Peer-reviewed veterinary case report
Genetic cause of seizures and brain atrophy in Saluki puppies
By Vernau, Karen M et al.·Published in Genes·2020·Department of Surgical and Radiological Sciences, United States·View original on PubMed →
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Original publication title: A Missense Variant inAssociated with Canine Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD) in the Saluki Dog.
- Species:
- dog
Plain-English summary
Seven Saluki puppies were brought in for neurological issues, including seizures and unusual behavior. Tests showed significant brain abnormalities, including thinning of the brain's outer layer and changes in specific areas. Genetic testing revealed a mutation linked to a condition called succinic semialdehyde dehydrogenase deficiency (SSADHD), which affects how the brain processes certain neurotransmitters. The puppies had high levels of specific substances in their blood and brain, indicating a metabolic issue. Unfortunately, the treatment options for this condition are still being explored, as it is a rare genetic disorder.
People also search for: Saluki puppy seizures · neurological problems in puppies · SSADH deficiency treatment in dogs
Abstract
Dogs provide highly valuable models of human disease due to the similarity in phenotype presentation and the ease of genetic analysis. Seven Saluki puppies were investigated for neurological abnormalities including seizures and altered behavior. Magnetic resonance imaging showed a diffuse, marked reduction in cerebral cortical thickness, and symmetrical T2 hyperintensity in specific brain regions. Cerebral cortical atrophy with vacuolation (status spongiosus) was noted on necropsy. Genome-wide association study of 7 affected and 28 normal Salukis revealed a genome-wide significantly associated region on CFA 35. Whole-genome sequencing of three confirmed cases from three different litters revealed a homozygous missense variant within the aldehyde dehydrogenase 5 family member A1 () gene (XM_014110599.2: c.866G>A; XP_013966074.2: p.(Gly288Asp).encodes a succinic semialdehyde dehydrogenase (SSADH) enzyme critical in the gamma-aminobutyric acid neurotransmitter (GABA) metabolic pathway. Metabolic screening of affected dogs showed markedly elevated gamma-hydroxybutyric acid in serum, cerebrospinal fluid (CSF) and brain, and elevated succinate semialdehyde in urine, CSF and brain. SSADH activity in the brain of affected dogs was low. Affected Saluki dogs had striking similarities to SSADH deficiency in humans although hydroxybutyric aciduria was absent in affected dogs.-related SSADH deficiency in Salukis provides a unique translational large animal model for the development of novel therapeutic strategies.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/32887425/