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Last Name

profileFlorian Eichler, M.D.

TitleAssociate Professor of Neurology
InstitutionMassachusetts General Hospital
AddressMassachusetts General Hospital
Rm 6212
149 13th Street
Charlestown MA 02129
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Collapse Research 
Collapse research activities and funding
The research activities and funding listed below are automatically derived from NIH ExPORTER and other sources, which might result in incorrect or missing items. Faculty can login to make corrections and additions.
R01NS082331     (EICHLER, FLORIAN S)Sep 1, 2013 - May 31, 2017
Safety, Tolerability and Biological Activity of L-serine in HSAN1.
Role: Principal Investigator

R01FD004127     (EICHLER, FLORIAN S)Sep 14, 2012 - Aug 31, 2017
Phase 2 Study of L-Serine in HSN Type 1
Role: Principal Investigator

R01NS072446     (EICHLER, FLORIAN S)Mar 15, 2011 - Feb 28, 2016
The Role of Desoxysphingoid Bases in HSAN1
Role: Principal Investigator

K08NS052550     (EICHLER, FLORIAN S)Jun 1, 2006 - Aug 31, 2011
Imaging the Pathophysiology of AMN in Mice and Humans
Role: Principal Investigator

P41RR010888     (COSTELLO, CATHERINE E.)Jul 1, 1996 - Aug 9, 2012
Role: Co-Principal Investigator

Collapse Bibliographic 
Collapse selected publications
Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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  1. Adang LA, Sherbini O, Ball L, Bloom M, Darbari A, Amartino H, DiVito D, Eichler F, Escolar M, Evans SH, Fatemi A, Fraser J, Hollowell L, Jaffe N, Joseph C, Karpinski M, Keller S, Maddock R, Mancilla E, McClary B, Mertz J, Morgart K, Langan T, Leventer R, Parikh S, Pizzino A, Prange E, Renaud DL, Rizzo W, Shapiro J, Suhr D, Suhr T, Tonduti D, Waggoner J, Waldman A, Wolf NI, Zerem A, Bonkowsky JL, Bernard G, van Haren K, Vanderver A. Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies. Mol Genet Metab. 2017 Aug 20. PMID: 28863857.
    View in: PubMed
  2. Eichler FS, Cox TM, Crombez E, Dali CÍ, Kohlschütter A. Metachromatic Leukodystrophy: An Assessment of Disease Burden. J Child Neurol. 2016 Nov; 31(13):1457-1463. PMID: 27389394.
    View in: PubMed
  3. Mukerji SS, Eichler FS. Teaching NeuroImages: Vanishing white matter ovarioleukodystrophy. Neurology. 2016 Jun 14; 86(24):e248. PMID: 27298454; PMCID: PMC4909551 [Available on 06/14/17].
  4. Eichler FS, Li J, Guo Y, Caruso PA, Bjonnes AC, Pan J, Booker JK, Lane JM, Tare A, Vlasac I, Hakonarson H, Gusella JF, Zhang J, Keating BJ, Saxena R. CSF1R mosaicism in a family with hereditary diffuse leukoencephalopathy with spheroids. Brain. 2016 Jun; 139(Pt 6):1666-72. PMID: 27190017; PMCID: PMC4892751 [Available on 06/01/17].
  5. Eichler F, Ratai E, Carroll JJ, Masdeu JC. Inherited or acquired metabolic disorders. Handb Clin Neurol. 2016; 135:603-36. PMID: 27432685.
    View in: PubMed
  6. Stockler-Ipsiroglu S, Apatean D, Battini R, DeBrosse S, Dessoffy K, Edvardson S, Eichler F, Johnston K, Koeller DM, Nouioua S, Tazir M, Verma A, Dowling MD, Wierenga KJ, Wierenga AM, Zhang V, Wong LJ. Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide. Mol Genet Metab. 2015 Dec; 116(4):252-9. PMID: 26490222.
    View in: PubMed
  7. Jun BK, Chandra A, Kuljis D, Schmidt BP, Eichler FS. Substrate Availability of Mutant SPT Alters Neuronal Branching and Growth Cone Dynamics in Dorsal Root Ganglia. J Neurosci. 2015 Oct 07; 35(40):13713-9. PMID: 26446223; PMCID: PMC4595622.
