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Article

BATTEN DISEASE CAUSED BY A NOVEL MUTATION IN THE PPT1 GENE.

Retinal cases & brief reports - 1 Jan 2016

Metelitsina Tatyana I, Waggoner Darrel J, Grassi Michael A

Abstract excerpt

PURPOSE: To report a case of Batten disease due to a previously unreported mutation in PPT1. METHODS: A 9-year-old girl presented with classic clinical findings of Batten Disease. RESULTS: Genetic testing for the mutations in the most common Batten disease gene, CLN3, was negative. Evaluation of a panel of genes known to be implicated in neuronal ceroid lipofuscinoses revealed disease causing mutations in PPT1,...

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Source

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Identifiers

PMID: 26510000
DOI: 10.1097/ICB.0000000000000227
PMCID: PMC4851602

Genes

PPT1
CLN3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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