Congenital hydrocephalus internus and aqueduct stenosis: aetiology and implications for genetic counselling

Haverkamp, F.; Wölfle, Joachim; Aretz, M.; Krämer, Anja; Hohmann, Beat W.; Fahnenstich, Hubert; Zerres, Klaus

doi:10.1007/s004310051123

Cited by 59 publications

(39 citation statements)

References 24 publications

(30 reference statements)

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“…111 There is growing evidence that genetic factors can be involved in the pathogenesis of hydrocephalus in humans, 77,87,92 and an estimated 40% of human cases have a genetic component. 42 However, to date, mutations in only 1 human gene (L1CAM) have been definitively linked to the development of congenital hydrocephalus, and these cases account for only 5% to 15% of likely hereditary cases. 58 The identification of the specific genes responsible for the development of congenital hydrocephalus in humans is complicated by the likely involvement of multiple genes and genetic background effects.…”

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confidence: 99%

Congenital Hydrocephalus in Genetically Engineered Mice

et al. 2011

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There is evidence that genetic factors play a role in the complex multifactorial pathogenesis of hydrocephalus. Identification of the genes involved in the development of this neurologic disorder in animal models may elucidate factors responsible for the excessive accumulation of cerebrospinal fluid in hydrocephalic humans. The authors report here a brief summary of findings from 12 lines of genetically engineered mice that presented with autosomal recessive congenital hydrocephalus. This study illustrates the value of knockout mice in identifying genetic factors involved in the development of congenital hydrocephalus. Findings suggest that dysfunctional motile cilia represent the underlying pathogenetic mechanism in 8 of the 12 lines (Ulk4, Nme5, Nme7, Kif27, Stk36, Dpcd, Ak7, and Ak8). The likely underlying cause in the remaining 4 lines (RIKEN 4930444A02, Celsr2, Mboat7, and transgenic FZD3) was not determined, but it is possible that some of these could also have ciliary defects. For example, the cerebellar malformations observed in RIKEN 4930444A02 knockout mice show similarities to a number of developmental disorders, such as Joubert, Meckel-Gruber, and Bardet-Biedl syndromes, which involve mutations in ciliarelated genes. Even though the direct relevance of mouse models to hydrocephalus in humans remains uncertain, the high prevalence of familial patterns of inheritance for congenital hydrocephalus in humans suggests that identification of genes responsible for development of hydrocephalus in mice may lead to the identification of homologous modifier genes and susceptibility alleles in humans. Also, characterization of mouse models can enhance understanding of important cell signaling and developmental pathways involved in the pathogenesis of hydrocephalus.

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Congenital Hydrocephalus in Genetically Engineered Mice

et al. 2011

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“…A study on the etiology and presumed recurrent risk of siblings in a series of 35 patients with congenital hydrocephalus in combination with aqueduct stenosis identified a genetic etiology in 13 patients (37.1%) with an increased recurrence risk for siblings. 4) Fifteen of 155 cases of prenatally detected mild ventriculomegaly had associated chromosomal anomalies, all of which occurred in the presence of other major anomalies. 14) Although chromosomal abnormalities are rarely associated with hydrocephalus in general, a karyotype study will be necessary to investigate hereditary or familial factors that might predispose individuals to hydrocephalus.…”

Section: Discussionmentioning

confidence: 99%

“…[3][4][5][6][7][8][9][10]13) Computed tomography, ultrasonography, magnetic resonance (MR) imaging, and other supplementary techniques now allow observation of the evolution and progression of hydrocephalus from the earliest to the final stages. 3) Consequently, the concept and classification of hydrocephalus have changed.…”

Section: Introductionmentioning

confidence: 99%

Nationwide Survey of the Etiology and Associated Conditions of Prenatally and Postnatally Diagnosed Congenital Hydrocephalus in Japan

Moritake

Nagai

Miyazaki

et al. 2007

Neurol. Med. Chir.(Tokyo)

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A nationwide survey in 2000 investigated the causative and associated central nervous system (CNS) lesions of congenital hydrocephalus in Japan. The etiology and associated diseases in 393 patients with congenital hydrocephalus were analyzed and compared between 193 patients with prenatally diagnosed (fetal) hydrocephalus and 181 with postnatally diagnosed (infantile) hydrocephalus. Of 393 patients of congenital hydrocephalus, 355 (90.3%) had primary hydrocephalus and 28 (7.1%) had secondary hydrocephalus. Of 355 patients with primary hydrocephalus, 85 (23.9%) had simple hydrocephalus associated with no other CNS anomaly and 270 (76.1%) had complicated hydrocephalus associated with other CNS anomalies. Destructive cystic lesions, holoprosencephaly, and agenesis of the corpus callosum were significantly predominant in fetal hydrocephalus. Arachnoid cyst was somewhat predominant in infantile hydrocephalus. The majority of cases of congenital hydrocephalus were primary hydrocephalus and two thirds were complicated hydrocephalus. Several complications showed marked predominance in fetal hydrocephalus.

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“…It is inherited in an X-linked recessive manner and is caused by L1CAM mutations [Jouet et al, 1994;Vits et al, 1994]. Several cases of autosomal recessive or autosomal dominant nonsyndromic hydrocephalus due to aqueductal stenosis have been reported [Vanlieferinghen et al, 1987;Verhagen et al, 1998;Hamada et al, 1999;Haverkamp et al, 1999;Lapunzina et al, 2002], although the genes causing this type are currently unknown.…”

Section: Introductionmentioning

confidence: 99%

Familial hydrocephalus with normal cognition and distinctive radiological features

Basel‐Vanagaite¹,

Raas-Rotchild²,

Kornreich³

et al. 2010

American J of Med Genetics Pt A

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Hydrocephalus is a clinically and genetically heterogeneous condition. Individuals with posterior fossa abnormalities have an increased risk of developing hydrocephalus. The Dandy-Walker malformation, Dandy-Walker variant, and mega-cisterna magna (MCM) seem to represent a continuum of developmental anomalies of the posterior fossa. Here we describe the natural clinical history and the radiological features of a family with autosomal or X-linked dominant inheritance of MCM and hydrocephalus of variable severity. The affected family members demonstrate similar structural brain abnormalities including midline cyst, colpocephaly, MCM with a large posterior fossa and minimal vermian hypoplasia. The cognitive development of the affected individuals is normal. L1CAM and FOXC1 gene involvement in the pathogenesis of the disease in this family was excluded. The rare possibility of autosomal dominant or X-linked dominant inheritance and variable penetrance and expressivity must always be considered in genetic counseling of families with hereditary hydrocephalus.

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Congenital hydrocephalus internus and aqueduct stenosis: aetiology and implications for genetic counselling

Abstract: In addition to the well-known X-linked and autosomal recessive forms of aqueduct stenosis with hydrocephalus, this malformation can occur in other diseases with Mendelian inheritance. This finding is of considerable importance for genetic counselling and prognosis.

Cited by 59 publications

References 24 publications

Congenital Hydrocephalus in Genetically Engineered Mice

Congenital Hydrocephalus in Genetically Engineered Mice

Nationwide Survey of the Etiology and Associated Conditions of Prenatally and Postnatally Diagnosed Congenital Hydrocephalus in Japan

Familial hydrocephalus with normal cognition and distinctive radiological features

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