  8. Musolino PL, Gong Y, Snyder JM, Jimenez S, Lok J, Lo EH, Moser AB, Grabowski EF, Frosch MP, Eichler FS. Brain endothelial dysfunction in cerebral adrenoleukodystrophy. Brain. 2015 Nov; 138(Pt 11):3206-20. PMID: 26377633; PMCID: PMC4731416 [Available on 11/01/16].
  9. Wiesinger C, Eichler FS, Berger J. The genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosis. Appl Clin Genet. 2015; 8:109-21. PMID: 25999754; PMCID: PMC4427263.
  10. Fridman V, Oaklander AL, David WS, Johnson EA, Pan J, Novak P, Brown RH, Eichler FS. Natural history and biomarkers in hereditary sensory neuropathy type 1. Muscle Nerve. 2015 Apr; 51(4):489-95. PMID: 25042817; PMCID: PMC4484799.
  11. Helman G, Van Haren K, Bonkowsky JL, Bernard G, Pizzino A, Braverman N, Suhr D, Patterson MC, Ali Fatemi S, Leonard J, van der Knaap MS, Back SA, Damiani S, Goldman SA, Takanohashi A, Petryniak M, Rowitch D, Messing A, Wrabetz L, Schiffmann R, Eichler F, Escolar ML, Vanderver A. Disease specific therapies in leukodystrophies and leukoencephalopathies. Mol Genet Metab. 2015 Apr; 114(4):527-36. PMID: 25684057; PMCID: PMC4390468.
  12. Vanderver A, Prust M, Tonduti D, Mochel F, Hussey HM, Helman G, Garbern J, Eichler F, Labauge P, Aubourg P, Rodriguez D, Patterson MC, Van Hove JL, Schmidt J, Wolf NI, Boespflug-Tanguy O, Schiffmann R, van der Knaap MS. Case definition and classification of leukodystrophies and leukoencephalopathies. Mol Genet Metab. 2015 Apr; 114(4):494-500. PMID: 25649058; PMCID: PMC4390457.
  13. Gong Y, Mu D, Prabhakar S, Moser A, Musolino P, Ren J, Breakefield XO, Maguire CA, Eichler FS. Adenoassociated virus serotype 9-mediated gene therapy for x-linked adrenoleukodystrophy. Mol Ther. 2015 May; 23(5):824-34. PMID: 25592337; PMCID: PMC4427888 [Available on 05/01/16].
  14. Wei N, Pan J, Pop-Busui R, Othman A, Alecu I, Hornemann T, Eichler FS. Altered sphingoid base profiles in type 1 compared to type 2 diabetes. Lipids Health Dis. 2014 Oct 11; 13:161. PMID: 25305670; PMCID: PMC4271467.
  15. Krishnamoorthy KS, Eichler F, Rapalino O, Frosch MP. Case records of the Massachusetts General Hospital. Case 14-2014. An 11-month-old girl with developmental delay. N Engl J Med. 2014 May 08; 370(19):1830-41. PMID: 24806163.
    View in: PubMed
  16. Musolino PL, Lund TC, Pan J, Escolar ML, Paker AM, Duncan CN, Eichler FS. Hematopoietic stem cell transplantation in the leukodystrophies: a systematic review of the literature. Neuropediatrics. 2014 Jun; 45(3):e1. PMID: 24515842.
    View in: PubMed
  17. Musolino PL, Lund TC, Pan J, Escolar ML, Paker AM, Duncan CN, Eichler FS. Hematopoietic stem cell transplantation in the leukodystrophies: a systematic review of the literature. Neuropediatrics. 2014 Jun; 45(3):169-74. PMID: 24459069; PMCID: PMC4157669.
  18. Berger J, Forss-Petter S, Eichler FS. Pathophysiology of X-linked adrenoleukodystrophy. Biochimie. 2014 Mar; 98:135-42. PMID: 24316281; PMCID: PMC3988840.
  19. Musolino PL, Rapalino O, Caruso P, Caviness VS, Eichler FS. Hypoperfusion predicts lesion progression in cerebral X-linked adrenoleukodystrophy. Brain. 2012 Sep; 135(Pt 9):2676-83. PMID: 22961546; PMCID: PMC3437030.
  20. Friedman J, Roze E, Abdenur JE, Chang R, Gasperini S, Saletti V, Wali GM, Eiroa H, Neville B, Felice A, Parascandalo R, Zafeiriou DI, Arrabal-Fernandez L, Dill P, Eichler FS, Echenne B, Gutierrez-Solana LG, Hoffmann GF, Hyland K, Kusmierska K, Tijssen MA, Lutz T, Mazzuca M, Penzien J, Poll-The BT, Sykut-Cegielska J, Szymanska K, Thöny B, Blau N. Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy. Ann Neurol. 2012 Apr; 71(4):520-30. PMID: 22522443.
