Florian S Eichler

Summary

Affiliation: Massachusetts General Hospital
Country: USA

Publications

  1. ncbi request reprint Proton MR spectroscopic and diffusion tensor brain MR imaging in X-linked adrenoleukodystrophy: initial experience
    Florian S Eichler
    F M Kirby Research Center for Functional Brain Imaging, Johns Hopkins University, Baltimore, MD, USA
    Radiology 225:245-52. 2002
  2. pmc Hypoperfusion predicts lesion progression in cerebral X-linked adrenoleukodystrophy
    Patricia Leonor Musolino
    Department of Neurology, Massachusetts General Hospital, 55 Fruit Street, Boston, MA 02114, USA
    Brain 135:2676-83. 2012
  3. doi request reprint Metachromatic leukodystrophy: a scoring system for brain MR imaging observations
    F Eichler
    Department of Neurology, Massachusetts General Hospital, Boston, MA, USA
    AJNR Am J Neuroradiol 30:1893-7. 2009
  4. doi request reprint Overexpression of the wild-type SPT1 subunit lowers desoxysphingolipid levels and rescues the phenotype of HSAN1
    Florian S Eichler
    Massachusetts General Hospital Neuroscience Center, Department of Neurology, Harvard Medical School, Boston, Massachusetts 02114, USA
    J Neurosci 29:14646-51. 2009
  5. doi request reprint Is microglial apoptosis an early pathogenic change in cerebral X-linked adrenoleukodystrophy?
    Florian S Eichler
    Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA
    Ann Neurol 63:729-42. 2008
  6. ncbi request reprint Immune response in leukodystrophies
    Florian Eichler
    Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA
    Pediatr Neurol 37:235-44. 2007
  7. pmc Oral L-serine supplementation reduces production of neurotoxic deoxysphingolipids in mice and humans with hereditary sensory autonomic neuropathy type 1
    Kevin Garofalo
    MGH Neuroscience Center, Department of Neurology, Harvard Medical School, Boston, Massachusetts, USA
    J Clin Invest 121:4735-45. 2011
  8. pmc Cerebral white matter: neuroanatomy, clinical neurology, and neurobehavioral correlates
    Jeremy D Schmahmann
    Ataxia Unit, Cognitive Behavioral Neurology Unit, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114, USA
    Ann N Y Acad Sci 1142:266-309. 2008
  9. ncbi request reprint Cerebral amyloid angiopathy and lobar intracerebral hemorrhage
    Eric E Smith
    Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA
    Arch Neurol 63:148-51. 2006
  10. pmc Natural history of infantile G(M2) gangliosidosis
    Annette E Bley
    Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA
    Pediatrics 128:e1233-41. 2011

Research Grants

Collaborators

  • Thorsten Hornemann
  • E E Smith
  • Hugo Moser
  • Gerald Raymond
  • P B Barker
  • Susumu Mori
  • Clifford J Woolf
  • Patricia Leonor Musolino
  • Kevin Garofalo
  • Annette E Bley
  • Daniel J Costello
  • Jeremy D Schmahmann
  • Eva Ratai
  • Otto Rapalino
  • Paul Caruso
  • Verne Strudwick Caviness
  • Ourania A Giannikopoulos
  • Robert H Brown
  • Ho Joon Lee
  • Kim Kubilus
  • Cynthia J Tifft
  • Brian P Schmidt
  • Doug Hayden
  • Matthew P Frosch
  • Arnold von Eckardstein
  • Anke Penno
  • April F Eichler
  • Graham Wiggins
  • Trina Kok
  • Christopher M Filley
  • Borjan Gagoski
  • Elfar Adalsteinsson
  • GILMORE O'NEILL
  • Ellen Grant
  • Christopher Wiggins

