Two compound heterozygous variants in the CLN8 gene are responsible for neuronal cereidolipofuscinoses disorder in a child: a case report

• Main Authors: Federico Baltar (Author), Camila Simoes (Author), Francisco Garagorry (Author), Martín Graña (Author), Soledad Rodríguez (Author), María Haydée Aunchayna (Author), Alejandra Tapié (Author), Alfredo Cerisola (Author), Gabriel González (Author), Hugo Naya (Author), Lucía Spangenberg (Author), Víctor Raggio (Author)
• Format: Book
• Published: Frontiers Media S.A., 2024-05-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

BackgroundNeuronal Ceroid Lipofuscinosis (NCL) disorders, recognized as the primary cause of childhood dementia globally, constitute a spectrum of genetic abnormalities. CLN8, a subtype within NCL, is characterized by cognitive decline, motor impairment, and visual deterioration. This study focuses...