Genetic Characterization of Movement Disorders and Dementias
In this observational study, scientists will examine the genes of families with a history of movement disorders (such as Parkinson's disease, amyotrophic lateral sclerosis (ALS), ataxia, corticobasal degeneration, dystonia, essential tremor, and Huntington's disease) and dementias (such as Alzheimer's disease, Lewy body dementia, and frontotemporal dementia) to try to find a genetic cause of these disorders. People with any movement disorder or dementia and their family members are invited to participate.
|Minimum Age||Maximum Age||Gender||Healthy Volunteers|
- Diagnosis of a movement disorder or dementia accompanied by sufficient clinical and/or laboratory evidence
- Clinical confirmation of a movement disorder or dementia by the investigator and his associates, either by physical examination and/or review of medical records
- Family member of a person diagnosed with a movement disorder or dementia
- Able to provide consent or, in the case of minors and cognitively impaired individuals, have a legally authorized representative to provide consent
- Able to understand and participate in study procedures or have a legally authorized representative that can consent on participant's behalf
- Any movement disorder or dementia caused by a specific environmental exposure, birth injury, metabolic disorder, or brain infection such as encephalitis
- Clinically significant anemia that would make drawing blood unsafe, and participant is unwilling to provide saliva sample
- Clinically significant bleeding that would make drawing blood unsafe, and participant is unwilling to provide saliva sample
- Any medical condition that would make drawing blood unsafe or undesirable (for example, a serious medical illness such as unstable heart disease or unstable chronic obstructive pulmonary disease), and participant is unwilling to provide saliva sample
Movement disorders can be classified into two basic types: those characterized by disordered or excessive movement and those characterized by slowness or lack of movement. Examples include Parkinson's disease, amyotrophic lateral sclerosis (ALS), ataxia, corticobasal degeneration, dystonia, essential tremor, Huntington's disease, and many more.
Dementia is a condition of declining mental abilities. It can occur at any age but becomes more frequent with older age. Examples include Alzheimer's, Lewy body dementia, frontotemporal dementia, Alexander disease, Parkinson's disease dementia, Canavan disease, dentatorubral-pallidoluysian atrophy, Creutzfeldt-Jakob disease, fatal familial insomnia, Fragile X-associated tremor/ataxia syndrome, Krabbe's disease, Niemann Pick disease type C, neuronal ceroid lipofuscinosis, neuroacanthocytosis, and many more.
Several disease-causing gene mutations are known to cause certain movement disorders and dementia. In this study, researchers seek to further characterize the genetic basis of movement disorders and dementias. By studying the genes of families with a history of such disorders, they hope to better understand the biochemical and physiological processes underlying the disease. As a second aim, scientists will investigate the association between genetic polymorphisms (genetic forms) and movement disorders/dementias.
National Institute of Aging, Clinical Research Unit
NIA Studies Recruitment
National Institute on Aging (NIA)
|Bryan J. Traynor, MD||Principal Investigator||National Institute on Aging (NIA)|
|Cynthia D. Crewsemail@example.com|
Genetic Characterization of Movement Disorders