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Descriptive analysis of N- homocysteinylated Huntingtin in 3 groups of human fibroblasts:
Prospective inclusions of 32 subjects with 24 symptomatic HD patients and 8 presymptomatic HD patients.Rationale: This is a pilot study in humans. Over a period of 2 years, the potential recruitment should make it possible to include 32 patients This number will make it possible to calculate the overall variability of the dosage and to have statistics of position and dispersion in the 2 subgroups identified.
Controls: Eight standardized cell lines from human fibroblasts
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| presymptomatic HD individuals with UHDRS motor ≤ 5 (Mutated Huntingtin) | Experimental | presymptomatic HD individuals with UHDRS motor ≤ 5 (Mutated Huntingtin) |
|
| symptomatic HD individuals with motor UHDRS > 5 (Mutated Huntingtin) | Experimental | symptomatic HD individuals with motor UHDRS > 5 (Mutated Huntingtin) |
|
| human control cell lines, Unmutated Huntingtin | Experimental | human control cell lines, Unmutated Huntingtin |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| skin biopsy | Other | skin biopsy |
|
| Measure | Description | Time Frame |
|---|---|---|
| Huntingtin homocysteinylated level | measures the interaction between Homocysteine and Huntingtin in fibroblasts | Through study completion, an average of 2 years |
| Measure | Description | Time Frame |
|---|---|---|
| Blood levels of B9, B12 | Blood levels of B9, B12 | Through study completion, an average of 2 years |
| Blood levels of homocysteinemia | Blood levels of homocysteinemia |
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Inclusion Criteria:
Exclusion Criteria:
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| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Mathilde Renaud, MD, PhD | Contact | 03 83 15 36 22 | m.renaud2@chru-nancy.fr | |
| Nathalie Keil | Contact | 03 83 15 52 79 | n.keil@chru-nancy.fr |
| Name | Affiliation | Role |
|---|---|---|
| Mathilde Renaud | CHRU Nancy | Principal Investigator |
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| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 27534418 | Result | Geoffroy A, Kerek R, Pourie G, Helle D, Gueant JL, Daval JL, Bossenmeyer-Pourie C. Late Maternal Folate Supplementation Rescues from Methyl Donor Deficiency-Associated Brain Defects by Restoring Let-7 and miR-34 Pathways. Mol Neurobiol. 2017 Sep;54(7):5017-5033. doi: 10.1007/s12035-016-0035-8. Epub 2016 Aug 17. | |
| 30734924 | Result |
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| ID | Term |
|---|---|
| D006816 | Huntington Disease |
| C566403 | Homocysteinemia |
| ID | Term |
|---|---|
| D001480 | Basal Ganglia Diseases |
| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
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| Through study completion, an average of 2 years |
| Bossenmeyer-Pourie C, Smith AD, Lehmann S, Deramecourt V, Sablonniere B, Camadro JM, Pourie G, Kerek R, Helle D, Umoret R, Gueant-Rodriguez RM, Rigau V, Gabelle A, Sequeira JM, Quadros EV, Daval JL, Gueant JL. N-homocysteinylation of tau and MAP1 is increased in autopsy specimens of Alzheimer's disease and vascular dementia. J Pathol. 2019 Jul;248(3):291-303. doi: 10.1002/path.5254. Epub 2019 Mar 19. |
| D003704 | Dementia |
| D002819 | Chorea |
| D020820 | Dyskinesias |
| D009069 | Movement Disorders |
| D020271 | Heredodegenerative Disorders, Nervous System |
| D019636 | Neurodegenerative Diseases |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D003072 | Cognition Disorders |
| D019965 | Neurocognitive Disorders |
| D001523 | Mental Disorders |