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The First Scientific Workshop of Hallervorden-Spatz Syndrome


The First Scientific Workshop of Hallervorden-Spatz Syndrome
Grant Number: NS40452-01
May 19 - 20, 2000
National Institute of Neurological Disorders & Stroke, Bethesda, Maryland

Principal Investigator: Susan J. Hayflick, MD

Organization Conducting Meeting: Hallervorden-Spatz Syndrome Association and Oregon Health Sciences University

 Friday, May 19, 2000

7:00 - 8:00AM Registration

8:00 - 8:15AM Opening Remarks

Section I - Chaired by Swaiman

8:15 - 9:45AM Session I - Clinical Delineation of HSS

  • Clinical features & natural history - Swaiman (60)
  • Data from International Patient Registry - Hayflick (30)

9:45 - 10:00AM Roundtable discussion

10:00 - 10:15AM Break

10:15 - 11:00AM Session II - Pathology of HSS

  • Neuropathology & Systemic pathology - Koeppen (45)

11:00 - 11:15AM Roundtable discussion

11:15 - 11:45PM Session III - Genetics of HSS

  • Mapping the gene(s) for HSS - Hayflick (15)
  • Candidate disease genes - Zhou (15)

11:45 - 12:00PM Roundtable discussion

12:00 - 1:00PM Lunch

Section II - Chaired by Rouault

1:00 - 1:45PM Session IV - Systemic Iron Transport and Metabolism

  • Normal iron transport and metabolism - Rouault (45)

1:45 - 3:05PM Session V - Brain Iron Transport and Metabolism

  • Normal brain iron metabolism and its regulation - Rouault (40)
  • Brain iron transporters - Connor (40)

3:05 - 3:30PM Roundtable discussion

3:30 - 3:45PM Break

3:45 - 4:45PM Session VI - The Basal Ganglia

  • Circuitry & Development - Mink (60)

4:45 - 5:00PM Roundtable discussion

6:00 - 7:00PM Opening Reception

7:00 - 8:30PM Dinner & Talk by Dr. Shevell

  • "Julius Hallervorden's War-time Activities: Implications for Science in a Dictatorship"

 Saturday, May 20, 2000

7:00 - 8:00AM Registration

Section III - Chaired by Hayflick

8:00 - 8:45AM Session VII - Overlap of HSS and Related Neurodegenerative Disorders - Clues to Pathogenesis?

  • Aceruloplasminemia - Harris (30)
  • Iron chelation - Harris (15)

8:45 - 9:00AM Roundtable discussion

9:00 - 10:00AM Session VIII - Hypotheses of HSS Pathogenesis

  • Brain iron, lipid peroxidation and neurodegeneration - Qian (30)
  • GFAP-IL6 mouse - Castelnau (30)

10:00 - 10:15AM Roundtable discussion

10:15 - 10:30AM Break

10:30 - 11:00AM Session IX - Therapeutic Approaches

  • Pharmacologic palliation - Swaiman (15)
  • Nitric Oxide - Chiueh (15)

11:00 -11:30PM Roundtable discussion

11:30 - 12:00PM Session X - HSS Research

  • Priorities - Hayflick
  • Resources needed (cell & tissue repository, listserve, clinical database)

12:00 - 1:00PM Lunch

1:30 - 5:00PM Information Exchange: Families and Physicians/Scientists


This meeting marked the first time that investigators have met to discuss the current state of knowledge about HSS and to define resources needed and recommend directions for future research. Since few scientists currently study HSS, the meeting also had the goal of stimulating interest in the disorder among young investigators whose current work relates to HSS.

From the presentations a number of key issues became clear. HSS is a highly variable condition with evidence for locus heterogeneity. Existing clinical criteria do not delineate a genetically homogeneous disease. Data from the International Registry of Patients with Hallervorden-Spatz Syndrome and Related Disorders indicate that disease can be best delineated based on clinical, radiographic and genetic features. Participants recommended studies to determine whether a phenotype exists outside of the central nervous system. Reports of ceroid laden bone marrow macrophages raise this question; however, this feature is not found in all patients with classical HSS. Complete delineation of the HSS phenotype as well as functional MRI studies of brains of people affected by HSS may contribute understanding to the pathophysiology of this disease.

