Pachygyria and congenital nephrosis disorder of migration and neuronal orientation

Robain, O.; Deonna, T

doi:10.1007/bf00685358

Cited by 44 publications

(14 citation statements)

References 10 publications

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“…Known entities are malformation syndromes combined with focal segmental sclerosis [26,27,28] or diffuse mesangial sclerosis [28,29,30] and genetic defects of oxidative phosphorylation [31,32]. Some of these patients may present with a congenital nephrotic syndrome [33].…”

Section: Discussionmentioning

confidence: 99%

Muscular dystonia and athetosis in six patients with congenital nephrotic syndrome of the Finnish type (NPHS1)

et al. 2005

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Congenital nephrotic syndrome of the Finnish type (NPHS1, CNF) is an autosomal recessively inherited disease occurring due to mutations in the nephrin gene (NPHS1). Two main Finnish mutations exist: Fin-major and minor, which both cause a lack of nephrin and absence of the slit diaphragm between the podocytes. This leads to severe proteinuria, nephrotic syndrome and infections, and without dialysis or renal transplantation, death in infancy. Between 1984 and 2003, six (8.6%) of the 70 NPHS1 patients diagnosed at our institution had, in addition to their renal disease, similar neurological symptoms. All six showed a severe dyskinetic cerebral palsy-like syndrome with dystonic features, athetosis and a hearing defect. The neurological symptoms became apparent during their 1st year of life and were diagnosed before 11 months of age. MRI showed increased signal intensity in T2-weighted images in the globus pallidus area. No mitochondrial gene mutations explaining the neurological symptoms were found, nor did external neurological complications explain them when compared with 29 NPHS1 control patients. Four children died at an early age: two during dialysis and two shortly after renal transplantation. Two are still alive with a functioning graft. Both have severe motor defects, but are mentally active and social.

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Section: Discussionmentioning

confidence: 99%

Muscular dystonia and athetosis in six patients with congenital nephrotic syndrome of the Finnish type (NPHS1)

et al. 2005

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“…All but one patient died before the age of 3 years. Morphological changes in the brain include a low brain weight, pachygyria with neuronal ectopies in the molecular layer and in the meninges and improperly oriented neurones and fetal aspect of the inferior olives [4]. Partial pachygyria, particularly in the temporal lobes, has also been reported [2].…”

Section: Discussionmentioning

confidence: 99%

“…Sir: In a recent issue of this journal Wiedemann and Drescher reported two new cases of the L A D D syndrome [4]. We wish to draw attention to an earlier report of this syndrome [1] and stress the importance of metacarpo-phalageal pattern analysis [3] in the detection of carriers of the mutated gene.…”

Section: Lacrimo-auriculo-dentodigital (Ladd) Syndromementioning

confidence: 98%

Congenital microcephaly, infantile spasms, psychomotor retardation, and nephrotic syndrome in two sibs

et al. 1987

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Two boys are described with congenital microcephaly, infantile spasms, psychomotor retardation and an early-onset nephrotic syndrome. The autopsy findings of one patient are described in detail. Polymicrogyria was the most prominent feature and the kidneys showed focal segmental glomerulosclerosis. These findings have been described as a clinical entity, the leading symptoms being congenital microcephaly, early-onset nephrotic syndrome and mental retardation, accompanied by various other clinical symptoms. A review of the literature suggests an autosomal recessive mode of inheritance.

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“…In GMS the onset of nephrotic syndrome occurs early in life (0-34 months, median 3 months), with no response to treatment and progressive deterioration of renal function [1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16]. The kidney biopsy findings described in GMS range from minimal change disease (MCD), mesangioproliferative glomerulonephritis, focal segmental glomerulosclerosis (FSGS) to diffuse mesangial sclerosis (DMS) [1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16]. The neurological manifestations include microcephaly, psychomotor retardation, and structural central nervous system anomalies that on gross anatomy include abnormal sulci and gyri, pachygyria, cortical atrophy, and cerebellar dysgenesis/hypoplasia, and on histopathology migrational anomalies of the neurons (neuronal heterotopias, abnormal or failed lamination of cortex) [1,2,3,4,5,6,7,8,9,10,11,12,13,…”

Section: Introductionmentioning

confidence: 99%

Podocyte proteins in Galloway-Mowat syndrome

Srivastava

Whiting

Garola

et al. 2001

Pediatric Nephrology

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Galloway-Mowat syndrome is an autosomal recessive disorder characterized by early onset nephrotic syndrome and central nervous system anomalies. Mutations in podocyte proteins, such as nephrin, alpha-actinin 4, and podocin, are associated with proteinuria and nephrotic syndrome. The genetic defect in Galloway-Mowat syndrome is as yet unknown. We postulated that in Galloway-Mowat syndrome the mutation would be in a protein that is expressed both in podocytes and neurons, such as synaptopodin, GLEPP1, or nephrin. We therefore analyzed kidney tissue from normal children (n=3), children with congenital nephrotic syndrome of the Finnish type (CNF, n=3), minimal change disease (MCD, n=3), focal segmental glomerulosclerosis (FSGS, n=3), and Galloway-Mowat syndrome (n=4) by immunohistochemistry for expression of synaptopodin, GLEPP1, intracellular domain of nephrin (nephrin-I), and extracellular domain of nephrin (nephrin-E). Synaptopodin, GLEPP1, and nephrin were strongly expressed in normal kidney tissue. Nephrin was absent, and synaptopodin and GLEPP1 expression were decreased in CNF. The expression of all three proteins was reduced in MCD and FSGS; the decrease in expression being more marked in FSGS. Synaptopodin, GLEPP1, and nephrin expression was present, although reduced in Galloway-Mowat syndrome. We conclude that the reduced expression of synaptopodin, GLEPP1, and nephrin in Galloway- Mowat syndrome is a secondary phenomenon related to the proteinuria, and hence synaptopodin, GLEPP1, and nephrin are probably not the proteins mutated in Galloway-Mowat syndrome.

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Pachygyria and congenital nephrosis disorder of migration and neuronal orientation

Cited by 44 publications

References 10 publications

Muscular dystonia and athetosis in six patients with congenital nephrotic syndrome of the Finnish type (NPHS1)

Muscular dystonia and athetosis in six patients with congenital nephrotic syndrome of the Finnish type (NPHS1)

Congenital microcephaly, infantile spasms, psychomotor retardation, and nephrotic syndrome in two sibs

Podocyte proteins in Galloway-Mowat syndrome

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