    View in: PubMed
  21. Horvath GA, Eichler F, Poskitt K, Stockler-Ipsiroglu S. Failure of repeated cyclophosphamide pulse therapy in childhood cerebral X-linked adrenoleukodystrophy. Neuropediatrics. 2012 Feb; 43(1):48-52. PMID: 22430161.
    View in: PubMed
  22. Garofalo K, Penno A, Schmidt BP, Lee HJ, Frosch MP, von Eckardstein A, Brown RH, Hornemann T, Eichler FS. Oral L-serine supplementation reduces production of neurotoxic deoxysphingolipids in mice and humans with hereditary sensory autonomic neuropathy type 1. J Clin Invest. 2011 Dec; 121(12):4735-45. PMID: 22045570; PMCID: PMC3225995.
  23. Bley AE, Giannikopoulos OA, Hayden D, Kubilus K, Tifft CJ, Eichler FS. Natural history of infantile G(M2) gangliosidosis. Pediatrics. 2011 Nov; 128(5):e1233-41. PMID: 22025593; PMCID: PMC3208966.
  24. Kohlschütter A, Eichler F. Childhood leukodystrophies: a clinical perspective. Expert Rev Neurother. 2011 Oct; 11(10):1485-96. PMID: 21955203.
    View in: PubMed
  25. Thibert R, Hyland K, Chiles J, Steinberg S, Eichler F. Levodopa response reveals sepiapterin reductase deficiency in a female heterozygote with adrenoleukodystrophy. JIMD Rep. 2012; 3:79-82. PMID: 23430877; PMCID: PMC3509860.
  26. Gerald Raymond, Florian Eichler, Sakkubai Naidu. Leukodystrophies. 2011.
  27. Krishnamoorthy KS, Eichler FS, Goyal NA, Small JE, Snuderl M. A 5-month-old boy with developmental delay and irritability. N Engl J Med. 2010; 362(4):346-56.
  28. Krishnamoorthy KS, Eichler FS, Goyal NA, Small JE, Snuderl M. Case records of the Massachusetts General Hospital. Case 3-2010. A 5-month-old boy with developmental delay and irritability. N Engl J Med. 2010 Jan 28; 362(4):346-56. PMID: 20107221.
    View in: PubMed
  29. Penno A, Reilly MM, Houlden H, Laurá M, Rentsch K, Niederkofler V, Stoeckli ET, Nicholson G, Eichler F, Brown RH, von Eckardstein A, Hornemann T. Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids. J Biol Chem. 2010 Apr 09; 285(15):11178-87. PMID: 20097765; PMCID: PMC2856995.
  30. Mahmood A, Berry J, Wenger DA, Escolar M, Sobeih M, Raymond G, Eichler FS. Metachromatic leukodystrophy: a case of triplets with the late infantile variant and a systematic review of the literature. J Child Neurol. 2010 May; 25(5):572-80. PMID: 20038527; PMCID: PMC4301611.
  31. Eichler FS, Hornemann T, McCampbell A, Kuljis D, Penno A, Vardeh D, Tamrazian E, Garofalo K, Lee HJ, Kini L, Selig M, Frosch M, Gable K, von Eckardstein A, Woolf CJ, Guan G, Harmon JM, Dunn TM, Brown RH. Overexpression of the wild-type SPT1 subunit lowers desoxysphingolipid levels and rescues the phenotype of HSAN1. J Neurosci. 2009 Nov 18; 29(46):14646-51. PMID: 19923297; PMCID: PMC3849752.
  32. Costello DJ, Eichler AF, Eichler FS. Leukodystrophies: classification, diagnosis, and treatment. Neurologist. 2009 Nov; 15(6):319-28. PMID: 19901710.
    View in: PubMed
  33. Eichler F, Grodd W, Grant E, Sessa M, Biffi A, Bley A, Kohlschuetter A, Loes DJ, Kraegeloh-Mann I. Metachromatic leukodystrophy: a scoring system for brain MR imaging observations. AJNR Am J Neuroradiol. 2009 Nov; 30(10):1893-7. PMID: 19797797.
