Focal Pachypolymicrogyria in Three Siblings

Yoshimura, Kazuya; Hamada, Fumihiko; Tomoda, Takashi; Wakiguchi, Hiroshi; Kurashige, Takanobu

doi:10.1016/s0887-8994(97)00214-2

Cited by 26 publications

(17 citation statements)

References 11 publications

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“…In addition to the expected more-severe expression of the disorder in male individuals with an X-linked trait, 31 high intrafamilial variability in the extent and symmetry of the cortical abnormality has been observed in individuals of the same sex. 32,34 It is therefore possible that distinct forms of regional polymicrogyrias may either result from abnormalities of several developmental genes with different area-specific expression 35 or from variable topographic expression of the same gene or genes. 32,34 It is therefore possible that distinct forms of regional polymicrogyrias may either result from abnormalities of several developmental genes with different area-specific expression 35 or from variable topographic expression of the same gene or genes.…”

Section: Resultsmentioning

confidence: 99%

Bilateral frontal polymicrogyria

et al. 2000

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Section: Resultsmentioning

confidence: 99%

Bilateral frontal polymicrogyria

et al. 2000

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“…It is unclear whether these pathologically documented cases represent a single malformative spectrum with the same etiology or different malformations with the same topography. Several families with multiple affected members have been reported, indicating genetic heterogeneity with possible autosomal recessive [Guerreiro et al, 2000], Xlinked dominant [Borgatti et al, 1999], and X-linked recessive [Yoshimura et al, 1998] inheritance.…”

Section: Bilateral Perisylvian Polymicrogyriamentioning

confidence: 99%

Epilepsy and genetic malformations of the cerebral cortex

Guerrini

Carrozzo²

2001

Am. J. Med. Genet.

188

181

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Malformations of the cerebral cortex are an important cause of developmental disabilities and epilepsy. Here we review those malformations for which a genetic basis has been elucidated or is suspected and the types of associated epilepsy. Schizencephaly (cleft brain) has a wide anatomo-clinical spectrum, including partial epilepsy in most patients. Familial occurrence is rare. Heterozygous mutations in the EMX2 gene were reported in 13 patients. X-linked bilateral periventricular nodular heterotopia (BPNH) consists of typical BPNH with epilepsy in females and prenatal lethality in males. About 88% of patients have partial epilepsy. Filamin A mutations, all leading to a truncated protein, have been reported in three families and in sporadic patients. The most frequent forms of lissencephaly (agyria-pachygyria) are caused by mutations of LIS1. XLIS mutations cause classical lissencephaly in hemizygous males and subcortical band heterotopia (SBH) in heterozygous females. The thickness of the heterotopic band and the degree of pachygyria correlate with the likelihood of developing Lennox-Gastaut syndrome. Mutations of the coding region of XLIS were found in all reported pedigrees and in 38-91% of sporadic female patients with SBH. With few exceptions, children with LIS1 mutations have isolated lissencephaly, with severe developmental delay and infantile spasms. Autosomal recessive lissencephaly with cerebellar hypoplasia, accompanied by severe developmental delay, seizures, and hypotonia has been associated with mutations of the reelin gene. Fukuyama congenital muscular dystrophy is due to mutations of the fukutin gene and is accompanied by polymicrogyria. Febrile seizures and epilepsy with generalized tonic-convulsions appear in about 50% of children but are usually not severe. Tuberous sclerosis (TS) is caused by mutations in at least two genes, TSC1 and TSC2; 75% of cases are sporadic; 60% of patients have epilepsy, manifested in 50% of them as infantile spasms. TSC1 mutations seem to cause a milder disease with fewer cortical tubers and lower frequency of seizures. Among several syndromes featuring polymicrogyria, bilateral perisylvian polymicrogyria had familial occurrence on several occasions. Genetic heterogeneity is likely, including autosomal recessive, X-linked dominant, X-linked recessive inheritance, and association with 22q11.2 deletions. About 65% of patients have severe epilepsy, often Lennox-Gastaut syndrome.

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“…3 Most reported unilateral cases have been sporadic, with no indication of an obvious genetic cause, but the existence of families in which unilateral and bilateral PMG coexist raises the possibility of shared genetic influences. 4,5 We sought to identify and study families in which unilateral PMG was present in more than one individual.Methods. For all subjects, the diagnosis of PMG was made based on brain MRI; in one case, PMG was also confirmed pathologically.…”

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confidence: 99%

A familial syndrome of unilateral polymicrogyria affecting the right hemisphere

Chang

Apse²,

Caraballo³

et al. 2006

Neurology

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A number of familial syndromes of bilateral polymicrogyria (PMG) have been described, but reported unilateral PMG cases have generally been sporadic. The authors identified four families in which unilateral right-sided PMG on MRI was present in more than one individual, with pathologic confirmation in one. Core clinical features included contralateral hemiparesis, developmental delay, and focal seizures. The authors' findings suggest that unilateral PMG exists in a familial syndrome of probable germline genetic origin.

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Focal Pachypolymicrogyria in Three Siblings

Cited by 26 publications

References 11 publications

Bilateral frontal polymicrogyria

Bilateral frontal polymicrogyria

Epilepsy and genetic malformations of the cerebral cortex

A familial syndrome of unilateral polymicrogyria affecting the right hemisphere

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