Pantothenate Kinase-associated Neurodegeneration (PKAN)
Conditions
Keywords
PKAN, brain iron, NBIA, neurodegeneration with brain iron accumulation, Hallervorden Spatz Syndrome
Brief summary
The purpose of this study is to learn whether blood flow in the brain is normal in people with pantothenate kinase-associated neurodegeneration (PKAN). Specifically, preliminary data suggest a region of the brain called the globus pallidus (GP), a key region affected by PKAN, may have reduced blood flow. Standard MRI and perfusion scanning techniques will be used to learn about cerebral blood flow in the globus pallidus and compare it to blood flow in other brain regions as well as to healthy controls.
Interventions
None listed
Sponsors
Oregon Health and Science University
Oregon Clinical and Translational Research Institute
Susan J. Hayflick
Study design
Observational model
CASE_CONTROL
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Age
7 Years to 75 Years
Healthy volunteers
Yes
Inclusion criteria
* diagnosis of PKAN confirmed by MRI and gene testing * able to undergo MRI for approximately 1 hour without sedation
Exclusion criteria
* deep brain stimulators or other conditions that warrant avoidance of a strong magnetic field * previous reaction to gadolinium (Gd) contrast agent * acute or chronic kidney dysfunction * pregnant and/or nursing at time of study
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| ASL-derived cerebral blood flow(CBF) | Single MRI | The unit of analyses will be the subject and the primary comparison will be the globus pallidus CBF between PKAN and healthy controls. |
Countries
United States
Outcome results
None listed