    View in: PubMed
  34. Han G, Gupta SD, Gable K, Niranjanakumari S, Moitra P, Eichler FS, Brown RH, Harmon J, Dunn TM. Identification of small subunits of serine palmitoyltransferase: multiple SPT isozymes with distinct substrate specificities. PNAS. 2009; 106(20):8186-91.
  35. Han G, Gupta SD, Gable K, Niranjanakumari S, Moitra P, Eichler F, Brown RH, Harmon JM, Dunn TM. Identification of small subunits of mammalian serine palmitoyltransferase that confer distinct acyl-CoA substrate specificities. Proc Natl Acad Sci U S A. 2009 May 19; 106(20):8186-91. PMID: 19416851; PMCID: PMC2688822.
  36. Costello DJ, Eichler FS, Grant PE, Auluck PK . A 57-year-old man with progressive neurologic decline. NEJM. 2009; 360(2):171-81.
  37. Costello DJ, Eichler FS, Grant PE, Auluck PK. Case records of the Massachusetts General Hospital. Case 1-2009. A 57-year-old man with progressive cognitive decline. N Engl J Med. 2009 Jan 08; 360(2):171-81. PMID: 19129531.
    View in: PubMed
  38. Eichler F, Grodd W, Grant E, Sessa M, Biffi A, Bley A, Bley A, Kohlschuetter A, Kraegeloh-Mann I. Metachromatic Leukodystrophy: A Scoring System for Brain MR Observations. AJNR. 2009; 30(10):1893-7.
  39. Ratai E, Kok T, Wiggins C, Wiggins G, Grant E, Gagoski B, O'Neill G, Adalsteinsson E, Eichler F. Seven-Tesla proton magnetic resonance spectroscopic imaging in adult X-linked adrenoleukodystrophy. Arch Neurol. 2008 Nov; 65(11):1488-94. PMID: 19001168; PMCID: PMC2829763.
  40. Schmahmann JD, Smith EE, Eichler FS, Filley CM. Cerebral white matter: neuroanatomy, clinical neurology, and neurobehavioral correlates. Ann N Y Acad Sci. 2008 Oct; 1142:266-309. PMID: 18990132; PMCID: PMC3753195.
  41. Eichler FS, Ren JQ, Cossoy M, Rietsch AM, Nagpal S, Moser AB, Frosch MP, Ransohoff RM. Is microglial apoptosis an early pathogenic change in cerebral X-linked adrenoleukodystrophy? Ann Neurol. 2008 Jun; 63(6):729-42. PMID: 18571777.
    View in: PubMed
  42. Charnas L, Eichler F, Kohlschuetter A, Tolar J, Orchard PJ. Reply to: Reduced intensity conditioning haematopoietic stem cell transplantation with mesenchymal stromal cells infusion for the treatment of metachromatic leukodystrophy: a case report. Haematologica 2008; 93:e11-13. Haematologica. 2008 May; 93(5):e47; author reply e48. PMID: 18450730.
    View in: PubMed
  43. Moll NM, Rietsch AM, Ransohoff AJ, Cossoy MB, Huang D, Eichler FS, Trapp BD, Ransohoff RM. Cortical demyelination in PML and MS: Similarities and differences. Neurology. 2008 Jan 29; 70(5):336-43. PMID: 17914063.
    View in: PubMed
  44. Eichler F, Krishnamoorthy K, Grant PE. Magnetic resonance imaging evaluation of possible neonatal sinovenous thrombosis. Pediatr Neurol. 2007 Nov; 37(5):317-23. PMID: 17950416.
    View in: PubMed
  45. Eichler F, Van Haren K. Immune response in leukodystrophies. Pediatr Neurol. 2007 Oct; 37(4):235-44. PMID: 17903666.
    View in: PubMed
  46. Eichler F, Mahmood A, Loes D, Bezman L, Lin D, Moser HW, Raymond GV. Magnetic resonance imaging detection of lesion progression in adult patients with X-linked adrenoleukodystrophy. Arch Neurol. 2007 May; 64(5):659-64. PMID: 17502464.
    View in: PubMed
  47. Liu CH, Kim YR, Ren JQ, Eichler F, Rosen BR, Liu PK. Imaging cerebral gene transcripts in live animals. J Neurosci. 2007 Jan 17; 27(3):713-22. PMID: 17234603; PMCID: PMC2647966.
  48. Liu CH, Kim YR, Ren JQ, Eichler F, Rosen BR, Liu PK. Imaging cerebral gene transcripts in live animals. Journal of Neuroscience. 2007; 27(3):713-22.
