💬In plain words
What the trial is, and whether it could suit you
Inherited movement disorders are rare conditions, whose cumulative prevalence are in the order of 5-10/100,000 inhabitants, in most cases progressive and can lead to a significant loss of autonomy after one or more decades of evolution. They include spinocerebellar ataxias and hyperkinetic disorders (dystonias, choreas, tremor, parkinsonism and myoclonus with variable combination of those, or more complex alteration of movements). The existence of the National Reference Centre (CMR) for Rare Diseases (CMR Neurogenetics, devoted to ataxias and spastic paraparesis, dystonia and rare movement disorders and CMR Huntington, devoted to Huntington Disease) has allowed a more integrated vision of these diseases. This is illustrated, in the same family, by the occurrence of different clinical expressions of spinocerebellar ataxias and hyperkinetic disorders that share the same genetic background.
Sign in to get the eligibility rules as simple questions to take to your doctor.
📋 Eligibility rules (as published)
Inclusion Criteria:
Common inclusion criteria for all participants:
\- - Affiliated with a social security system or beneficiary of such a regime
Group of patients:
Any patient with inherited hyperkinetic movement disorders can be included in the study according to the following criteria:
Woman or man;
* Clinical diagnosis of inherited hyperkinetic movement disorders with or without a genetic diagnosis
* With or without familial history of the disease
* Age ≥ 7 years;
* Signed Informed consent by the patient or both of holders of the parental authority for minors, or by the le;gal guardian for adults under guardianship
Group of at-risk individuals:
* Woman or man;
* Age ≥ 18 years old;
* A first-degree relative of a patient with inherited hyperkinetic movement disorders
* OR a carrier of an identified pathogenic variant or expansion in one of the pathological gene variant involved in one of these diseases;
* Normal neurological examination; according to disease specific scales
* Signed Informed consent by the subject or by the legal guardian for adults under guardianship
Group of healthy controls:
* Woman or man;
* Aged ≥ 18 years old;
* Free of known neurological pathology;
* No significant neurological symptoms;
* Signed Informed consent by the subject
Common inclusion criteria for elective participant for skin biopsy (optional): - Age ≥10 ans
* Ability to undergo a skin biopsy
Common inclusion criteria for elective participant for MRI examination (optional): - Ability to undergo a MRI.
Exclusion Criteria:
Absolute criteria for non-inclusion for all groups:
\- Person deprived of their liberty by judicial decision
Contra-indications to MRI examination\* (optional): metallic implant, pacemaker, artificial heart valve, brain vascular malformation, aneurysm clips, exposed by metallic fragments, artificial implants, peripheral or neuronal stimulator, insulin pump, intravenous catheter, epilepsy, metallic contraceptive device, claustrophobia,
Contra-indication to skin biopsy (optional):
* Taking anticoagulant or antiplatelet medication (see above),
* History of hemostasis disorders,
* Presence of hemorrhagic risk verified by a coagulation test
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