Lissencephaly and microencephaly combined with hypoplasia of corpus callosum and cerebellum in a domestic cat

Herrmann, Annika; Hecht, Werner; Herden, Christiane

doi:10.1055/s-0038-1623564

Cited by 8 publications

(2 citation statements)

References 16 publications

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“…They can result from defects that involve either of the three major stages of cortical development including neurogenesis, neuronal migration and post‐migrational development 1 . Although rare, the most reported cortical malformations in dogs and cats include hydranencephaly/porencephaly, polymicrogyria, and lissencephaly 2–8 . New types of MCD have been recently added to the veterinary literature, but a classification scheme (as described in humans) has not yet been established 1,9–12 .…”

Section: Introductionmentioning

confidence: 99%

“…1 Although rare, the most reported cortical malformations in dogs and cats include hydranencephaly/porencephaly, polymicrogyria, and lissencephaly. [2][3][4][5][6][7][8] New types of MCD have been recently added to the veterinary literature, but a classification scheme (as described in humans) has not yet been established. 1,[9][10][11][12] Intractable epilepsy and cognitive delay are the main clinical signs in humans with MCD, particularly when the affected area is large.…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Clinical and MRI findings of a suspected cortical malformation presented as a giant cerebral pseudomass in a German Shepherd dog

Bongers

Gutierrez‐Quintana

Hammond

et al. 2023

Clinical Case Reports

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Clinical and MRI findings of a suspected cortical malformation presented as a giant cerebral pseudomass in a German Shepherd dog

Bongers

Gutierrez‐Quintana

Hammond

et al. 2023

Clinical Case Reports

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Diagnostic techniques to detect the epileptogenic zone: Pathophysiological and presurgical analysis of epilepsy in dogs and cats

Hasegawa

2016

The Veterinary Journal

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The use and availability of magnetic resonance imaging (MRI) and other neurosurgical devices is rapidly increasing in the field of veterinarian medicine. Coincident with these technological advances, there is an increased expectation to treat drug resistant epilepsy in dogs and cats by epilepsy surgery. However, the presurgical evaluation of epileptic animals, by using methodologies to detect the epileptogenic zone for example, have yet to become established in common practice. The epileptogenic zone, defined as the minimum amount of cortex to produce seizure freedom, consists of five conceptual cortical abnormal 'zones': symptomatogenic, irritative, seizure-onset, structurally abnormal (epileptogenic lesion) and functional deficit. These zones can now be detected by suitable modalities including ictal video monitoring, interictal non-invasive or invasive electroencephalography (EEG), ictal video-EEG, magnetoencephalography, structural and functional MRIs, or nuclear imaging. These diagnostic techniques are essential for selecting both appropriate patients and surgical techniques, and are also important in understanding the pathophysiology of epilepsy. This review describes the diagnostic techniques available for detecting each abnormal zone while considering the current veterinary status to realise future surgery for canine and feline epilepsy.

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

Creighton

Buckley

et al. 2020

Preprint

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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.

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Lissencephaly and microencephaly combined with hypoplasia of corpus callosum and cerebellum in a domestic cat

Cited by 8 publications

References 16 publications

Clinical and MRI findings of a suspected cortical malformation presented as a giant cerebral pseudomass in a German Shepherd dog

Clinical and MRI findings of a suspected cortical malformation presented as a giant cerebral pseudomass in a German Shepherd dog

Diagnostic techniques to detect the epileptogenic zone: Pathophysiological and presurgical analysis of epilepsy in dogs and cats

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

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