Congenital progressive muscular dystrophy of the fukuyama type — clinical, genetic and pathological considerations —

Fukuyama, Yukio; Ōsawa, Makiko; Suzuki, Haruko

doi:10.1016/s0387-7604(81)80002-2

Cited by 455 publications

(220 citation statements)

References 21 publications

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“…These conditions include Muscle-Eye-Brain disease, WalkerWarburg syndrome, and Fukuyama congenital muscular dystrophy (Fukuyama et al, 1981;Haltia et al, 1997;Kobayashi et al, 1998;Cormand et al, 2001). Affected patients present with a myriad of abnormalities, including cobblestone cortex, severe mental retardation, seizures, muscular dystrophy, and cerebellar and ocular abnormalities (Muntoni and Voit, 2004).…”

Section: Role Of Ilk In the Pathogenesis Of Congenital Muscular Dystrmentioning

confidence: 99%

Integrin-Linked Kinase Deletion from Mouse Cortex Results in Cortical Lamination Defects Resembling Cobblestone Lissencephaly

Niewmierzycka¹,

Mills²,

St‐Arnaud³

et al. 2005

J. Neurosci.

116

100

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Integrin-linked kinase (Ilk) is a scaffold and kinase that links integrin receptors to the actin cytoskeleton and to signaling pathways involved in cell adhesion, migration, and extracellular matrix deposition. Targeted deletion of Ilk from embryonic mouse dorsal forebrain neuroepithelium results in severe cortical lamination defects resembling cobblestone (type II) lissencephaly. Defects in adult mutants include neuronal invasion of the marginal zone, downward displacement of marginal zone components, fusion of the cerebral hemispheres, and scalloping of the dentate gyrus. These lesions are associated with abundant astrogliosis and widespread fragmentation of the basal lamina at the cortical surface. During cortical development, neuronal ectopias are associated with severe disorganization of radial glial processes and displacement of Cajal-Retzius cells. Lesions are not seen when Ilk is specifically deleted from embryonic neurons. Interestingly, targeted Ilk deletion has no effect on proliferation or survival of cortical cells or on phosphorylation of two Ilk substrates, Pkb/Akt and Gsk-3␤, suggesting that Ilk does not regulate cortical lamination via these enzymes. Instead, Ilk acts in vivo as a major intracellular mediator of integrin-dependent basal lamina formation. This study demonstrates a critical role for Ilk in cortical lamination and suggests that Ilk-associated pathways are involved in the pathogenesis of cobblestone lissencephalies.

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Section: Role Of Ilk In the Pathogenesis Of Congenital Muscular Dystrmentioning

confidence: 99%

Integrin-Linked Kinase Deletion from Mouse Cortex Results in Cortical Lamination Defects Resembling Cobblestone Lissencephaly

Niewmierzycka¹,

Mills²,

St‐Arnaud³

et al. 2005

J. Neurosci.

116

100

View full text Add to dashboard Cite

show abstract

“…13 Other abnormalities include fusion of the frontal lobes, hydrocephalus, periventricular cysts, optic nerve atrophy, hypoplasia of pyramidal tracts, reduction in anterior THE CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES horn cell in numbers and inflammatory changes in the leptomeninges. 6 The important hallmarks in FCMD are early onset hypotonia, facial muscle involvement, severe mental retardation along with congenital degenerative changes in muscle and highly elevated CK levels. Our case fits into this group with its unique features, though we lack radio-anatomical correlation of the CNS.…”

Section: Discussionmentioning

confidence: 99%

“…-5 Among these FCMD is distinguished by developmental central nervous system (CNS) abnormalities, severe mental retardation and related symptomatology. 6 In Japan this seems to be one of the frequent causes of the floppy infant syndrome, whereas outside Japan the association of CMD with CNS involvement is very rare, and only a few cases have been reported. 78 We report a case of FCMD observed in a 27 month old Turkish child.…”

mentioning

confidence: 99%

Fukuyama Type Congenital Muscular Dystrophy in a Turkish Child

Topaloǧlu

Renda²,

Göğüş³

et al. 1990

Can. j. neurol. sci.

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Congenital muscular dystrophy (CMD) is a heterogeneous group of disorders which is associated with more or less degrees of cerebral involvement. There are four separate entities within CMD nosology. Among these Fukuyama's CMD (FCMD) is highly prevalent in Japan, whereas the classic form with normal or subnormal intelligence, also known as the occidental type, covers the vast majority of cases in the West. We report a case of FCMD seen in a Turkish child. RESUME: Dystrophic musculaire congenitale de type Fukuyama chez un enfant Turque La dystrophic musculaire congenitale (DMC) est un groupe heterogene de maladies qui sont associees a differents degr6s d'atteinte c6r£brale. La DMC en tant qu'entite nosologique comprend quatre entites separees. Parmi celles-ci, la DMC de Fukuyama (DMCF) a une prevalence elevee au Japon, alors que la forme classique avec une intelligence normale ou subnormale, aussi connue comme etant la forme occidentale, couvre la grande majorite des cas identifies dans 1'hemisphere ouest. Nous rapportons un cas de DMCF observee chez un enfant turque.

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“…55) It is the second most common form of childhood muscular dystrophy in Japan after Duchenne muscular dystrophy. Based on an average incidence of 3 per 100,000 population, one in ~90 persons could be a heterozygous carrier in Japan.…”

Section: Fukuyama-type Congenital Muscular Dystrophy (Fcmd)mentioning

confidence: 99%

Human genetic deficits in glycan formation.

Endo

2004

Proceedings of the Japan Academy. Ser. B: Physical and Biologic

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Glycans are associated with most proteins found in secretions and on the surface of mammalian cells. Glycans of secreted glycoproteins affect many protein properties such as solubility, stability, protease sensitivity, and polarity, while glycans on cell surface glycoproteins are involved in various cellular functions including cell-cell and cell-matrix interactions during embryogenesis, immune reactions, and tumor development. Recent advances in human genomic research together with newly developed and sensitive methods for the analysis of glycan structures have elucidated the etiology of a growing number of human genetic diseases with aberrant glycan formation. Among these diseases, defects of protein N-glycosylation and O-mannosylation are reviewed here. The former is relatively common and the latter is rather uncommon. Both types of defects lead to severe abnormalities, which indicate the importance of glycosylation. Sequencing of the human genome is essentially complete and now glycobiology becomes an important area of postgenomic research. Glycobiology is expected to produce remarkable advances in the understanding and treatment of certain genetic diseases.

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Congenital progressive muscular dystrophy of the fukuyama type — clinical, genetic and pathological considerations —

Cited by 455 publications

References 21 publications

Integrin-Linked Kinase Deletion from Mouse Cortex Results in Cortical Lamination Defects Resembling Cobblestone Lissencephaly

Integrin-Linked Kinase Deletion from Mouse Cortex Results in Cortical Lamination Defects Resembling Cobblestone Lissencephaly

Fukuyama Type Congenital Muscular Dystrophy in a Turkish Child

Human genetic deficits in glycan formation.

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