Photo of Florian S. Eichler, MD

Florian S. Eichler, MD

  • Director of the Leukodystrophy Service


Accepting New Patients


As director of the Leukodystrophy Service at MGH I see patients with a variety of neurogenetic disorders and am actively studying abnormal accumulation of lipids in both my clinic and my laboratory.



Centers & Specialties

MassGeneral Hospital for Children

Clinical Interests
  • Neurogenetics
  • Developmental delays
  • White matter disease
  • Leukodystrophies
  • Hereditary peripheral neuropathies
  • Neurology
  • Pediatric Neurology
Medical Education
  • MD, University of Vienna School of Medicine
  • Residency, Brigham and Women's Hospital|Residency, Vienna General Hospital
Board Certifications
  • Neurology with Special Qualifications in Child Neurology
Foreign Languages
  • German
  • Spanish
  • Boston: Massachusetts General Hospital
Existing Patients
Patient Gateway
Insurances Accepted
  • Aetna Health Inc.
  • AllWays Health (NHP) - ACD
  • AllWays Health (NHP) - PBO
  • Beech Street
  • Blue Cross Blue Shield - Blue Care 65
  • Blue Cross Blue Shield - Indemnity
  • Blue Cross Blue Shield - Managed Care
  • Blue Cross Blue Shield - Partners Plus
  • BMC HealthNet Mass Health MCO/ACO
  • Cigna (PAL #'s)
  • Commonwealth Care Alliance
  • Fallon Community HealthCare
  • Great-West Healthcare (formally One Health Plan)
  • Harvard Pilgrim Health Plan - ACD
  • Harvard Pilgrim Health Plan - PBO
  • Health Care Value Management (HCVM)
  • Humana/Choice Care PPO
  • Maine Community Health Options (MCHO)
  • MassHealth
  • Medicare
  • Medicare - ACD
  • OSW - Connecticut
  • OSW - Maine
  • OSW - New Hampshire
  • OSW - New York
  • OSW - Rhode Island
  • OSW - Vermont
  • Private Health Care Systems (PHCS)
  • Senior Whole Health
  • TriCare
  • Tufts Health Plan
  • Unicare
  • United Healthcare (non-HMO) - ACD
  • United Healthcare (non-HMO) - PBO
  • Well Sense Pediatrics

Note: This provider may accept more insurance plans than shown; please call the practice to find out if your plan is accepted.

Patient Age Group
Pediatric and Adult
Provider Gender


Florian Eichler received his M.D. from the University of Vienna Medical School. After graduating from medical school in 1997, he entered residency in Pediatrics and pursued studies on cerebral blood flow and metabolism at the University of Vienna. In 1999 he won a scholarship to study in vivo MR spectroscopy in pediatric patients with metabolic and neurometabolic conditions at Johns Hopkins (Stipendium Metabolicum 1999) and joined the laboratory of Dr. Hugo Moser dedicated to peroxisomal disorders at the Kennedy Krieger Institute. Following his research fellowship at Johns Hopkins he underwent residency training in Child Neurology at the Massachusetts General Hospital (MGH). After completing residency in 2005 he joined the staff at MGH.

Now an Associate Professor of Neurology at Harvard Medical School he is extending his research into animal models of neurodegenerative disorders. His research focus is on the genetics of peroxisomal disorders, lipid metabolism, and spatial aspects of nuclear magnetic resonance spectroscopy. As director of the leukodystrophy clinic at the Massachusetts General Hospital he sees patients with a variety of white matter disorders. He currently holds several NIH awards funding studies to analyze metabolic changes seen in the brain by MR measures and to determine the neurotoxicity of newly discovered atypical sphingolipids.

Research & Publications

Research Summary

View my most recent research

My expertise lies in neurogenetics and translational neuroscience. The topic of my research is unraveling the disease mechanisms of monogenetic disorders affecting the nervous system. This allows my lab to explore the relationship of mutant genes to specific biochemical defects and their contribution to neurodegeneration. As director of the leukodystrophy service at MGH I see patients with a variety of neurogenetic disorders and am actively studying abnormal accumulation of lipids such as very long chain fatty acids and desoxysphingoid bases in both my clinic and my laboratory. My clinical research studies have defined disease progression in adrenoleukodystrophy, metachromatic leukodystrophy and Tay Sachs Disease. Recently we were able to show that levels of desoxysphingoid bases in mice and humans with an inherited form of neuropathy contribute to disease and can be lowered by supplementation with L-serine.

Eichler Lab



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.

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.

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.

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.

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.

News & Events

  • Gene therapy halts progression of childhood cerebral adrenoleukodystrophy in clinical trial

    In a recent clinical trial, a gene therapy to treat cerebral adrenoleukodystrophy (CALD) — a neurodegenerative disease that typically claims young boys' lives within 10 years of diagnosis — effectively stabilized the disease's progression in 88 percent of patients, researchers from the Dana-Farber/Boston Children's Cancer and Blood Disorders Center and Massachusetts General Hospital report today.

  • Teaming up to find treatments for rare diseases

    What is the fastest way to develop new treatments for patients with rare diseases? In a word, teamwork. That was the consensus that emerged from an hour-long panel discussion on rare disease research hosted by the Division of Clinical Research during Clinical Research Day Oct. 6.

  • In General

    MGH Hotline 09.11.09 In General awards and honors


Neuromuscular Diagnostic Center
165 Cambridge Street
Suite 820
Boston, MA 02114
Phone: 617-724-6510
Fax: 617-726-2019

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