Characterization of an Inherited Neurologic Syndrome in Toyger Cats with Forebrain Commissural Malformations, Ventriculomegaly and Interhemispheric Cysts

Keating, M. Kelly; Sturges, Beverly K.; Sisó, Sílvia; Wisner, Erik R.; Creighton, Erica K.; Lyons, Leslie A.

doi:10.1111/jvim.13836

Cited by 12 publications

(32 citation statements)

References 24 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In utero infection with parvovirus can cause cerebellar hypoplasia which affects the external germinal layer of the cerebellum and prevents the formation of the granular layer. Hydrocephalus and hydranencephaly have been found to occur concurrently with parvovirus infection (Tani et al 2001;Keating et al 2016). Taga et al (2000) reported acquired hydrocephalus and hydromyelia in a cat with FIP.…”

Section: Discussionmentioning

confidence: 99%

“…In cats, dilation of the cerebral ventricular system is frequently secondary to viral infection (Tani et al 2001;Benigni and Lamb 2005;Hori et al 2015;Keating et al 2016). In utero infection with parvovirus can cause cerebellar hypoplasia which affects the external germinal layer of the cerebellum and prevents the formation of the granular layer.…”

Section: Discussionmentioning

confidence: 99%

“…External hydrocephalus is described as an accumulation of CSF between the cerebral hemispheres and the overlying arachnoid membrane; internal hydrocephalus is a term commonly used to describe abnormal dilatation of the ventricular system inside the cranium (Tani et al 2001;Dewey et al 2003). Th is condition may also result from CSF overproduction, congenital malformations blocking normal fl uid drainage or from complications associated with head injuries and infections (Imamura et al 2006;Klarica et al 2009;Okada et al 2009;Pattison et al 2010;Woo et al 2010;Eskandari et al 2011;Przyborowska et al 2013;Keating et al 2016). Hydrocephalus was formerly considered to be a rare disease in veterinary medicine; however, the prevalence of the disease has increased in recent years due to the greater availability of magnetic resonance imaging.…”

mentioning

confidence: 99%

“…Magnetic resonance imaging (MRI) ex-doi: 10.17221/59/2017-VETMED aminations provide anatomical and morphological information, and they are performed to evaluate the soft tissue, joints, tendons, but especially the central nervous system (CNS) of humans and animals (Tani et al 2001;Woo et al 2010;Adamiak et al 2012;Zhalniarovich et al 2013;Hori et al 2015;Skalec et al 2016;Przyborowska et al 2017a;Zhalniarovich et al 2017a;Zhalniarovich et al 2017b). In cats, viral infections such as parvoviral infections or feline infectious peritonitis (FIP) are common causes of hydrocephalus (Tani et al 2001;Keating et al 2016). In MRI examinations, symptoms of hydrocephalus that are visualised include enlargement of the ventricles.…”

mentioning

confidence: 99%

See 3 more Smart Citations

Diagnosis of cerebral ventriculomegaly in felines using 0.25 Tesla and 3 Tesla magnetic resonance imaging

Przyborowska¹,

Adamiak²,

Holak³

et al. 2018

Vet. Med. - Czech

View full text Add to dashboard Cite

Twenty European shorthair cats with neurological disorders, aged 1-3 years and with body weights of 2.6-4.05 kg, were studied in low-field and high-field magnetic resonance imaging systems. Aims of the study were to evaluate the dilation of lateral ventricles in the examined population of cats with the use of quantitative analysis methods and to identify any differences in the results of low-and high-field magnetic resonance imaging. The average brain height was determined to 27.3 mm, and the average volume of the brain was 10 699.7 mm 3 . Moderately enlarged ventricles were observed in 16 symptomatic cats. Moderate unilateral enlargement was observed in one cat. Mild ventricular asymmetry was described in four animals. The average difference in ventricular height between measurements obtained in low-and high-field magnetic resonance imaging was 0.37 ± 0.16% and for ventricular volume it was 0.62 ± 0.29%. The magnetic resonance imaging scan did not reveal statistically significant differences in brain height or volume between healthy and cats with ventriculomegaly. The differences in the results of low-and high-field magnetic resonance imaging were not statistically significant. Described findings could facilitate the interpretation of magnetic resonance images in cats with ventriculomegaly or hydrocephalus.