Detail Information

Publications14

  1. ncbi request reprint Proton MR spectroscopic and diffusion tensor brain MR imaging in X-linked adrenoleukodystrophy: initial experience
    Florian S Eichler
    F M Kirby Research Center for Functional Brain Imaging, Johns Hopkins University, Baltimore, MD, USA
    Radiology 225:245-52. 2002
    ..To compare conventional magnetic resonance (MR) imaging, proton MR spectroscopic imaging, and diffusion tensor (DT) MR imaging findings in patients with X chromosome-linked adrenoleukodystrophy (X-ALD)...
  2. pmc Hypoperfusion predicts lesion progression in cerebral X-linked adrenoleukodystrophy
    Patricia Leonor Musolino
    Department of Neurology, Massachusetts General Hospital, 55 Fruit Street, Boston, MA 02114, USA
    Brain 135:2676-83. 2012
    ..Our data indicate that decreased brain magnetic resonance perfusion precedes leakage of the blood-brain barrier as demonstrated by contrast enhancement in cerebral adrenoleukodystrophy and is an early sign of lesion progression...
  3. doi request reprint Metachromatic leukodystrophy: a scoring system for brain MR imaging observations
    F Eichler
    Department of Neurology, Massachusetts General Hospital, Boston, MA, USA
    AJNR Am J Neuroradiol 30:1893-7. 2009
    ..Metachromatic leukodystrophy (MLD) is a devastating demyelinating disease for which novel therapies are being tested. We hypothesized that MR imaging of brain lesion involvement in MLD could be quantified along a scale...
  4. doi request reprint Overexpression of the wild-type SPT1 subunit lowers desoxysphingolipid levels and rescues the phenotype of HSAN1
    Florian S Eichler
    Massachusetts General Hospital Neuroscience Center, Department of Neurology, Harvard Medical School, Boston, Massachusetts 02114, USA
    J Neurosci 29:14646-51. 2009
    ..This observation is consistent with the hypothesis that HSAN1 is the result of a gain-of-function mutation in SPTLC1 that leads to accumulation of a toxic metabolite...
  5. doi request reprint Is microglial apoptosis an early pathogenic change in cerebral X-linked adrenoleukodystrophy?
    Florian S Eichler
    Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA
    Ann Neurol 63:729-42. 2008
    ..In humans, the genetic defect causes progressive inflammatory demyelination in the brain, where very-long-chain fatty acids accumulate within phospholipid fractions such as lysophosphatidylcholine...
  6. ncbi request reprint Immune response in leukodystrophies
    Florian Eichler
    Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA
    Pediatr Neurol 37:235-44. 2007
    ..Future studies may delineate specific inflammatory markers as possible candidates for therapeutic intervention...
  7. pmc Oral L-serine supplementation reduces production of neurotoxic deoxysphingolipids in mice and humans with hereditary sensory autonomic neuropathy type 1
    Kevin Garofalo
    MGH Neuroscience Center, Department of Neurology, Harvard Medical School, Boston, Massachusetts, USA
    J Clin Invest 121:4735-45. 2011
    ..These observations support the hypothesis that an altered substrate selectivity of the mutant SPT is key to the pathophysiology of HSAN1 and raise the prospect of l-serine supplementation as a first treatment option for this disorder...
  8. pmc Cerebral white matter: neuroanatomy, clinical neurology, and neurobehavioral correlates
    Jeremy D Schmahmann
    Ataxia Unit, Cognitive Behavioral Neurology Unit, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114, USA
    Ann N Y Acad Sci 1142:266-309. 2008
    ....
  9. ncbi request reprint Cerebral amyloid angiopathy and lobar intracerebral hemorrhage
    Eric E Smith
    Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA
    Arch Neurol 63:148-51. 2006
  10. pmc Natural history of infantile G(M2) gangliosidosis
    Annette E Bley
    Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA
    Pediatrics 128:e1233-41. 2011
    ..We set out to quantify the rate of functional decline in infantile G(M2) gangliosidosis on the basis of patient surveys and a comprehensive review of existing literature...
  11. doi request reprint Leukodystrophies: classification, diagnosis, and treatment
    Daniel J Costello
    Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA
    Neurologist 15:319-28. 2009
    ..Recent advances in the diagnosis and treatment of certain forms of leukodystrophy should prompt increased awareness of these diseases in clinical practice...
  12. pmc Seven-Tesla proton magnetic resonance spectroscopic imaging in adult X-linked adrenoleukodystrophy
    Eva Ratai
    Department of Radiology, Massachusetts General Hospital, Boston, MA 02114, USA
    Arch Neurol 65:1488-94. 2008
    ..Phenotypes vary in their pathology, ranging from axonal degeneration to inflammatory demyelination. The severity of symptoms is poorly explained by conventional imaging...
  13. ncbi request reprint Magnetic resonance imaging detection of lesion progression in adult patients with X-linked adrenoleukodystrophy
    Florian Eichler
    Department of Neurology, Martinos Center for Biomedical Imaging, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA
    Arch Neurol 64:659-64. 2007
    ..An inherited disorder, X-linked adrenoleukodystrophy (X-ALD) is known to cause progressive inflammatory demyelination...
  14. ncbi request reprint Diffuse metabolic abnormalities in reversible posterior leukoencephalopathy syndrome
    Florian S Eichler
    Department of Neurogenetics, The Johns Hopkins University, Baltimore, MD, USA
    AJNR Am J Neuroradiol 23:833-7. 2002
    ..Proton MR spectroscopic imaging may be helpful for the diagnosis and investigation of the underlying pathophysiology of reversible posterior leukoencephalopathy syndrome...

Research Grants2

  1. Imaging the Pathophysiology of AMN in Mice and Humans
    Florian Eichler; Fiscal Year: 2007
    ..Ultimately, insights gained in these studies of ALD/AMN may prove beneficial to other neurodegenerative diseases, such as amyotrophic lateral sclerosis or Parkinson's and Alzheimer's diseases. ..