Hcy-MA: Hyperhomocysteinemia in Alzheimer's Disease
Study Details
Study Description
Brief Summary
Alzheimer's disease (AD) is the most common neurodegenerative disease. Age is its main risk factor. AD is a multifactorial disease, combining genetic and environmental risk factors. Autosomal dominant mutations have been identified (PSEN1, PSEN2, APP), leading to earlier and more severe forms of the disease. Other genetic risk factors have been identified, such as the ε4 allele of the APOE gene. . The environment also plays a major role, with the identification of several risk factors such as air pollution or nutritional deficiencies.
AD patients frequently present hyperhomocysteinemia, a consequence of a dysfunction of monocarbon metabolism. Homocysteine is an amino acid involved in the metabolism of methionine and cysteine. High concentrations of homocysteine can be deleterious to the central nervous system.
Most prospective studies have shown that elevated homocysteine is a predictor of undefined cognitive impairment or AD. Other studies have focused on clinical data and, in particular, on cognitive function. For example, a meta-analysis found an inverse correlation between MMSE score and homocysteine level.
Thus, our study seeks to evaluate the impact of hyperhomocysteinemia on the severity and early onset of AD, while knowing the presence or absence of genetic risk factors associated with AD.
| Condition or Disease | Intervention/Treatment | Phase |
|---|---|---|
|
Study Design
Arms and Interventions
| Arm | Intervention/Treatment |
|---|---|
| patients with Alzheimer's Disease Patients with Alzheimer's disease |
Other: Retrospective study of clinical features
Retrospective study of clinical features
|
Outcome Measures
Primary Outcome Measures
- Correlation between homocysteine levels and the severity/early onset of Alzheimer's disease [baseline]
Mesure of homocysteine levels Mesure of MiniMental State Evaluation (MMSE), age of symptoms onset
Secondary Outcome Measures
- Evaluation of the frequency of hyperhomocysteinemia and vitamin deficiencies in a homogeneous population of patients with Alzheimer's disease. [baseline]
measurement of homocysteine levels in our cohort measurement of vitamine B1,B6,B9,B12 and methylmalonic acid levels in our cohort
- Evaluation of the genetic characteristics of Alzheimer's disease Evaluation of the genetic characteristics of homocysteine monocarbon metabolism. [baseline]
search for an autosomal dominant mutation (APP, PSEN1 or PSEN2) or a risk factor mutation for Alzheimer's disease (TREM2, SORL1, ABCA7) and APOE status search for a mutation in the genes of monocarbon metabolism
Eligibility Criteria
Criteria
Inclusion Criteria:
- Patients with Alzheimer's disease with positive CSF biomarkers, age of onset < 75 years,, and having already benefited from a previous research of Alzheimer's disease genetic features (PSEN1, PSEN2, APP, APOE) and homocysteine cycle (monocarbon metabolism) by complete exome/clinical exome or panel
Exclusion Criteria:
- patient refusal
Contacts and Locations
Locations
No locations specified.Sponsors and Collaborators
- Central Hospital, Nancy, France
Investigators
None specified.Study Documents (Full-Text)
None provided.More Information
Publications
None provided.- 2023PI049