Abnormal Movements

 

Abnormal Movements

 

Movement is controlled in the brain by the basal ganglia system, a network of deep-seated nuclei. Disorders affecting this circuit can be degenerative in nature, such as Parkinson’s disease or related disorders (progressive supranuclear palsy, multiple system atrophy), or functional in nature, as in dystonia or certain tremors. 

Research on movement disorders at the CIC Neurosciences focuses on two main areas: 

Gaining a better understanding of the basal ganglia circuit and movement disorders. 

These studies advance our understanding of the brain mechanisms involved in movement control and the disorders responsible for abnormal movements. The studies involve patients with movement disorders or healthy volunteers. The approach is multimodal, including detailed characterization of symptoms, investigation using neurophysiological methods (recording of gait, eye movements, and sleep), the search for causal genetic factors (family case studies) or genetic risk factors (cohort studies*), biomarkers in blood or cerebrospinal fluid, and brain imaging markers (Magnetic Resonance Imaging (MRI) or nuclear imaging). These studies are conducted using the platforms of the Brain Institute and in collaboration with the national clinical research network on mParkinson’s (NS-PARK/F-CRIN). 

These studies are very important for gaining a better understanding of the pathophysiology of these diseases, but also for developing new tools to improve diagnosis, prognosis, and patient follow-up, and for identifying new therapeutic targets. 

Note: *A cohort study is a type of study that involves tracking a group of individuals over time to identify the occurrence of health events of interest and the associated risk or protective factors. 

Innovative clinical trials 

The goal of these clinical trials is twofold. The aim is to relieve symptoms and also to slow the progression of the disease by targeting the underlying neurodegenerative process. 

With regard to symptoms, studies aim to modulate the basal ganglia system either through a pharmacological approach (medications that act on neurotransmitters such as dopamine, norepinephrine, and serotonin) or by directly modulating certain deep brain nuclei using functional neurosurgical techniques (deep brain stimulation, focused ultrasound). 

To slow the progression of the disease, the goal is to target the underlying mechanism(s) using neuroprotective treatments. For example, Parkinson’s disease is characterized by the aggregation of an abnormal protein, synuclein, in dopamine-producing neurons. Therapeutic trials aim to eliminate this abnormal protein using antibodies (immunotherapy), reduce its aggregation (anti-aggregation drugs), or reduce its expression (administration of antisense RNA). Non-specific mechanisms are also being investigated (iron deposits, neuroinflammation, insulin pathways, tyrosine kinases). Finally, precision medicine studies seek to target homogeneous subpopulations of patients carrying specific gene mutations, for example, in Parkinson’s disease, patients with mutations in the LRRK2 or GBA genes. 

The goal of these studies is to advance personalized medicine by providing the right treatment to the right patient. 

 

Movement is controlled in the brain by the basal ganglia system, a network of deep-seated nuclei. Disorders affecting this circuit can be degenerative in nature, such as Parkinson’s disease or related disorders (progressive supranuclear palsy, multiple system atrophy), or functional in nature, as in dystonia or certain tremors. 

Research on movement disorders at the CIC Neurosciences focuses on two main areas: 

Gaining a better understanding of the basal ganglia circuit and movement disorders. 

These studies advance our understanding of the brain mechanisms involved in movement control and the disorders responsible for abnormal movements. The studies involve patients with movement disorders or healthy volunteers. The approach is multimodal, including detailed characterization of symptoms, investigation using neurophysiological methods (recording of gait, eye movements, and sleep), the search for causal genetic factors (family case studies) or genetic risk factors (cohort studies*), biomarkers in blood or cerebrospinal fluid, and brain imaging markers (Magnetic Resonance Imaging (MRI) or nuclear imaging). These studies are conducted using the platforms of the Brain Institute and in collaboration with the national clinical research network on mParkinson’s (NS-PARK/F-CRIN). 

These studies are very important for gaining a better understanding of the pathophysiology of these diseases, but also for developing new tools to improve diagnosis, prognosis, and patient follow-up, and for identifying new therapeutic targets. 

Note: *A cohort study is a type of study that involves tracking a group of individuals over time to identify the occurrence of health events of interest and the associated risk or protective factors. 

Innovative clinical trials 

The goal of these clinical trials is twofold. The aim is to relieve symptoms and also to slow the progression of the disease by targeting the underlying neurodegenerative process. 

With regard to symptoms, studies aim to modulate the basal ganglia system either through a pharmacological approach (medications that act on neurotransmitters such as dopamine, norepinephrine, and serotonin) or by directly modulating certain deep brain nuclei using functional neurosurgical techniques (deep brain stimulation, focused ultrasound). 

To slow the progression of the disease, the goal is to target the underlying mechanism(s) using neuroprotective treatments. For example, Parkinson’s disease is characterized by the aggregation of an abnormal protein, synuclein, in dopamine-producing neurons. Therapeutic trials aim to eliminate this abnormal protein using antibodies (immunotherapy), reduce its aggregation (anti-aggregation drugs), or reduce its expression (administration of antisense RNA). Non-specific mechanisms are also being investigated (iron deposits, neuroinflammation, insulin pathways, tyrosine kinases). Finally, precision medicine studies seek to target homogeneous subpopulations of patients carrying specific gene mutations, for example, in Parkinson’s disease, patients with mutations in the LRRK2 or GBA genes. 

The goal of these studies is to advance personalized medicine by providing the right treatment to the right patient.