Neuronal ceroid lipofuscinoses (NCLs), or Batten disease, are a group of devastating and lethal neurodegenerative lysosomal storage diseases that typically affect children. The disease is known to have 14 forms, each resulting from mutations in a distinct gene.Juvenile neuronal ceroid-lipofuscinosis (JNCL), also called Spielmeyer-Vogt-Sjögren disease or CLN3, is the most common inherited, autosomal recessive, neurodegenerative disorder. It is characterized by progressive loss of vision, seizures, and loss of cognitive and motor functions, leading to premature demise. JNCL is caused by mutations of CLN3, a gene that encodes a hydrophobic transmembrane protein, which localizes to membrane lipid rafts in lysosomes, endosomes, synaptosomes, and cell membranes. The absence of the CLN3 protein affects numerous cellular functions, including pH regulation, arginine transport, membrane trafficking, and apoptosis. CLN3 disease is a rare neurodegenerative disease causing not only vision loss and decline in cognitive and motor skills but also altered behavior and emotions. Declines in physical and cognitive skills give rise to certain emotions and behaviors that differ for each individual, although general characteristics can be found.This activity describes the epidemiology, genetics, clinical presentation, and management of JNCL, providing healthcare professionals with the knowledge and tools to improve patient care for this complex and prevalent condition. This activity highlights the role of an interprofessional healthcare team in supporting and managing patients with this complex condition.
- Provider:StatPearls, LLC
- Activity Link: https://www.statpearls.com/ArticleLibrary/viewarticle/160995
- Start Date: 2024-12-01 06:00:00
- End Date: 2024-12-01 06:00:00
- Credit Details: AMA PRA Category 1 Credit™️: 1.5 hours
Nursing: 1.5 hours
Pharmacy: 1.5 hours - MOC Credit Details: ABS - 1.5 Point; Credit Type(s): Accredited CME (ABS)
ABPATH - 1.5 Point; Credit Type(s): Lifelong Learning (ABPATH)
ABIM - 1.5 Point; Credit Type(s): Medical Knowledge (ABIM)
ABS - 1.5 Point; Credit Type(s): Self-Assessment (ABS)
ABP - 1.5 Point; Credit Type(s): Lifelong Learning and Self-Assessment (ABP) - Commercial Support: No
- Activity Type: Enduring Material
- CME Finder Type: Online Learning
- Fee to Participate: Variable
- Measured Outcome: Learner Knowledge, Learner/Team Competence
- Provider Ship: Directly Provided
- Registration: Open to all
- Specialty: Adolescent Medicine, All Practice Areas (e.g. ethics), Developmental-Behavioral Pediatrics, General Pediatrics, General Surgery, Hospital Medicine, Neonatal-Perinatal Medicine, Neurodevelopmental Disabilities, Pediatric Critical Care Medicine, Pediatric Emergency Medicine, Pediatric Neurology