Evidence map›Paper›PMID 41742512›Full record

ArticleJournal of veterinary internal medicine2026

A novel hereditary encephalopathy in four related Labrador Retrievers associated with a missense variant in the ALDH5A1 gene.

Ellen Schofield, Thomas Butler, Rita Gonçalves, Louise Pettitt, Sophie Wyatt, Christopher A Jenkins, Joao Miguel De Frias, Bryan McLaughlin, Ed Pilkington, Rocio Orlandi and 5 more

Abstract read
In one paragraph

Article in Journal of veterinary internal medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

15 authors.

Ellen SchofieldCanine Genetics Centre, Department of Veterinary Medicine, University of Cambridge, Cambridge CB3 0ES,  United Kingdom.
Thomas ButlerQueen's Veterinary School Hospital, University of Cambridge, Cambridge CB3 0ES,  United Kingdom.
Rita GonçalvesDepartment of Veterinary Science, Small Animal Teaching Hospital, University of Liverpool, Leahurst, Neston CH64 7TE, United Kingdom.
Louise PettittCanine Genetics Centre, Department of Veterinary Medicine, University of Cambridge, Cambridge CB3 0ES,  United Kingdom.
Sophie WyattQueen Mother Hospital for Animals, Royal Veterinary College, Hatfield AL9 7TA, United Kingdom.
Christopher A JenkinsCanine Genetics Centre, Department of Veterinary Medicine, University of Cambridge, Cambridge CB3 0ES,  United Kingdom.
Joao Miguel De FriasQueen Mother Hospital for Animals, Royal Veterinary College, Hatfield AL9 7TA, United Kingdom.
Bryan McLaughlinCanine Genetics Centre, Department of Veterinary Medicine, University of Cambridge, Cambridge CB3 0ES,  United Kingdom.
Ed PilkingtonDepartment of Veterinary Science, Small Animal Teaching Hospital, University of Liverpool, Leahurst, Neston CH64 7TE, United Kingdom.
Rocio OrlandiDepartment of Veterinary Science, Small Animal Teaching Hospital, University of Liverpool, Leahurst, Neston CH64 7TE, United Kingdom.
Cathryn S MellershCanine Genetics Centre, Department of Veterinary Medicine, University of Cambridge, Cambridge CB3 0ES,  United Kingdom.
Paul FreemanQueen's Veterinary School Hospital, University of Cambridge, Cambridge CB3 0ES,  United Kingdom.
Helen PruntyDepartment of Chemical Pathology, Great Ormond Street Hospital NHS Trust, London WC1N 3BH,  United Kingdom.
Sally L RickettsCanine Genetics Centre, Department of Veterinary Medicine, University of Cambridge, Cambridge CB3 0ES,  United Kingdom.
Georgina HarrisQueen's Veterinary School Hospital, University of Cambridge, Cambridge CB3 0ES,  United Kingdom.

Funding

University of Cambridge Veterinary School Trust (Camvet)
6 · The paper itself

Abstract

backgroundHereditary neurodegenerative diseases occur in dogs, and a molecular diagnosis can be of value for treatment and prevention. HYPOTHESIS/

objectivesTo describe the clinical presentation of a novel encephalopathy in 4 related Labrador Retrievers. To identify a candidate causal variant for the disease using whole genome sequencing (WGS). ANIMALS: Four related Labrador Retrievers presenting between 4 and 9 months of age.

methodsCase information and clinical workup were recorded for the 4 dogs in this case series. Two cases underwent WGS to identify candidate causal variants that were validated by genotyping Labradors related and unrelated to the cases, and by screening WGS of other breeds/canid species.

resultsClinical signs in cases included paroxysmal anxiety episodes, and focal and generalized epileptic seizures. Interictal clinical and neurological examinations were normal in all cases. Magnetic resonance imaging of the brain documented bilaterally symmetrical, T2-weighted image hyperintense, T1-weighted image isointense, and non-contrast-enhancing lesions within the lentiform nuclei, caudal colliculi, substantia nigra, and cerebellar nuclei. Investigations to exclude underlying nutritional, toxic, and metabolic causes were within normal limits. All cases had 2 copies of a missense variant in the aldehyde dehydrogenase 5 family member A1 (ALDH5A1) gene that segregated as expected in the family group and was absent in 70 unrelated Labradors and 2339 WGS of multiple breeds/canids. CONCLUSIONS AND CLINICAL IMPORTANCE: The prognosis of this novel hereditary encephalopathy in a family of Labradors appears fair with reasonable clinical response to administration of anti-seizure drugs. A missense variant in ALDH5A1 has been identified as a candidate causal variant for the disease in these dogs.

Indexed as

dogfamilialgeneneurodegenerativepanic-attack-like episodesseizures

Identifiers

PMID41742512
PMCPMC12881967

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.