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The human Prion diseases can be classified into sporadic, acquired and inherited forms. Inherited forms usually manifest in higher age so there have to be factors preventing Prion propagation in young mutation carriers. Antibodies against the flexible tail of Prions have been shown to be protective in mice. The investigators intend to screen mutation carriers and controls for the presence of Prion autoantibodies.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| carriers of a mutation in the Prion gene | Carriers of a mutation in the Prion gene who are either symptomatic or pre-symptomatic and who do either know or not know their mutation status. |
| |
| family members of carriers of a mutation in the Prion gene | Relatives of confirmed PrP mutation carriers who carry two wild type alleles. |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| blood draw | Other |
|
| Measure | Description | Time Frame |
|---|---|---|
| Anti-Prion protein autoantibody levels | Baseline, up to 90 years |
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Inclusion Criteria:
Exclusion Criteria:
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Male or female carriers of a mutation in the Prion protein gene of any age and their wild type siblings.
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| UCSF Memory and Aging Center | San Francisco | California | United States | |||
| Medical University Graz |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 32098855 | Derived | Frontzek K, Carta M, Losa M, Epskamp M, Meisl G, Anane A, Brandel JP, Camenisch U, Castilla J, Haik S, Knowles T, Lindner E, Lutterotti A, Minikel EV, Roiter I, Safar JG, Sanchez-Valle R, Zakova D, Hornemann S, Aguzzi A; THAUTAN-MC Study Group. Autoantibodies against the prion protein in individuals with PRNP mutations. Neurology. 2020 Oct 6;95(14):e2028-e2037. doi: 10.1212/WNL.0000000000009183. Epub 2020 Feb 25. |
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| ID | Term |
|---|---|
| D017096 | Prion Diseases |
| ID | Term |
|---|---|
| D002494 | Central Nervous System Infections |
| D007239 | Infections |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
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| ID | Term |
|---|---|
| D001800 | Blood Specimen Collection |
| ID | Term |
|---|---|
| D013048 | Specimen Handling |
| D019411 | Clinical Laboratory Techniques |
| D019937 | Diagnostic Techniques and Procedures |
| D003933 | Diagnosis |
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| Graz |
| Austria |
| University Medical Center Göttingen | Göttingen | Germany |
| CJD Foundation Israel | Pardés H̱anna Karkur | Israel |
| Istituto di Ricerche Farmacologiche | Milan | Italy |
| Slovak Medical University | Bratislava | Slovakia |
| Institute of Neuropathology | Zurich | Switzerland |
| D019636 | Neurodegenerative Diseases |
| D011677 | Punctures |
| D013514 | Surgical Procedures, Operative |
| D008919 | Investigative Techniques |