N- Homocysteinylated Huntingtin in Huntington's Disease

N-homocysteinylated Huntingtin in Huntington's Disease

Descriptive analysis of N- homocysteinylated Huntingtin in 3 groups of human fibroblasts:

1. presymptomatic HD individuals with UHDRS motor ≤ 5 (Mutated Huntingtin),
2. symptomatic HD individuals with motor UHDRS > 5 (Mutated Huntingtin)
3. human control cell lines, unmutated Huntingtin

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

Inclusion Criteria:

• Patient with the symptomatic or presymptomatic Huntington's disease gene (CAG >= 36)
• Molecularly confirmed Huntington's disease
• Patient 18 years of age and older
• Person affiliated to or benefiting from a social security assurance

Exclusion Criteria:

• Person deprived of liberty by a judicial or administrative decision, persons subject to psychiatric care pursuant to Articles L. 3212-1 and L. 3213-1
• Pregnant woman, parturient or nursing mother
• Women of childbearing potential who do not have effective contraception
• Intellectual deterioration preventing the understanding of research