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Chiari type 1 malformation (CM1) occurs in the region where
the brain and the spinal cord join. In this disorder, the portion of
the brain called the cerebellum and/or brainstem lies lower than usual.
Often, a portion of the cerebellum called the cerebellar tonsils
protrudes out of the base of the skull into the spinal canal. This
protrusion causes pressure in the brain, contributing to the symptoms
people experience.
There are many symptoms associated
with CM1. These symptoms may include headaches, especially at the base of
the skull, dizziness, double vision, weakness in the arms, and/or
difficulty walking. When symptoms are present, they are often vague or
nonspecific. As a result, the diagnosis of CM1 is often delayed until
more severe symptoms present themselves or after milder symptoms persist
for some time.
Syringomyelia is a condition characterized by a fluid-filled
cyst in the spinal cord. In some instances, syringomyelia is caused
by an injury. However, there are also some cases that are
present at birth. Often, individuals with CM1 are also diagnosed with
syringomyelia.
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The Center for Human Genetics
is investigating the hereditary basis of Chiari type
I malformation with or without syringomyelia (CM1/S). Our research
is aimed at learning if CM1/S is indeed caused by factors
inherited through the family and, if so, which genes are involved.
The long-term goal is to find out how these genetic factors cause or
contribute to CM1/S, with the hope that this knowledge will lead to
improved diagnosis and more effective treatments.
Several lines of evidence point to a genetic contribution to CM1/S.
This evidence includes families with multiple individuals all diagnosed
with CM1/S. Observations of identical twins (genetically the same) have
shown that if one twin is diagnosed with CM1/S, the other twin often also
has CM1/S. Finally, CM1/S is known to co-occur with a number of different
genetic syndromes.
This research has been supported in part by grants from the National
Institutes of Health, Bobby Jones Open Fund, American Syringomyelia &
Chiari Alliance Project (ASAP), Chiari & Syringomyelia Foundation (CSF)
and Conquer Chiari.
CHG CM1/S Study Team
| Allison Ashley-Koch, PhD |
Co-Principal Investigator and Genetic Epidemiologist |
|
Simon Gregory, PhD |
Co-Principal Investigator and Molecular Geneticist |
| David Enterline, MD |
Neuroradiologist |
| Jeffrey M. Stajich, PA-C |
Physician Assistant |
| Heidi Cope, MS, CGC |
Genetic Counselor, Study Coordinator |
Collaborators
Herbert Fuchs, MD
Neurosurgeon, Duke University Medical Center
Gerald Grant, MD
Neurosurgeon, Duke University Medical Center
Paolo Bolognese, MD
Neurosurgeon, North Shore University Hospital
Associate Director, The Chiari Institute
Bermans Iskandar, MD
Neurosurgeon, University of Wisconsin Medical School
Ulrich Batzdorf, MD
Neurosurgeon, University of California Los Angeles (UCLA)
John Oro, MD
Neurosurgeon, The Medical Center of Aurora
CHG Publications on CM1/S
As CHG researchers and collaborators continue to define
the genetic causes of CM1/S, we publish findings in leading
academic journals and share knowledge with colleagues at meetings
and conferences.
CM1/S Research Publications
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The Duke Center for Human Genetics is actively
recruiting families who have TWO OR MORE family members with Chiari type 1
malformation, with or without syringomyelia. These family members must
be related to each other by blood, and BOTH must be willing to
participate.
Study participation involves these steps:
- Contact the study coordinator.
- Provide blood samples from family members both with and without CM1.
- Answer questions about family and medical history.
- Complete a medical questionnaire.
- Review of medical records and MRIs to confirm the diagnosis of CM1
- Potentially ask other degree family members
(parents, siblings, children) to participate in the study.
If your family meets these criteria and is willing to participate in the study,
please contact the study coordinator.
CM1/S Study Coordinator
Heidi Cope, MS, CGC
E-mail: chiari@chg.duhs.duke.edu
Phone: (toll free)(877) 825-1694
Phone: (919) 684-0655
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CM Research Newsletters
 News About Chiari Research, Spring 2012
Support Groups and Information Sources
American Syringomyelia & Chiari Alliance Project (ASAP)
Phone: (toll free) (800) 272-7282
Phone: (903) 236-7079
Chiari & Syringomyelia Foundation (CSF)
Phone: (718) 966-2593
Conquer Chiari
Canadian Syringomyelia Network
Phone: (905) 471-8278
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