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Article

A mutation in canine PPT1 causes early onset neuronal ceroid lipofuscinosis in a Dachshund.

Molecular genetics and metabolism - 1 Aug 2010

Sanders Douglas N, Farias Fabiana H, Johnson Gary S, Chiang Vivian, Cook James R, O'Brien Dennis P, Hofmann Sandra L, Lu Jui-Yun, Katz Martin L

Abstract excerpt

The neuronal ceroid lipofuscinoses (NCLs) are lysosomal storage diseases characterized by progressive neurodegeneration and accumulation of autofluorescent storage granules. A 9-month-old Miniature Dachshund presented with NCL-like signs that included disorientation, ataxia, weakness, visual impairment, and behavioral changes. Neurons throughout the CNS contained autofluorescent lysosomal inclusions with granular...

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Source

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Identifiers

PMID: 20494602
DOI: 10.1016/j.ymgme.2010.04.009
PMCID: PMC2930207

Genes

PPT1
NCL

Variants

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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