Among the first recommendations from this meeting is the need to identify and investigate the major genes that cause HSS and related disorders. Once the major gene is identified, the development of an animal model with HSS will enable scientists from many disciplines and throughout the world to study HSS. Broad research questions that would benefit the study of HSS include delineating the role of iron in the central nervous system and, as a corollary, the reason for its differential distribution in brain. The participants recommended targeted funding in order to attract more scientists into HSS research

Workshop participants agreed that the most important resource needed to advance research on HSS is brain tissue from affected individuals. Most published studies on HSS brain predate modern techniques to prevent leaching of iron from tissue and maintain iron in its biological oxidation state. Furthermore, clinical descriptions have been limited, thus confounding an accurate diagnosis. Studies are needed to accurately document the pathologic changes that occur in classical HSS and related disorders. Tissue must be handled by experienced pathologists who can plan ahead to prepare the samples to maximize their potential for use in investigation. Unfortunately, most brain samples that have been collected in the past from patients with HSS who have died are not able to be used for the needed studies. Participants recommended working with existing brain banks to obtain and process tissue. However, concern was raised about the mechanisms currently in place to ascertain and handle HSS brain tissue for iron studies and other uncommon studies. The recommendation was made to ask the brain banks to delineate techniques for handling brain that would enable these types of studies. These methods must be established and widely disseminated to all participating sites. Tissue other than brain is also needed for research.

Meeting participants voiced an interest in exploring new drug therapies, including free radical scavengers and chelators that target the CNS. At the same time, the group felt that surgical therapies had been discouraging in most patients with HSS. Further studies are needed to confirm this observation.

The NIH sponsored workshop was held in conjunction with the first Hallervorden-Spatz Syndrome Association family meeting in Bethesda. The coordinated organization of these meetings enabled a valuable information exchange between scientists and families.

Proceedings of the Scientific Workshop are currently in review through the journal Pediatric Neurology. Upon publication, they will be widely disseminated.

Specific Recommendations:

  • delineate all clinical features of HSS, with attention to the existence of systemic signs
  • request that brain banks develop techniques for handling brain to enable state of the art iron studies
  • establish a means to obtain HSS tissue other than brain for research
  • identify and investigate the major genes that cause HSS and related disorders
  • delineate the role of iron in the central nervous system
  • determine the reason and mechanisms for differential distribution of iron in brain
  • provide targeted funding in order to attract more scientists to HSS research


Greg Anderson, PhD
The Queensland Institute of Medical Research

Pierre Castelnau, MD, PhD
Hopital Robert Debre

Chuang C. Chiueh, PhD
NIMH, Laboratory of Clinical Sciences

James Conner, PhD
Pennsylvania State Univ. College of Medicine

Adriana Donovan, PhD
Children's Hospital
Howard Hughes Medical Institute

Elizabeth Dooling, MD
Massachusetts General Hospital

Debbie Forstall
Secretary, Hallervorden-Spatz Syndrome Association

Jane Gitschier, PhD
Howard Hughes Medical Institute
University of California, San Francisco

Mark Hallett, MD
National Institutes of Health

Z. Leah Harris, MD
Washington University School of Medicine

Donald Harter, MD
Howard Hughes Medical Institute

Susan J. Hayflick, MD
Oregon Health Sciences University

Monique Johnson, PhD
Oregon Health Sciences University

David Koeller, MD
University of Colorado Health Sciences Center

Arnulf Koeppen, MD
VA Medical Center, Albany

Steve LeVine, PhD
University of Kansas Medical Center

Barbara Levinson
University of California, San Francisco

Kris McGourthy
Hallervorden-Spatz Syndrome Association

Michael McGourthy
Hallervorden-Spatz Syndrome Association

Jonathan Mink, MD
Washington University School of Medicine

Torben Moos, MD
The Panum Institute, University of Copenhagen

Nardo Nardocci, MD
Instituto Neurologico "C.Besta"

Massimo Pandolfo, MD
Centre Hospitalier de l"Universite de Montreal

Zhong Ming Qian, PhD
The Hong Kong Polytechnic University

Tracy Rouault, MD
Section on Human Iron Metabolism NICHD

Michael Shevell, MD, CM, FRCP
Montreal Children's Hospital

Leslie Shinobu, MD, PhD
Massachusetts General Hospital

Giovanna Spinella, MD

Kenneth Swaiman, MD
University of Minnesota Medical School

Christopher Vulpe, MD, PhD
University of California, Berkeley

Patricia Wood
President, Hallervorden-Spatz Syndrome Association

Shawn Westaway, PhD
Oregon Health Sciences University

Rob Wilson, MD, PhD
University of Pennsylvania Medical Center

Ke-Wei Zhao, PhD
UCLA School of Medicine

Bing Zhou, PhD
University of California, San Francisco


Last Modified April 15, 2011