Management of CLN1 Disease: International Clinical Consensus


Augustine E. F. , Adams H. R. , de los Reyes E., Drago K., Frazier M., Guelbert N., ...More

PEDIATRIC NEUROLOGY, vol.120, pp.38-51, 2021 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 120
  • Publication Date: 2021
  • Doi Number: 10.1016/j.pediatrneurol.2021.04.002
  • Title of Journal : PEDIATRIC NEUROLOGY
  • Page Numbers: pp.38-51

Abstract

Background: CLN1 disease (neuronal ceroid lipofuscinosis type 1) is a rare, genetic, neurodegenerative lysosomal storage disorder caused by palmitoyl-protein thioesterase 1 (PPT1) enzyme deficiency. Clinical features include developmental delay, psychomotor regression, seizures, ataxia, movement disorders, visual impairment, and early death. In general, the later the age at symptom onset, the more protracted & nbsp;Pediatric Neurology 120 (2021) 38e51 the disease course. We sought to evaluate current evidence and to develop expert practice consensus to support clinicians who have not previously encountered patients with this rare disease.