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 99%

mentioning

confidence: 99%

See 2 more Smart Citations

Diagnosis of cerebral ventriculomegaly in felines using 0.25 Tesla and 3 Tesla magnetic resonance imaging

Przyborowska¹,

Adamiak²,

Holak³

et al. 2018

Vet. Med. - Czech

View full text Add to dashboard Cite

show abstract

“…An extended family of mixed-breed cats derived from the Oriental breed has been characterized clinically and histopathologically with forebrain commissural malformation concurrent with ventriculomegaly and interhemispheric cysts [20]. These cats have small rounded ear pinnae and doming of the head (Figure 1).…”

Section: Introductionmentioning

confidence: 99%

A deletion inGDF7is associated with a heritable forebrain commissural malformation concurrent with ventriculomegaly and interhemispheric cysts in cats

Creighton

Buckley

et al. 2020

Preprint

View full text Add to dashboard Cite

An inherited neurologic syndrome in a family of mixed-breed Oriental cats has been characterized as forebrain commissural malformation concurrent with ventriculomegaly and interhemispheric cysts. However, the genetic basis for this autosomal recessive syndrome in cats is unknown. Forty-three cats were genotyped on the Illumina Infinium Feline 63K iSelect DNA Array and used for analyses. Genome-wide association studies, including a sib-transmission disequilibrium test, a case-control association analysis, and homozygosity mapping, identified a critical region on cat chromosome A3. Short-read whole genome sequencing was completed for a cat trio segregating with the syndrome. A homozygous 7 bp deletion in growth differentiation factor 7 (GDF7) (c.221_227delGCCGCGC [p.Arg74Profs]) was identified in affected cats by comparison to the 99 Lives Cat variant dataset, validated using Sanger sequencing, and genotyped by fragment analyses. This variant was not identified in 192 unaffected cats in the 99Lives dataset. The variant segregated concordantly in an extended pedigree. Obligate carrier cats were heterozygous. In mice, GDF7 mRNA is expressed within the roof plate when commissural axons initiate ventrally-directed growth. This finding emphasizes the importance of GDF7 in the neurodevelopmental process in the mammalian brain. A genetic test can be developed for use by cat breeders to eradicate this variant.

show abstract

Lobar holoprosencephaly with craniofacial defects in a Friesian calf: A case report

Kisipan

Nyaga

Thuo

et al. 2020

Veterinary Medicine & Sci

View full text Add to dashboard Cite

Background Holoprosencephaly is a forebrain deformity that results from varying degrees of separation failure of cerebral hemispheres. The condition is classified based on the degree of non‐separation of the hemispheres which, in turn, determines its severity. Holoprosencephaly is usually accompanied by craniofacial defects whose severity tends to reflect the extent of brain deformities. In humans, holoprosencephaly is one of the commonest congenital brain anomalies but in animals, reported cases are scarce. The condition has multifactorial aetiology that involves interactions between several genetic and environmental factors. Case presentation A 4‐day‐old female Friesian calf with a deformed face was reported to the Faculty of veterinary medicine and surgery, Egerton University. The calf and the dam were sired by the same bull. On clinical and radiographic examination, the calf had a short snout that curved dorsally with bilateral cleft lip, right‐sided cleft jaw and a largely absent primary palate. Anatomopathological examination revealed brain deformities which included ventral fusion of frontal lobes of cerebral hemispheres, large merged lateral ventricles without septum pellucidum and fornix, hypoplastic corpus callosum, high degree of non‐separation between diencephalic structures, poorly developed hippocampal formation and hypoplastic olfactory lobe, optic chiasma, and nerve. Conclusion The case was confirmed as lobar holoprosencephaly based on characteristic anatomopathological findings. The aetiology of the defects in the present case could not be determined though they are thought to be either a result of recessive inheritance or exposure to teratogenic steroid alkaloids through materials fed to the dam during early pregnancy.

show abstract

Characterization of an Inherited Neurologic Syndrome in Toyger Cats with Forebrain Commissural Malformations, Ventriculomegaly and Interhemispheric Cysts

Cited by 12 publications

References 24 publications

Diagnosis of cerebral ventriculomegaly in felines using 0.25 Tesla and 3 Tesla magnetic resonance imaging

Diagnosis of cerebral ventriculomegaly in felines using 0.25 Tesla and 3 Tesla magnetic resonance imaging

A deletion inGDF7is associated with a heritable forebrain commissural malformation concurrent with ventriculomegaly and interhemispheric cysts in cats

Lobar holoprosencephaly with craniofacial defects in a Friesian calf: A case report

Contact Info

Product

Resources

About