Genetics of the polymicrogyria syndromes

Jansen, Anna; Andermann, Eva

doi:10.1136/jmg.2004.023952

Cited by 148 publications

(151 citation statements)

References 97 publications

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“…A majority of dogs described have disease most consistent with the bilateral occipital or parieto-occipital pattern of human polymicrogyria. 3,7,8 A consistent histologic subtype was not determined.…”

Section: Discussionmentioning

confidence: 99%

“…1,2 Several etiologies have been proposed in human beings with this condition, including ischemic events, in utero viral infection, and genetic disorders. 1,3 This disease is reported in 4 dogs, all Standard Poodles, and in cattle. 2,[4][5][6] The dogs in the initial report were juveniles and all had cortical blindness, with or without additional neurologic deficits.…”

mentioning

confidence: 99%

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Polymicrogyria in Standard Poodles

Jurney

Haddad

Crawford

et al. 2009

Veterinary Internal Medicne

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Background: Polymicrogyria is a disorder of cerebrocortical migration resulting in increased numbers of small, disorganized gyri. This disorder occurs in Standard Poodles and in cattle.Objectives: To describe the clinical, electroencephalographic, imaging, and histopathologic features in poodles with polymicrogyria.Animals: Five Standard Poodles with histologically confirmed polymicrogyria. Methods: Retrospective case series. Cases were obtained by personal communication with 1 of 2 authors (TJVW, DPO). Results: All dogs had cortical blindness and other neurologic abnormalities including gait and behavioral changes. Magnetic resonance imaging of 3 dogs showed multiple disorganized gyri, which were especially apparent on T2-weighted dorsal plane images. Electroencephalogram (EEG) of 1 dog revealed epileptiform discharges, including both spike and spike and wave discharges with voltage maximum potentials over the parietal/occipital region. The EEG supported that the repetitive behavior displayed by the dog was a complex partial motor seizure. One dog had concurrent hydrocephalus. All dogs had occipital lobe involvement and 2 dogs had involvement of other lobes.Clinical Importance:The cases presented here demonstrate a larger age range (7 weeks to 5 years) and a decreased frequency of associated hydrocephalus when compared with the previous report.

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Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 99%

Polymicrogyria in Standard Poodles

Jurney

Haddad

Crawford

et al. 2009

Veterinary Internal Medicne

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“…The inheritance pattern is still unclear although the mutations are thought to be autosomal dominant 93 . Initial reports suggest that EMX2 gene mutations may be associated with type II schizencephaly 92 ; however, this finding needs to be confirmed in additional studies.…”

Section: Polymicrogyria and Schizencephalymentioning

confidence: 99%

Malformations of Cortical Development

Pang¹,

Atefy²,

Sheen³

2008

The Neurologist

144

135

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“…Different patterns of PMG have been described, including a number of bilateral PMG syndromes (Leventer et al 2010). PMG is a highly heterogeneous malformation, resulting from both genetic and destructive events, including infection, hypoxia-ischaemia, and trauma (Jansen & Andermann, 2005). In many cases even combined analysis of imaging, pathology and genetic studies is unable to identify the underlying aetiology.…”

Section: Polymicrogyriamentioning

confidence: 99%

Abnormal development of the human cerebral cortex

Squier

Jansen

2010

Journal of Anatomy

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This review presents an overview of human cortical malformation based on the insights gained from examination of human fetal brains. Examination at early stages of fetal brain development allows the identification of the specific pathways which are disrupted in human cortical malformation. Detailed examination of human fetal brains in parallel with studies of genetics and animal models is leading to new concepts of cortical malformations. Here we review a range of human cortical malformations based on a simple classification according to the developmental process thought to be disrupted: neuroblast proliferation, undermigration, overmigration, cortical maturation and destructive lesions. A single case example of a dated intrauterine injury illustrates the spectrum of malformations which may result at a single period in development. The recommended methods of examination of human fetal brain are described together with some of their pitfalls. Detailed neuropathological observations indicate the need for caution in the classification of malformations; radiological findings and pathology of the mature brain do not reflect the specific disruptive pathways of cortical malformations. While many insults may lead to the same pattern of malformation, a single insult can lead to multiple patterns of malformation. Our detailed studies of the human fetal brain suggest that the interface between the meninges and the radial glial end feet may be an intriguing new focus of interest in understanding cortical development.

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Genetics of the polymicrogyria syndromes

Cited by 148 publications

References 97 publications

Polymicrogyria in Standard Poodles

Polymicrogyria in Standard Poodles

Malformations of Cortical Development

Abnormal development of the human cerebral cortex

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