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
Study Type
INTERVENTIONAL
Allocation
NON_RANDOMIZED
Purpose
BASIC_SCIENCE
Masking
NONE
Enrollment
32
skin biopsy
Huntingtin homocysteinylated level
measures the interaction between Homocysteine and Huntingtin in fibroblasts
Time frame: Through study completion, an average of 2 years
Blood levels of B9, B12
Blood levels of B9, B12
Time frame: Through study completion, an average of 2 years
Blood levels of homocysteinemia
Blood levels of homocysteinemia
Time frame: Through study completion, an average of 2 years
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