The Rare Movement Disorders Research Group

© D. AKTAN

Rare Movement Disorders (RMD)

Research Group

© DEPIERREUX	© C. MOURAUX	© D. AKTAN
Frédérique DEPIERREUX MD, PhD	Charlotte MOURAUX MD	David AKTAN MD

MD, PhD

MD

The Rare Movement Disorders (RMD) Research Group is a multidisciplinary team of neurologists, geneticists, neuroscientists, and neuroimaging specialists. We are dedicated to advancing the diagnosis and treatment of rare movement disorders, particularly those of genetic origin.

These disorders—such as dystonia, chorea, paroxysmal movement disorders, and metabolic movement disorders—affect individuals of all ages. Due to their complexity and rarity, patients often face long diagnostic delays and uncertainty.

Our Mission

Our core mission is to develop and validate innovative diagnostic strategies using:

- Genetic testing (including next-generation sequencing),

- Advanced brain imaging (such as ultra-high field MRI),

- And novel biomarkers.

By refining these techniques, we aim to reduce diagnostic delays and guide patients toward targeted, evidence-based treatments.

RMD Presentation

Current Research Projects

1. MDWGS Study

Leads: Prof. F. Depierreux & Dr. C. Mouraux
Started: 2022
Focus: Genetic Diagnosis of Movement Disorders

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The MDWGS (Movement Disorders Whole Genome Sequencing) study is a prospective, monocentric observational study designed to improve the diagnosis of rare but potentially treatable movement disorders. The research compares the effectiveness and cost-efficiency of:

- Targeted Next-Generation Sequencing (NGS) panels,

- Whole Exome Sequencing (WES),

- Whole Genome Sequencing (WGS),

- Deep sequencing for detecting copy number variations (CNVs).

Participants include deeply phenotyped patients with undiagnosed hypokinetic or hyperkinetic movement disorders, recruited from the Neurology Department of CHU Liège. The ultimate goal is to accelerate diagnosis and improve enrollment in clinical trials for novel therapies.

2. FocalDys Study

Leads: Prof. F. Depierreux & Dr. D. Aktan
Focus: Diagnostic Tools for Focal Dystonia

RMD Imaging2500

The FocalDys study focuses on a specific form of movement disorder—focal dystonia. It aims to evaluate and compare three diagnostic approaches:

- 7-Tesla Ultra-High Field MRI,

- Transcranial ultrasound,

- Genetic analysis (via MDWGS protocols).

This research is designed to establish a standard diagnostic workflow for focal dystonia and guide patients toward effective second-line therapies such as botulinum toxin injections or deep brain stimulation (DBS).

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