P219: Updating the spectrum of TPP1 mutations suspected of causing CLN2 (Batten disease) to enable earlier genetic testing and inform prevalence

Genetics in Medicine Open 2026 Open access

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Authors: Sara L. Pulit, Emanuela Izzo, Sherif Khattab, Robert Power, Rachel Moore, Melissa Spear, Melisa Chuong, Vincent Plagnol, Christian Beetz, Mandy Radefeldt, Alice Piller
DOI: 10.1016/j.gimo.2026.103713
Cited by: 0

Abstract

Neuronal ceroid lipofuscinosis type 2 (CLN2 disease) is a rare autosomal recessive, rapidly progressing lysosomal storage disorder caused by variants in the TPP1 gene. Children with typical CLN2 disease begin to show signs of disease between 2-4 years of age. Their first symptom is often an unprovoked seizure combined with language delay. Other symptoms include motor difficulties and eventual blindness. Life expectancy for affected children can be as early as 6 years old or into the early teen years.

Fields of Study & Subjects

Lysosomal Storage Disorders Research Glycogen Storage Diseases and Myoclonus Metabolism and Genetic Disorders

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103713–103713
Publication date
1 January 2026
Language
EN