Management of CLN1 Disease: International Clinical Consensus

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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 (SCI-Expanded, Scopus) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 120
  • Publication Date: 2021
  • Doi Number: 10.1016/j.pediatrneurol.2021.04.002
  • Journal Name: PEDIATRIC NEUROLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, CAB Abstracts, CINAHL, EMBASE, MEDLINE, Veterinary Science Database
  • Page Numbers: pp.38-51
  • Open Archive Collection: AVESIS Open Access Collection
  • Hacettepe University Affiliated: Yes

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.