  49. Eichler F, Tan WH, Shih VE, Grant PE, Krishnamoorthy K. Proton magnetic resonance spectroscopy and diffusion-weighted imaging in isolated sulfite oxidase deficiency. J Child Neurol. 2006 Sep; 21(9):801-5. PMID: 16970890.
    View in: PubMed
  50. Smith EE, Eichler F. Cerebral amyloid angiopathy and lobar intracerebral hemorrhage. Arch Neurol. 2006 Jan; 63(1):148-51. PMID: 16401753.
    View in: PubMed
  51. Tan WH, Eichler FS, Hoda S, Lee MS, Baris H, Hanley CA, Grant PE, Krishnamoorthy KS, Shih VE. Isolated sulfite oxidase deficiency: a case report with a novel mutation and review of the literature. Pediatrics. 2005 Sep; 116(3):757-66. PMID: 16140720.
    View in: PubMed
  52. Eichler FS, Itoh R, Barker PB, Mori S, Garrett ES, van Zijl PC, Moser HW, Raymond GV, Melhem ER. Proton MR spectroscopic and diffusion tensor brain MR imaging in X-linked adrenoleukodystrophy: initial experience. Radiology. 2002 Oct; 225(1):245-52. PMID: 12355012.
    View in: PubMed
  53. Kurz H, Neunteufl R, Eichler F, Urschitz M, Tiefenthaler M. Does professional counseling improve infant home monitoring? Evaluation of an intensive instruction program for families using home monitoring on their babies. Wien Klin Wochenschr. 2002 Sep 30; 114(17-18):801-6. PMID: 12416288.
    View in: PubMed
  54. Eichler FS, Wang P, Wityk RJ, Beauchamp NJ, Barker PB. Diffuse metabolic abnormalities in reversible posterior leukoencephalopathy syndrome. AJNR Am J Neuroradiol. 2002 May; 23(5):833-7. PMID: 12006287.
    View in: PubMed
  55. Eichler FS, Barker PB, Cox C, Edwin D, Ulug AM, Moser HW, Raymond GV. Proton MR spectroscopic imaging predicts lesion progression on MRI in X-linked adrenoleukodystrophy. Neurology. 2002 Mar 26; 58(6):901-7. PMID: 11914405.
    View in: PubMed
  56. Eichler F, Ipsiroglu O, Arif T, Popow C, Heinzl H, Urschitz M, Pollak A. Position dependent changes of cerebral blood flow velocities in premature infants. Eur J Pediatr. 2001 Oct; 160(10):633-9. PMID: 11686511.
    View in: PubMed
  57. Ito R, Melhem ER, Mori S, Eichler FS, Raymond GV, Moser HW. Diffusion tensor brain MR imaging in X-linked cerebral adrenoleukodystrophy. Neurology. 2001 Feb 27; 56(4):544-7. PMID: 11222805.
    View in: PubMed
  58. Urschitz MS, Eichler F, Popow C, Ipsiroglu OS. [Evaluation of the cardiorespiratory monitor SpiroGuard C for infants. Improved registration of respiratory events by new sensors and intelligent alarm management system]. Wien Klin Wochenschr. 2000 Mar 10; 112(5):226-33. PMID: 10763536.
    View in: PubMed
  59. Ipsiroglu OS, Eichler F, Stoeckler-Ipsiroglu S. Cerebral Doppler sonography of the neonate. A résumé after 20 years and future aspects. Clin Perinatol. 1999 Dec; 26(4):905-46. PMID: 10572729.
    View in: PubMed
  60. Ipsiroglu OS, Eichler F, Stoeckler-Ipsiroglu S. Cerebral Doppler sonography of the neonate. A resume after 20 years and future aspects. . Clinics of Perinatology. 1999; 26(4):905-46.
  61. Ipsiroglu OS, Eichler F, Stöckler-Ipsiroglu S, Trattnig S. Cerebral blood flow velocities in an infant with moyamoya disease. Pediatr Neurol. 1999 Oct; 21(4):739-41. PMID: 10580888.
    View in: PubMed
  62. Kurtz JE, Deplanque G, Duclos B, Eichler F, Giron C, Limacher JM, Herbrecht R, Maloisel F, Oberling F, Bergerat JP, Dufour P. Paclitaxel-anthracycline combination chemotherapy in relapsing advanced ovarian cancer after platinum-based chemotherapy: a pilot study. Gynecol Oncol. 1998 Sep; 70(3):414-7. PMID: 9790797.
    View in: PubMed
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