor extracellular domain retain epitopes targeted in auto-immune encephalitis. BMC Biotechnol. 2018 Jun 27;18(1):41. doi: 10.1186/s12896-018-0450-1.
Olivier CB, Sundaram V, Bhatt DL, Leonardi S, Lopes RD, Ding VY, Yang L, Stone GW, Steg PG, Gibson CM, Hamm CW, Price MJ, White HD, Desai M, Lynch DR Jr, Harrington RA, Mahaffey KW; CHAMPION PLATFORM and CHAMPION PCI Investigators. Definitions of peri-procedural myocardial infarction and the association with one-year mortality: Insights from CHAMPION trials. Int J Cardiol. 2018 Jun 8. pii: S0167-5273(17)38082-8. doi: 10.1016/j.ijcard.2018.06.034. [Epub ahead of print]
Nachun D, Gao F, Isaacs C, Strawser C, Yang Z, Dokuru D, Van Berlo V, Sears R, Farmer J, Perlman S, Lynch DR, Coppola G. Peripheral blood gene expression reveals an inflammatory transcriptomic signature in Friedreich's ataxia patients. Hum Mol Genet. 2018 May 22. doi: 10.1093/hmg/ddy198. [Epub ahead of print]
Lynch DR, McCormick A, Schadt K, Kichula E. Pediatric Ataxia: Focus on Chronic Disorders. Semin Pediatr Neurol. 2018 Apr;25:54-64. doi: 10.1016/j.spen.2018.01.001. Epub 2018 Jan 5.
Salovin A, Glanzman J, Roslin K, Armangue T, Lynch DR, Panzer JA. Anti-NMDA receptor encephalitis and non-encephalitic HSV-1 infection. Neurol Neuroimmunol Neuroinflamm. 2018 Apr 5;5(4):e458. doi: 10.1212/NXI.0000000000000458. eCollection 2018 Jul.
Ejaz R, Chen S, Isaacs CJ, Carnevale A, Wilson J, George K, Delatycki MB, Perlman SL, Mathews KD, Wilmot GR, Hoyle JC, Subramony SH, Zesiewicz T, Farmer JM, Lynch DR, Yoon G. Impact of Mobility Device Use on Quality of Life in Children With Friedreich Ataxia. J Child Neurol. 2018 May;33(6):397-404. doi: 10.1177/0883073818764941. Epub 2018 Apr 2.
Wang Q, Guo L, Strawser CJ, Hauser LA, Hwang WT, Snyder NW, Lynch DR, Mesaros C, Blair IA. Low apolipoprotein A-I levels in Friedreich's ataxia and in frataxin-deficient cells: Implications for therapy. PLoS One. 2018 Feb 15;13(2):e0192779. doi: 10.1371/journal.pone.0192779. eCollection 2018.
Lin H, Magrane J, Rattelle A, Stepanova A, Galkin A, Clark EM, Dong YN, Halawani SM, Lynch DR. Correction: Early cerebellar deficits in mitochondrial biogenesis and respiratory chain complexes in the KIKO mouse model of Friedreich ataxia (doi: 10.1242/dmm.030502). Dis Model Mech. 2018 Jan 29;11(1). pii: dmm033415. doi: 10.1242/dmm.033415.
Guo L, Wang Q, Weng L, Hauser LA, Strawser CJ, Rocha AG, Dancis A, Mesaros C, Lynch DR, Blair IA. Liquid Chromatography-High Resolution Mass Spectrometry Analysis of Platelet Frataxin as a Protein Biomarker for the Rare Disease Friedreich's Ataxia. Anal Chem. 2018 Feb 6;90(3):2216-2223. doi: 10.1021/acs.analchem.7b04590. Epub 2018 Jan 11.
Lynch DR, Rattelle A, Dong YN, Roslin K, Gleichman AJ, Panzer JA. Anti-NMDA Receptor Encephalitis: Clinical Features and Basic Mechanisms. Adv Pharmacol. 2018;82:235-260. doi: 10.1016/bs.apha.2017.08.005. Epub 2017 Nov 8.
Long A, Napierala JS, Polak U, Hauser L, Koeppen AH, Lynch DR, Napierala M. Somatic instability of the expanded GAA repeats in Friedreich's ataxia. PLoS One. 2017 Dec 19;12(12):e0189990. doi: 10.1371/journal.pone.0189990. eCollection 2017.
