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The causes of neurodegenerative dementias such as Frontotemporal Dementia, Lewy Body Disease and Alzheimer's disease are still largely unknown. While the contribution of some genetic mutations and polymorphisms is associated with autosomal dominant patterns of inheritance of these dementias, in many cases, the specific causative mutation in these families is not yet identified. Further, in many patients, polygenic risk is thought to give rise to pathophysiologic changes, but which specific genes affect risk are largely yet unknown. By examining genotypes in patients that present to our Cognitive Neurology and Alzheimer's Research Clinic with suspected or confirmed neurodegenerative dementia, or have a history of a familial dementia, we aim to help identify and characterize genetic mutations or polymorphisms that give rise to neurodegenerative diseases.
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| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Biosample collection. | Other | Blood draw. |
| Measure | Description | Time Frame |
|---|---|---|
| Blood draw for genetic status or polymorphism result. | The blood draw is taken at the time of the clinic visit. Up to 30ml will be collected by standard venipuncture. | A one-time visit, taking the participant approximately 20 minutes total for all study procedures. |
| Measure | Description | Time Frame |
|---|---|---|
| Demographic information. | Demographic information will be collected at the time of the clinic visit. | A one-time visit, taking the participant approximately 20 minutes total for all study procedures. |
| Medical history/Clinical diagnoses. |
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Inclusion Criteria:
Exclusion Criteria:
• Persons declining / unwilling / not able to have a blood draw.
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Persons presenting to the cognitive clinic with a neurodegenerative disorder (for example, AD, FTD, LBD, ALSP, and related conditions);
Biological family members of someone diagnosed with a neurodegenerative disorder, presenting to clinic;
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Sarah Jesso | Contact | 519-646-6000 | cognitiveneurology@sjhc.london.on.ca |
| Name | Affiliation | Role |
|---|---|---|
| Elizabeth Finger, MD | London Health Sciences Centre Research Institute OR Lawson Research Institute of St. Joseph's | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Parkwood Institute | Recruiting | London | Ontario | N6C 0A7 | Canada |
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| ID | Term |
|---|---|
| D057180 | Frontotemporal Dementia |
| D000544 | Alzheimer Disease |
| D020961 | Lewy Body Disease |
| D019636 | Neurodegenerative Diseases |
| ID | Term |
|---|---|
| D057174 | Frontotemporal Lobar Degeneration |
| D003704 | Dementia |
| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
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To examine genetic and polymorphism biomarkers via a blood sample, where the biosample will be tested for genes thought to be relevant to neurodegenerative diseases, and could be re-tested as newly discovered genetic mutations or polymorphisms are revealed.
Will be obtained via chart review when available. This information is collected already as part of the patient's standard care.
| Typically within 1 month of the clinic visit, taking approximately 5 minutes. |
| Pathological diagnoses. | Will be obtained via chart review when available. This information is collected already as part of the patient's standard care. | Typically within 1 month of the clinic visit, taking approximately 5 minutes. |
| D009422 | Nervous System Diseases |
| D057177 | TDP-43 Proteinopathies |
| D057165 | Proteostasis Deficiencies |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D019965 | Neurocognitive Disorders |
| D001523 | Mental Disorders |
| D024801 | Tauopathies |
| D020734 | Parkinsonian Disorders |
| D001480 | Basal Ganglia Diseases |
| D009069 | Movement Disorders |
| D000080874 | Synucleinopathies |