Research Investigator Profile

Florian S. Eichler, MD photo

Florian S. Eichler, MD

Associate Professor of Neurology,
Harvard Medical School

Assistant in Neurology,
Massachusetts General Hospital

Director, Leukodystrophy Clinic

Director, Center for Rare Neurological Diseases


Research Description

Dr. Eichler studies monogenetic lipid metabolism disorders of the nervous system at the Massachusetts General Hospital and Harvard Medical School. Specifically, his research focuses on the genetics of peroxisomal disorders, lipid metabolism, and spatial aspects of nuclear magnetic resonance spectroscopy. Current projects include studies to analyze metabolic changes seen in the brain by MR measures, and to determine the neurotoxicity of newly discovered atypical sphingolipids. Read more on Dr. Eichler 's Lab site.


Research interests Sphingolipids, Very Long Chain Fatty Acids, Gangliosides, spatial aspects of nuclear magnetic resonance spectroscopy
Research techniques In vitro and in vivo genetic models, Immune fluorescence microscopy, nuclear magnetic resonance spectroscopy
Diseases studied Leukodystrophy, adrenoleukodystrophy, white matter diseases
Selected publications


  1. Eichler F, Tan WH, Shih VS et al. Proton MR Spectroscopy and Diffusion Weighted Imaging in Isolated Sulfite Oxidase Deficiency. Journal of Child Neurology 2006; 21:801-805.
  2. Eichler FS, Ren JQ, Cossoy M, et al. Is microglial apoptosis an early pathogenic change in cerebral X-ALD? Annals of Neurology. 2008; 63(6):729-42.
  3. Ratai E, Kok T, Wiggins C, Wiggins G, Grant E, Gagoski B, O'Neill G, Adalsteinsson E, Eichler FS. 7 Tesla proton magnetic resonance spectroscopic imaging in adult X-linked adrenoleukodystrophy. Archives of Neurology. 2008; 65(11):1488-94.
  4. Eichler F, Grodd W, Grant E, et al. Metachromatic Leukodystrophy: A Scoring System for Brain MR Observations. AJNR Am J Neuroradiol.  AJNR Am J Neuroradiol. 2009; 30(10):1893-7.
  5. Eichler FS, Hornemann T, McCampbell A, et al.  Overexpression of the wild-type SPT1 subunit lowers desoxysphingolipids levels and rescues the phenotype of HSAN1. J Neurosci. 2009; 29(46):14646-51.
NCBI PubMed link

NCBI PubMed Publications - Eichler, FS

NCBI PubMed Publications - Eichler, F


A randomized, double-blind, placebo-controlled, cross-over study to evaluate the efficacy of
L-serine in subjects with hereditary sensory and autonomic neuropathy type 1

Lab mailing address Massachusetts General Hospital
Department of Neurology
55 Fruit Street
Boston, MA 02110
Clinical interests Leukodystrophy, adrenoleukodystrophy, white matter disease, neurodegeneration, clinical studies, general neurology
Clinical address Massachusetts General Hospital
Neurology, Suite 835
Wang Ambulatory Care Center
55 Fruit Street
Boston, MA 02114 USA
Clinical website address

Leukodystrophy Service

General Pediatric Neurology


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