Genetic Characterization of Movement Disorders and Dementias
Genetic Characterization of Movement Disorders and Dementias
Background:

 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.

 Objectives:

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

 Eligibility:

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

 Healthy volunteers.

 Design:

 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
Objective

 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.

 Design

 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.
-  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

 EXCLUSION CRITERIA

 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
 as encephalitis

 For all participants:

 -  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.