Primary Lateral Sclerosis French National Diagnostic and Care Protocol

Area of Science:

• Neurology
• Neurodegenerative Diseases
• Motor Neuron Diseases

Background:

• Primary Lateral Sclerosis (PLS) is a rare neurodegenerative motor neuron disease affecting central motor neurons.
• It accounts for 1-5% of motor neuron diseases, typically presenting in the 5th-6th decade with male predominance.
• Diagnosis requires demonstrating progressive upper motor neuron dysfunction without lower motor neuron signs for at least four years.

Purpose of the Study:

• To standardize diagnostic criteria for PLS across France.
• To optimize the differential diagnosis between PLS, ALS, and hereditary spastic paraplegias.
• To provide evidence-based recommendations for management and follow-up of PLS patients.

Main Methods:

• Development of a National Diagnostic and Care Protocol (PNDS) by the French Motor Neuron Disease Network (FILSLAN).
• Recommendations align with the French National Authority for Health's framework for rare diseases.
• Guidance includes diagnostic criteria, differential diagnosis, investigations, genetic testing indications, and multidisciplinary care strategies.

Main Results:

• The protocol offers practical guidance for diagnosing PLS as a diagnosis of exclusion.
• It details strategies for distinguishing PLS from ALS and hereditary spastic paraplegias.
• Recommendations cover symptomatic treatment, rehabilitation, surveillance, psychosocial support, and follow-up frequency.

Conclusions:

• The PNDS aims to harmonize clinical practice and improve patient care for PLS in France.
• It emphasizes a multidisciplinary approach centered on symptomatic management and supportive care.
• The protocol acknowledges the current lack of disease-modifying therapies for PLS.