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To establish diagnostic tools to make an accurate clinical and pathological diagnosis of patients with clinical FTLD syndromes
The goal of this study is to determine the best diagnostic test for diagnosing frontotemporal lobar degeneration. To accomplish this, the current study will evaluate different tests: brain imaging, skin biopsy, body fluid samples (blood and cerebrospinal fluid), thinking abilities, everyday functioning, and brain autopsy. The study team hopes that this information can be used to guide diagnosis and further understanding of mechanism of disease in Frontotemporal Lobar Degeneration and possibly treatment in the future.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Progressive supranuclear palsy | Observational Study |
| |
| Corticobasal syndrome | Observational Study |
| |
| Behavoral variant FTD | Observational Study |
| |
| Semantic variant PPA | Observational Study |
| |
| Non-fluent variant PPA | Observational Study |
| |
| FTD-motor neuron disease | Observational Study |
| |
| Healthy controls |
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Observational Study | Other |
|
| Measure | Description | Time Frame |
|---|---|---|
| Structural and Functional Diffferences between the FTLD groups via MRI of the brain | Differences in brain volumes and resting state functional connectivity | One time visit through study completion of 5 years |
| Differences between the FTLD groups via PET imaging of the brain | Differences in ligand uptake | One time visit through study completion of 5 years |
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Inclusion Criteria:
Exclusion Criteria:
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Patients with a diagnosis of progressive supranuclear palsy (PSP), corticobasal syndrome (CBS), semantic variant primary progressive aphasia (sv-PPA), non-fluent variant PPA (nfv-PPA), behavioral variant frontotemporal dementia (bvFTD) or FTD-motor neuron disease (FTD-MND).
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Cristina Salvo, BSc, MD | Contact | 416-507-6880 | cristina.salvo@uhn.ca |
| Name | Affiliation | Role |
|---|---|---|
| Maria C Tartaglia, M.D. | Toronto Western Hospital, UHN; Tanz CRND | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Toronto Western Hospital, University Health Network | Recruiting | Toronto | Ontario | M5T 2S8 | Canada |
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| ID | Term |
|---|---|
| D000088282 | Corticobasal Degeneration |
| D013494 | Supranuclear Palsy, Progressive |
| D057180 | Frontotemporal Dementia |
| D057178 | Primary Progressive Nonfluent Aphasia |
| C566288 | Frontotemporal Dementia With Motor Neuron Disease |
| ID | Term |
|---|---|
| D024801 | Tauopathies |
| D019636 | Neurodegenerative Diseases |
| D009422 | Nervous System Diseases |
| D001480 | Basal Ganglia Diseases |
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| ID | Term |
|---|---|
| D019370 | Observation |
| ID | Term |
|---|---|
| D008722 | Methods |
| D008919 | Investigative Techniques |
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Blood for biomarkers will be collected from participants for genetic testing. In addition, cerebrospinal fluid (CSF) will be collected to measure levels of different proteins, such as tau.
Observational Study
|
| D001927 |
| Brain Diseases |
| D002493 | Central Nervous System Diseases |
| D009069 | Movement Disorders |
| D009886 | Ophthalmoplegia |
| D015835 | Ocular Motility Disorders |
| D003389 | Cranial Nerve Diseases |
| D010243 | Paralysis |
| D009461 | Neurologic Manifestations |
| D005128 | Eye Diseases |
| D012816 | Signs and Symptoms |
| D013568 | Pathological Conditions, Signs and Symptoms |
| D057174 | Frontotemporal Lobar Degeneration |
| D003704 | Dementia |
| D057177 | TDP-43 Proteinopathies |
| D057165 | Proteostasis Deficiencies |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D019965 | Neurocognitive Disorders |
| D001523 | Mental Disorders |
| D018888 | Aphasia, Primary Progressive |
| D001037 | Aphasia |
| D013064 | Speech Disorders |
| D007806 | Language Disorders |
| D003147 | Communication Disorders |
| D019954 | Neurobehavioral Manifestations |