Lin H, Magrane J, Clark EM, Halawani SM, Warren N, Rattelle A, Lynch DR. Early VGLUT1-specific parallel fiber synaptic deficits and dysregulated cerebellar circuit in the KIKO mouse model of Friedreich ataxia. Dis Model Mech. 2017 Dec 19;10(12):1529-1538. doi: 10.1242/dmm.030049.
Napierala JS, Li Y, Lu Y, Lin K, Hauser LA, Lynch DR, Napierala M. Comprehensive analysis of gene expression patterns in Friedreich's ataxia fibroblasts by RNA sequencing reveals altered levels of protein synthesis factors and solute carriers. Dis Model Mech. 2017 Nov 1;10(11):1353-1369. doi: 10.1242/dmm.030536.
Lin H, Magrane J, Rattelle A, Stepanova A, Galkin A, Clark EM, Dong YN, Halawani SM, Lynch DR. Early cerebellar deficits in mitochondrial biogenesis and respiratory chain complexes in the KIKO mouse model of Friedreich ataxia. Dis Model Mech. 2017 Nov 1;10(11):1343-1352. doi: 10.1242/dmm.030502. Erratum in: Dis Model Mech. 2018 Jan 29;11(1):.
McCormick A, Farmer J, Perlman S, Delatycki M, Wilmot G, Matthews K, Yoon G, Hoyle C, Subramony SH, Zesiewicz T, Lynch DR, McCormack SE. Impact of diabetes in the Friedreich ataxia clinical outcome measures study. Ann Clin Transl Neurol. 2017 Jul 26;4(9):622-631. doi: 10.1002/acn3.439. eCollection 2017 Sep.
Clark E, Butler JS, Isaacs CJ, Napierala M, Lynch DR. Selected missense mutations impair frataxin processing in Friedreich ataxia. Ann Clin Transl Neurol. 2017 Jun 29;4(8):575-584. doi: 10.1002/acn3.433. eCollection 2017 Aug. Erratum in: Ann Clin Transl Neurol. 2017 Oct 10;4(10):764.
Strawser C, Schadt K, Hauser L, McCormick A, Wells M, Larkindale J, Lin H, Lynch DR. Pharmacological therapeutics in Friedreich ataxia: the present state. Expert Rev Neurother. 2017 Sep;17(9):895-907. doi: 10.1080/14737175.2017.1356721. Epub 2017 Jul 26.
McCormick A, Shinnick J, Schadt K, Rodriguez R, Addonizio L, Hirano M, Perlman S, Lin KY, Lynch DR. Cardiac transplantation in Friedreich Ataxia: Extended follow-up. J Neurol Sci. 2017 Apr 15;375:471-473. doi: 10.1016/j.jns.2017.01.027. Epub 2017 Jan 10.
Lynch DR, Kichula E. Challenges ahead for trials in Friedreich's ataxia. Lancet Neurol. 2016 Dec;15(13):1300-1301. doi: 10.1016/S1474-4422(16)30281-2.
DeBrosse C, Nanga RP, Wilson N, D'Aquilla K, Elliott M, Hariharan H, Yan F, Wade K, Nguyen S, Worsley D, Parris-Skeete C, McCormick E, Xiao R, Cunningham ZZ, Fishbein L, Nathanson KL, Lynch DR, Stallings VA, Yudkoff M, Falk MJ, Reddy R, McCormack SE. Muscle oxidative phosphorylation quantitation using creatine chemical exchange saturation transfer (CrCEST) MRI in mitochondrial disorders. JCI Insight. 2016 Nov 3;1(18):e88207.
Panzer JA, Anand R, Dalmau J, Lynch DR. Corrigendum to "Antibodies to dendritic neuronal surface antigens in opsoclonus myoclonus ataxia syndrome" [J. Neuroimmunol. 286 (2015) 86-92]. J Neuroimmunol. 2016 Nov 15;300:74. doi: 10.1016/j.jneuroim.2016.05.001. Epub 2016 Jun 4.
Isaacs CJ, Brigatti KW, Kucheruk O, Ratcliffe S, Sciascia T, McCormack SE, Willi SM, Lynch DR. Effects of genetic severity on glucose homeostasis in Friedreich ataxia. Muscle Nerve. 2016 Nov;54(5):887-894. doi: 10.1002/mus.25136. Epub 2016 Aug 30.
