Genetic Characterization of Movement Disorders and Dementias

  • End date
    Dec 31, 2059
  • participants needed
  • sponsor
    National Institute on Aging (NIA)
Updated on 28 October 2022
blood tests
cognitive impairment
heart disease
genetic testing
movement disorder
Accepts healthy volunteers



There are two basic types of movement disorders. Some cause excessive movement, some cause slowness or lack of movement. Some of these are caused by mutations in genes. On the other hand, dementia is a condition of declining mental abilities, especially memory. Dementia can occur at any age but becomes more frequent with age. Researchers want to study the genes of families with a history of movement disorders or dementia. They hope to find a genetic cause of these disorders. This can help them better understand and treat the diseases. This study will not be limited to a particular disorder, but will study all movement disorders or dementias in general. This study will perform genetic testing to identify the genetic causes of movement disorders and dementia. Today, genetic testing can be done to analyze multiple genes at the same time. This increases the chances of finding the genetic cause of movement disorders and dementias.


To learn more about movement disorders and dementia, their causes, and treatments.


Adults and children with a movement disorder or dementia, and their family members.

Healthy volunteers.


Participants will be screened with medical history and blood tests. Some will have physical exam.

Participants will give a blood sample by a needle in the arm. This can be done at the clinic, by their own doctor, or at home. Alternatively, a saliva sample may be provided if a blood sample cannot be obtained.

Participants can opt to send an extra blood sample to a repository for future study. Genetic test will be done on these samples. The samples will be coded. The key to the code will remain at NIA. Only NIA investigators will have access to the code key. Participants can request to receive results of the tests.

Participation is generally a single visit. Participants may be called back for extra



The objective of this study is to ascertain individuals with a clinical diagnosis of a movement disorder or dementia, their affected and unaffected family members, and unrelated, healthy individuals (to provide control samples); to characterize their phenotypes; and to identify and further characterize genetic contributions to etiology by collecting blood samples, and/or saliva samples on these individuals for DNA and induced Pluripotent stem (iPs) cell line preparation.

Study population

Up to 10,000 persons with a diagnosis of a movement disorder or dementia, 1,000 asymptomatic persons who are family members/related to individuals with a diagnosis of movement disorder or dementia, and 1,000 unrelated, healthy control individuals.


This study usually requires one outpatient visit to the NIH Clinical Center. Participant visits may also take place when they are an inpatient at the NIH Clinical Center. Those who are unable to travel to NIH may have study procedures performed at a site near their

home, such as hospital facilities, private physician offices, nursing homes, assisted living facilities, local community centers, or participant homes. Participants will undergo medical record review, a physical examination and biospecimen collection including

blood draw and/or saliva collection at the enrollment visit.

Additional visits may be scheduled to collect additional phenotype information or to collect additional biospecimens.

Outcome measures

The primary outcome measure of this study is the identification of pathogenic genetic variants that are causative for the movement disorder or dementia that the patient has been diagnosed with. These disease-causing variants are often inherited.

The secondary outcome measure of this study is the identification of genetic variants that alter susceptibility/risk for the movement disorder or dementia that the patient has been diagnosed with. These genetic risk factors are associated with disease that can be apparently sporadic in nature.

Condition Dementia, Movement Disorder
Clinical Study IdentifierNCT02014246
SponsorNational Institute on Aging (NIA)
Last Modified on28 October 2022


Yes No Not Sure

Inclusion Criteria

For Patients
Diagnosis of a movement disorder or dementia by a neurologist or other qualified professional and accompanied by sufficient clinical and/or laboratory evidence to support the diagnosis
Confirmation of a movement disorder or dementia by study investigators or a qualified clinician by physical examination and/or review of medical records
Ages 18 and above
Able to provide consent or, in the case of minors, or cognitive impairment, have a legally-authorized representative to provide consent
Able to understand and participate in study procedures or for those without consent capacity, able to participate in study procedures AND has a legally authorized representative that understands the study procedures and can consent on their behalf
For unaffected family members of patients
Unaffected relative of a patient diagnosed with a movement disorder or dementia enrolled in this protocol. For these purposes, we define a family member as an individual for which there is a demonstrable relationship with the proband in the pedigree. This is a standard approach used in family-based studies. Furthermore, the related patient (defined as a family member diagnosed with the disease of interest) must be enrolled in the study
Ages 18 and above
Able to provide consent
Able to understand and participate in study procedures
For unrelated healthy control individuals
Be in good general health
Have no known movement disorder or dementia, or family member with a movement disorder or dementia
Age 18 and above
Able to provide consent
Able to understand and participate in study procedures
For patients
An identifiable, non-genetic etiology for the movement disorder or dementia, such as a
specific environmental exposure, birth injury, metabolic disorder, or brain infection such
For all participants
as encephalitis
Clinically significant anemia that would make phlebotomy unsafe, and participant
unwilling to provide saliva sample
Clinically significant bleeding that would make phlebotomy unsafe, and participant
unwilling to provide saliva sample
Any medical condition that would make phlebotomy unsafe or undesirable, such as a
serious medical illness like unstable heart disease, or unstable chronic obstructive
pulmonary disease, and participant unwilling to provide saliva sample
Clear my responses

How to participate?

Step 1 Connect with a study center
What happens next?
  • You can expect the study team to contact you via email or phone in the next few days.
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Additional screening procedures may be conducted by the study team before you can be confirmed eligible to participate.

Learn more

If you are confirmed eligible after full screening, you will be required to understand and sign the informed consent if you decide to enroll in the study. Once enrolled you may be asked to make scheduled visits over a period of time.

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Complete your scheduled study participation activities and then you are done. You may receive summary of study results if provided by the sponsor.

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