Genetic Analysis of the Chiari I Malformation

Launched by NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE (NINDS) · Feb 26, 2000

Keywords

ClinConnect Summary

Objectives: The goal of this study is to establish family pedigrees and undertake genetic linkage analysis that will identify gene loci associated with the Chiari I malformation and underdevelopment of the bone forming the posterior cranial fossa.

Study Population: Patients and family members of patients with the Chiari I malformation. Because the research institutions are located in the United States and Russia, subjects will be recruited predominantly from these countries.

Design: Human subjects will undergo 1) neurologic examinations, 2) head and cervical MRI scans to evaluate for the ...

Gender

ALL

Eligibility criteria

• * INCLUSION CRITERIA:
• To be eligible for entry into the study, a candidate must meet the following criteria:
• • Patient with a confirmed diagnosis of Chiari I malformation who has a family member with syringomyelia or Chiari I malformation, or
• • Family member of a patient with a confirmed diagnosis of Chiari I malformation, AND
• • There are at least two family members diagnosed with Chiari I malformation.
• • If an adult, able to give informed consent; if a minor, has an adult who is legally responsible for the subject and who is able to give consent.
• EXCLUSION CRITERIA:
• A candidate will be excluded if he/she:
• • Has a contraindication to MRI scanning.
• • Is unable to comprehend the risks of the testing.
• • Is less than one year of age.
• • Cannot undergo MRI scanning without sedation.