Patel M, Isaacs CJ, Seyer L, Brigatti K, Gelbard S, Strawser C, Foerster D, Shinnick J, Schadt K, Yiu EM, Delatycki MB, Perlman S, Wilmot GR, Zesiewicz T, Mathews K, Gomez CM, Yoon G, Subramony SH, Brocht A, Farmer J, Lynch DR. Progression of Friedreich ataxia: quantitative characterization over 5 years. Ann Clin Transl Neurol. 2016 Jul 25;3(9):684-94. doi: 10.1002/acn3.332. eCollection 2016 Sep.
Bhalla AD, Khodadadi-Jamayran A, Li Y, Lynch DR, Napierala M. Deep sequencing of mitochondrial genomes reveals increased mutation load in Friedreich's ataxia. Ann Clin Transl Neurol. 2016 Jun 14;3(7):523-36. doi: 10.1002/acn3.322. eCollection 2016 Jul.
Yang Y, Zhang L, Lynch DR, Lukas T, Ahmeti K, Sleiman PM, Ryan E, Schadt KA, Newman JH, Deng HX, Siddique N, Siddique T. Compound heterozygote mutations in SPG7 in a family with adult-onset primary lateral sclerosis. Neurol Genet. 2016 Mar 3;2(2):e60. doi: 10.1212/NXG.0000000000000060. eCollection 2016 Apr.
Shinnick JE, Schadt K, Strawser C, Wilcox N, Perlman SL, Wilmot GR, Gomez CM, Mathews KD, Yoon G, Zesiewicz T, Hoyle C, Subramony SH, Yiu EM, Delatycki MB, Brocht AF, Farmer JM, Lynch DR. Comorbid Medical Conditions in Friedreich Ataxia: Association With Inflammatory Bowel Disease and Growth Hormone Deficiency. J Child Neurol. 2016 Aug;31(9):1161-5. doi: 10.1177/0883073816643408. Epub 2016 Apr 12.
Lin H, Jacobi AA, Anderson SA, Lynch DR. D-Serine and Serine Racemase Are Associated with PSD-95 and Glutamatergic Synapse Stability. Front Cell Neurosci. 2016 Feb 25;10:34. doi: 10.3389/fncel.2016.00034. eCollection 2016.
Shinnick JE, Isaacs CJ, Vivaldi S, Schadt K, Lynch DR. Friedreich Ataxia and nephrotic syndrome: a series of two patients. BMC Neurol. 2016 Jan 12;16:3. doi: 10.1186/s12883-016-0526-2.
Galea CA, Huq A, Lockhart PJ, Tai G, Corben LA, Yiu EM, Gurrin LC, Lynch DR, Gelbard S, Durr A, Pousset F, Parkinson M, Labrum R, Giunti P, Perlman SL, Delatycki MB, Evans-Galea MV. Compound heterozygous FXN mutations and clinical outcome in friedreich ataxia. Ann Neurol. 2016 Mar;79(3):485-95. doi: 10.1002/ana.24595.
Wells M, Seyer L, Schadt K, Lynch DR. IFN-γ for Friedreich ataxia: present evidence. Neurodegener Dis Manag. 2015 Dec;5(6):497-504. doi: 10.2217/nmt.15.52. Epub 2015 Dec 4.
Friedman EA, Texeira L, Delaney J, Weeke PE, Lynch DR Jr, Kasasbeh E, Song Y, Harrell FE Jr, Denny JC, Hamm HE, Roden DM, Cleator JH. Evaluation of the F2R IVS-14A/T PAR1 polymorphism with subsequent cardiovascular events and bleeding in patients who have undergone percutaneous coronary intervention. J Thromb Thrombolysis. 2016 May;41(4):656-62. doi: 10.1007/s11239-015-1285-4.
Lynch DR Jr, Fearon WF. Landmark Fractional Flow Reserve Trials. Interv Cardiol Clin. 2015 Oct;4(4):435-441. doi: 10.1016/j.iccl.2015.06.004.
Li Y, Lu Y, Polak U, Lin K, Shen J, Farmer J, Seyer L, Bhalla AD, Rozwadowska N, Lynch DR, Butler JS, Napierala M. Expanded GAA repeats impede transcription elongation through the FXN gene and induce transcriptional silencing that is restricted to the FXN locus. Hum Mol Genet. 2015 Dec 15;24(24):6932-43. doi: 10.1093/hmg/ddv397. Epub 2015 Sep 23.
