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Florian Eichler, M.D.

TitleAssistant Professor of Neurology
InstitutionMassachusetts General Hospital
DepartmentNeurology
AddressMassachusetts General Hospital
Rm 6212
149 13th Street
Charlestown MA 02129
Phone617/726-6093
Fax617/724-7860

 Bibliographic 
 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. 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.
    View in: PubMed
  2. 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.
    View in: PubMed
  3. 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.
    View in: PubMed
  4. 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.
    View in: PubMed
  5. 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.
    View in: PubMed
  6. Kohlschütter A, Eichler F. Childhood leukodystrophies: a clinical perspective. Expert Rev Neurother. 2011 Oct; 11(10):1485-96.
    View in: PubMed
  7. 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.
    View in: PubMed
  8. Gerald Raymond, Florian Eichler, Sakkubai Naidu. Leukodystrophies. 2011.
  9. 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.
  10. 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.
    View in: PubMed
  11. 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 9; 285(15):11178-87.
    View in: PubMed
  12. 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.
    View in: PubMed
  13. 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.
    View in: PubMed
  14. Costello DJ, Eichler AF, Eichler FS. Leukodystrophies: classification, diagnosis, and treatment. Neurologist. 2009 Nov; 15(6):319-28.
    View in: PubMed
  15. 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.
    View in: PubMed
  16. 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.
  17. 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.
    View in: PubMed
  18. Costello DJ, Eichler FS, Grant PE, Auluck PK . A 57-year-old man with progressive neurologic decline. NEJM. 2009; 360(2):171-81.
  19. 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 8; 360(2):171-81.
    View in: PubMed
  20. 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.
  21. 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.
    View in: PubMed
  22. 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.
    View in: PubMed
  23. 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.
    View in: PubMed
  24. 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.
    View in: PubMed
  25. 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.
    View in: PubMed
  26. Eichler F, Krishnamoorthy K, Grant PE. Magnetic resonance imaging evaluation of possible neonatal sinovenous thrombosis. Pediatr Neurol. 2007 Nov; 37(5):317-23.
    View in: PubMed
  27. Eichler F, Van Haren K. Immune response in leukodystrophies. Pediatr Neurol. 2007 Oct; 37(4):235-44.
    View in: PubMed
  28. 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.
    View in: PubMed
  29. 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.
    View in: PubMed
  30. 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.
  31. 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.
    View in: PubMed
  32. Smith EE, Eichler F. Cerebral amyloid angiopathy and lobar intracerebral hemorrhage. Arch Neurol. 2006 Jan; 63(1):148-51.
    View in: PubMed
  33. 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.
    View in: PubMed
  34. 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.
    View in: PubMed
  35. 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.
    View in: PubMed
  36. 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.
    View in: PubMed
  37. 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.
    View in: PubMed
  38. 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.
    View in: PubMed
  39. 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.
    View in: PubMed
  40. 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.
    View in: PubMed
  41. 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.
    View in: PubMed
  42. 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.
  43. 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.
    View in: PubMed
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