Research Topics
| Florian S EichlerSummaryAffiliation: Massachusetts General Hospital Country: USA Publications
Research Grants
| Collaborators
|
Detail Information
Publications
Proton MR spectroscopic and diffusion tensor brain MR imaging in X-linked adrenoleukodystrophy: initial experienceFlorian S Eichler
F. M. Kirby Research Center for Functional Brain Imaging, Johns Hopkins University, Baltimore, MD, USA
Radiology 225:245-52. 2002....
Hypoperfusion predicts lesion progression in cerebral X-linked adrenoleukodystrophyPatricia 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...
Metachromatic leukodystrophy: a scoring system for brain MR imaging observationsF 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...- Overexpression of the wild-type SPT1 subunit lowers desoxysphingolipid levels and rescues the phenotype of HSAN1Florian 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... - 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... - Immune response in leukodystrophiesFlorian 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... - Oral L-serine supplementation reduces production of neurotoxic deoxysphingolipids in mice and humans with hereditary sensory autonomic neuropathy type 1Kevin 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... - Cerebral white matter: neuroanatomy, clinical neurology, and neurobehavioral correlatesJeremy 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.... - Cerebral amyloid angiopathy and lobar intracerebral hemorrhageEric E Smith
Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA
Arch Neurol 63:148-51. 2006 - Natural history of infantile G(M2) gangliosidosisAnnette 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... - Leukodystrophies: classification, diagnosis, and treatmentDaniel 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... - Seven-Tesla proton magnetic resonance spectroscopic imaging in adult X-linked adrenoleukodystrophyEva 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... - Magnetic resonance imaging detection of lesion progression in adult patients with X-linked adrenoleukodystrophyFlorian 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... - Diffuse metabolic abnormalities in reversible posterior leukoencephalopathy syndromeFlorian 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 Grants
- Imaging the Pathophysiology of AMN in Mice and HumansFlorian 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. ..