Lazaropoulos M, Dong Y, Clark E, Greeley NR, Seyer LA, Brigatti KW, Christie C, Perlman SL, Wilmot GR, Gomez CM, Mathews KD, Yoon G, Zesiewicz T, Hoyle C, Subramony SH, Brocht AF, Farmer JM, Wilson RB, Deutsch EC, Lynch DR. Frataxin levels in peripheral tissue in Friedreich ataxia. Ann Clin Transl Neurol. 2015 Aug;2(8):831-42. doi: 10.1002/acn3.225. Epub 2015 Jul 1.
Panzer JA, Anand R, Dalmau J, Lynch DR. Antibodies to dendritic neuronal surface antigens in opsoclonus myoclonus ataxia syndrome. J Neuroimmunol. 2015 Sep 15;286:86-92. doi: 10.1016/j.jneuroim.2015.07.007. Epub 2015 Jul 26. Erratum in: J Neuroimmunol. 2016 Nov 15;300:74.
Worth AJ, Basu SS, Deutsch EC, Hwang WT, Snyder NW, Lynch DR, Blair IA. Stable isotopes and LC-MS for monitoring metabolic disturbances in Friedreich's ataxia platelets. Bioanalysis. 2015;7(15):1843-55. doi: 10.4155/bio.15.118.
Li Y, Polak U, Bhalla AD, Rozwadowska N, Butler JS, Lynch DR, Dent SYR, Napierala M. Excision of Expanded GAA Repeats Alleviates the Molecular Phenotype of Friedreich's Ataxia. Mol Ther. 2015 Jun;23(6):1055-1065. doi: 10.1038/mt.2015.41. Epub 2015 Mar 11.
Lynch DR, Perlman SL. Friedreich's ataxia: the European consortium. Lancet Neurol. 2015 Feb;14(2):130-1. doi: 10.1016/S1474-4422(14)70327-8. Epub 2015 Jan 5.
Seyer L, Greeley N, Foerster D, Strawser C, Gelbard S, Dong Y, Schadt K, Cotticelli MG, Brocht A, Farmer J, Wilson RB, Lynch DR. Open-label pilot study of interferon gamma-1b in Friedreich ataxia. Acta Neurol Scand. 2015 Jul;132(1):7-15. doi: 10.1111/ane.12337. Epub 2014 Oct 21.
Zyskind JW, Wang Y, Cho G, Ting JH, Kolson DL, Lynch DR, Jordan-Sciutto KL. E2F1 in neurons is cleaved by calpain in an NMDA receptor-dependent manner in a model of HIV-induced neurotoxicity. J Neurochem. 2015 Mar;132(6):742-55. doi: 10.1111/jnc.12956. Epub 2014 Nov 10.
Adang LA, Lynch DR, Panzer JA. Pediatric anti-NMDA receptor encephalitis is seasonal. Ann Clin Transl Neurol. 2014 Nov;1(11):921-5. doi: 10.1002/acn3.100. Epub 2014 Oct 30.
Strawser CJ, Schadt KA, Lynch DR. Therapeutic approaches for the treatment of Friedreich's ataxia. Expert Rev Neurother. 2014 Aug;14(8):949-57. doi: 10.1586/14737175.2014.939173. Epub 2014 Jul 18.
Greeley NR, Regner S, Willi S, Lynch DR. Cross-sectional analysis of glucose metabolism in Friedreich ataxia. J Neurol Sci. 2014 Jul 15;342(1-2):29-35. doi: 10.1016/j.jns.2014.04.015. Epub 2014 Apr 24.
Lynch DR, Fischbeck KH. Nicotinamide in Friedreich's ataxia: useful or not? Lancet. 2014 Aug 9;384(9942):474-5. doi: 10.1016/S0140-6736(14)60573-0. Epub 2014 Apr 30.
Deutsch EC, Oglesbee D, Greeley NR, Lynch DR. Usefulness of frataxin immunoassays for the diagnosis of Friedreich ataxia. J Neurol Neurosurg Psychiatry. 2014 Sep;85(9):994-1002. doi: 10.1136/jnnp-2013-306788. Epub 2014 Jan 24.
Panzer JA, Gleichman AJ, Lynch DR. Glutamatergic auto encephalitides: an emerging field. J Neural Transm (Vienna). 2014 Aug;121(8):957-68. doi: 10.1007/s00702-013-1152-4. Epub 2014 Jan 9.
Lynch DR, Seyer L. Friedreich ataxia: new findings, new challenges. Ann Neurol. 2014;76(4):487-488.
