University Hospital, Montpellier



This study wants to confirm if Brain Derived Neurotropic Factor(BDNF) is a good biomarker for HD. The BDNF will be collected and measured from cerebrospinal fluid (CSF)

Why is this study important? We have good reasons to believe that BDNF has an active role in protecting damaged brain cells as well as enhancing growth of new ones. The study will provide us with more solid information about the connection between BDNF and symptom development in humans with Huntington’s. If proven to be relevant, BDNF levels will probably be a target for treatment in the future. In this study the BDNF levels in cerebrospinal fluid and blood will hopefully be identified as a biomarker for Huntington’s disease.

Ages Eligible
for Study:

18 Years and older

(Adult, Older Adult)

Sexes Eligible
for Study:


Accepts Healthy Volunteers:


  • General inclusion criteria:

    • age ≥ 18 years-old
    • national health insurance cover
  • Patients inclusion criteria:

    • genetically confirmed Huntington’s disease diagnosis (≥ 35 CAG repeat in HTT gene exon 1)
    • written informed consent
    • only for patients “with lumbar puncture (LP)”: patient agreement for LP
  • Control inclusion criteria:

    • anterior LP for medical reason with consent for biobank “Neuro” with following samples present in this biobank : 2 mL blood + 0.5 mL plasma + 0.5 mL cerebrospinal fluid
    • information and non-opposition for the finality of this biobank
    • paired by age with a patient (+/- 5 years difference)
  • General exclusion criteria:

    • protected by law
  • Patients exclusion criteria:

    • Huntington’s disease stage too Evolved that may interfere with cognitive evaluations or MRI
    • contraindications to brain MRI
    • only for patients “with LP”: contraindications to LP
    • incapacity to give informed consent
  • Control exclusion criteria:

    • neurodegenerative of inflammatory central nervous system pathology



University Hospital of Montpellier

Address: Montpellier, France

Cecilia Marelli

Diana Ban


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biomarker, or biological marker is a measurable indicator of some biological state or condition. It can be a level of something in your blood or hormon levels for instance.  Biomarkers are often measured and evaluated to examine normal biological processes – like measuring the level of hemoglobin in your blood or your blood pressure.  In reference to research on Huntingtons disease, a biomarker is an indicator of disease progression.  Examples are changes within the cells related to so-called metabolism (energy processes) or levels of mutant Huntingtin in nervecells. It can also be changes in organs – like loss of muscle or brain volume.  We use biomarkers to measure how the disease progress and potentially how a treatment influence the disease progression. 

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CAG repeat

The stretch of DNA at the beginning of the HD gene, which contains the sequence CAG repeated many times, and is abnormally long in people who will develop HD. (from

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A clear fluid produced by the brain, which surrounds and supports the brain and spinal cord.


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Inclusion Criteria

A type of eligibility criteria. These are the reasons that a person is allowed to participate in a clinical study.

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Exclusion Criteria

A type of eligibility criteria. These are reasons that a person is not allowed to participate in a clinical study.