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Article

PCYT2 deficiency in Saarlooswolfdogs with progressive retinal, central, and peripheral neurodegeneration.

Molecular genetics and metabolism - 1 Mar 2024

Christen Matthias, Oevermann Anna, Rupp Stefan, Vaz Frédéric M, Wever Eric J M, Braus Barbara K, Jagannathan Vidhya, Kehl Alexandra, Hytönen Marjo K, Lohi Hannes, Leeb Tosso

Abstract excerpt

We investigated a syndromic disease comprising blindness and neurodegeneration in 11 Saarlooswolfdogs. Clinical signs involved early adult onset retinal degeneration and adult-onset neurological deficits including gait abnormalities, hind limb weakness, tremors, ataxia, cognitive decline and behavioral changes such as aggression towards the owner. Histopathology in one affected dog demonstrated cataract, retinal...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 38277988
DOI: 10.1016/j.ymgme.2024.108149

Genes

PCYT2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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