Summary

Eligibility
for people ages 6-30 (full criteria)
Healthy Volunteers
healthy people welcome
Location
at UC Davis
Dates
study started
estimated completion
Principal Investigator
by Alexandra Duffy, DO (ucdavis)

Description

Summary

Huntington's Disease (HD) is an autosomal dominant disease manifested in a triad of cognitive, psychiatric, and motor signs and symptoms. HD is caused by a triplet repeat (CAG)expansion in the gene Huntingtin (HTT). This disease has classically been conceptualized as a neurodegenerative disease. However, recent evidence suggests that abnormal brain development may play an important role in the etiology of HD. Huntingtin (HTT)is expressed during development and through life. In animal studies, the HTT gene has been shown to be vital for brain development. This suggests that a mutant form of HTT (gene-expanded or CAG repeats of 40 and above) would affect normal brain development. In addition, studies in adults who are gene-expanded for HD, but have not yet manifested the illness, (pre-HD subjects) have significant changes in the structure of their brain, even up to 20 years before onset of clinical diagnosis. How far back these changes are evident is unknown. One possibility is that these brain changes are present throughout life, due to changes in brain development,though initially associated with only subtle functional abnormalities. In an effort to better understand the developmental aspects of this brain disease, the current study proposes to evaluate brain structure and function in children, adolescents, and young adults (ages 6-30) who are at risk for developing HD - those who have a parent or grandparent with HD. Brain structure will be evaluating using Magnetic Resonance Imaging (MRI) with quantitative measures of the entire brain, cerebral cortex, as well as white matter integrity via Diffusion Tensor Imaging. Brain function will be assessed by cognitive tests, behavioral assessment, and physical and neurologic evaluation. Subjects that are gene-expanded (GE) will be compared to subjects who are gene non-expanded (GNE). Changes in brain structure and/or function in the GE group compared to the GNE group would lend support to the notion that this disease has an important developmental component.

Official Title

Growth and Development of Striatal-Cerebellum Circuitry in Subjects at Risk for Huntington's Disease

Keywords

Huntington's Disease HD Huntington Disease Gene-expanded (GE) Gene Non-Expanded (GNE)

Eligibility

You can join if…

Open to people ages 6-30

  • Family history of Huntington's Disease
  • Age 6-30 years
  • Age-appropriate knowledge of HD and personal risk

You CAN'T join if...

  • Metal in body, including braces
  • History of head trauma, brain tumor, seizures, epilepsy
  • History of major surgery and/or significant ongoing medical issue(s)

Locations

  • University of California Davis accepting new patients
    Sacramento California 95817 United States
  • University of Texas Health Science Center at Houston accepting new patients
    Houston Texas 77030 United States

Lead Scientist at UC Health

  • Alexandra Duffy, DO (ucdavis)
    Assistant Professor, Neurology. Authored (or co-authored) 5 research publications.

Details

Status
accepting new patients
Start Date
Completion Date
(estimated)
Sponsor
Peggy C Nopoulos
Links
Previous study site Current study site
ID
NCT01860339
Study Type
Observational
Last Updated