Delatycki,M.B.,Tai, G., Corben, L.,Yiu, E.M. ,Evans-Galea, M. V , Stephenson,S., Gurrin, L., Allen, K. J., Lynch, D. R., Lockhart, P.J.: HFE p.C282Y heterozygosity is associated with earlier disease onset in Friedreich ataxia. Movement Disorders 29(7): 940-3, 2014.
Lin, H., Hsu,F-C, Baumann, B. H., Coulter, D. A., Lynch, D. R.: Cortical synaptic NMDA receptor deficits in alpha7 nicotinic acetylcholine receptor gene deletion models: Implications for neuropsychiatric diseases. Neurobiology of Disease 63: 129-140, 2014.
Adang,L., Lynch, D. R., Panzer, J.: Pediatric anti-NMDA receptor encephalitis is seasonal. Annals of Clinical and Translational Neurology 2014.
Zyskind JW, Wang Y, Cho G, Ting JH, Kolson DL, Lynch DR, Jordan-Sciutto KL.: E2F1 in neurons is cleaved by calpain in an NMDA receptor-dependent manner in a model of HIV-induced neurotoxicity. J Neurochem. 2014.
St John Sutton, M., Ky, B., Regner, S.R., Schadt, K.M., Plappert, T., He, J., D’Souza, B. , Lynch, D.R.: Longitudinal Strain in Friedreich Ataxia: A Potential Marker for Early Left Ventricular Dysfunction. Echocardiography 31(1): 50-7, 2014.
Eric C. Deutsch,Devin Oglesbee, Nathaniel R. Greeley, David R. Lynch: Utility of Frataxin Immunoassays for the diagnosis of Friedreich Ataxia. Journal of Neurology, Neurosurgery and Psychiatry 2014.
H. Lin, F.-C. Hsu1, B. H. Baumann, D. A. Coulter, S. A. Anderson, and D. R. Lynch: Cortical parvalbumin GABAergic deficits with ?7 nicotinic acetylcholine receptor deletion: Implications for schizophrenia. Molecular and Cellular Neuroscience 2014.
Gleichman, A.L., Panzer, J. A., Baumann, B., Dalmau, J., Lynch, D. R.: Antigenic and mechanistic characterization of anti-AMPA receptor encephalitis. Annals of Clinical and Translational Neurology 1(3): 180-189, 2014.
LA Seyer, K Galetta, J Wilson, R Sakai, S Perlman, K Mathews, GR Wilmot, CM Gomez, B Ravina, T Zesiewicz, KO Bushara, SH Subramony, T Ashizawa, MB Delatycki, A Brocht, LJ Balcer, DR Lynch: Analysis of the visual system in Friedreich ataxia. Journal of Neurology 260(9): 2362-9, 2013.
Devin Oglesbee; Charles Kroll, Oleksandr Gakh, Eric C. Deutsch, David R. Lynch, Ralitza Gavrilova, Silvia Tortorelli, Kimiyo Raymond, Dimitar Gavrilov, Piero Rinaldo, Dietrich Matern, and Grazia Isaya,: A High-Throughput Immunoassay for the Biochemical Diagnosis of Friedreich Ataxia in Dried Blood Spots and Whole Blood. Clinical Chemistry 59(10): 1461-9, 2013.
Gresa-Arribas, N., Titulaer, M.J., Torrents, A., Aguilar, E., McCracken, L. Leypoldt, F., Gleichman, A. J., Balice-Gordon, R., Rosenfeld, M.R., Lynch, D.R., Graus, F., Dalmau, J.: Diagnosis and significance of antibody titers in anti-NMDA receptor encephalitis, a retrospective study. Lancet Neurology 4422(13): 70282-5., 2013.
Sankha S. Basu, Eric C. Deutsch, Alec Schmaier, David R. Lynch, and Ian A. Blair: Human platelets as a platform to monitor metabolic biomarkers using stable isotopes and liquid chromatography-mass spectrometry. Bioanalysis 5(24): 3009-21., 2013.
Friedman, L.S., Schadt, K.A., Regner, S.R., Mark, G.E., Lin, K.Y., Sciascia, T., St John Sutton, M., Willi, S., Lynch, D.R.: Elevation of Serum Cardiac Troponin I in a Cross-Sectional Cohort of Asymptomatic Subjects with Friedreich Ataxia. International Journal of Cardiology 167(4): 1622-4, 2013.