Article
Management of CLN1 Disease: International Clinical Consensus.
Pediatric neurology - 1 Jul 2021
Augustine Erika F, Adams Heather R, de Los Reyes Emily, Drago Kristen, Frazier Margie, Guelbert Norberto, Laine Minna, Levin Tanya, Mink Jonathan W, Nickel Miriam, Peifer Danielle, Schulz Angela, Simonati Alessandro, Topcu Meral, Turunen Joni A, Williams Ruth, Wirrell Elaine C, King Sharon
Abstract excerpt
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 the...
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