Primary Ciliary Dyskinesia and Hydrocephalus With Aqueductal Stenosis

Vieira, José Pedro; Lopes, Patrícia; Silva, Rita

doi:10.1177/0883073811429856

Cited by 43 publications

(21 citation statements)

References 25 publications

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“…Cases of primary ciliary dyskinesia-associated hydrocephalus in humans have previously been reported, although the causative mutations have not been identified. 3,6,10,14,21,31,37,39 We observed a pathogenic CNV involving DNAH14 in only one family in the present study, although it is possible that techniques such as next-generation sequencing would identify other hydrocephalus-associated mutant genes in these patients, including those in Family 1. CNV involving DNAH14 had been reported in DGV (Fig.…”

Section: Discussionmentioning

confidence: 58%

Panventriculomegaly with a wide foramen of Magendie and large cisterna magna

Kageyama

Miyajima

Ogino

et al. 2016

JNS

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C ertain congenital anomalies of adult-onset hydrocephalus share clinical symptoms with idiopathic normal pressure hydrocephalus (iNPH), such as long-standing overt ventriculomegaly, aqueductal stenosis, 29 and Blake's pouch cyst. 8 However, no disease-associated gene mutations have been identified, including those responsible for these congenital diseases. Moreover, although L1CAM mutations can cause aqueductal stenosis, patients carrying these mutations have clinical features different from patients with NPH. obJective The authors' goal in this paper is to provide the first clinical, radiological, and genetic studies of panventriculomegaly (PaVM) defined by a wide foramen of Magendie and large cisterna magna. methods Clinical and brain imaging data from 28 PaVM patients (including 10 patients from 5 families) were retrospectively studied. Five children were included. In adult patients, the age at onset was 56.0 ± 16.7 years. Tetraventricular dilation, aqueductal opening with flow void on T2-weighted images, and a wide foramen of Magendie and large cisterna magna (wide cerebrospinal fluid space at the fourth ventricle outlet) were essential MRI findings for PaVM diagnosis. 3D fast asymmetrical spin echo sequences were used for visualization of cistern membranes. Time-spatial labeling inversion pulse examination was performed to analyze cerebrospinal fluid movement. Copy number variations were determined using high-resolution microarray and were validated by quantitative polymerase chain reaction with breakpoint sequencing. results Adult patients showed gait disturbance, urinary dysfunction, and cognitive dysfunction. Five infant patients exhibited macrocranium. Patients were divided into 2 subcategories, those with or without downward bulging third ventricular floors and membranous structures in the prepontine cistern. Patients with bulging floors were successfully treated with endoscopic third ventriculostomy. Genetic analysis revealed a deletion in DNAH14 that encodes a dynein heavy chain protein associated with motile cilia function, and which co-segregated with patients in a family without a downward bulging third ventricular floor. coNclusioNs Panventriculomegaly with a wide foramen of Magendie and a large cisterna magna may belong to a subtype of congenital hydrocephalus with familial accumulation, younger age at onset, and symptoms of normal pressure hydrocephalus. In addition, a family with PaVM has a gene mutation associated with dysfunction of motile cilia.

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Section: Discussionmentioning

confidence: 58%

Panventriculomegaly with a wide foramen of Magendie and large cisterna magna

Kageyama

Miyajima

Ogino

et al. 2016

JNS

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“…ACCEPTED MANUSCRIPT 34 cilia-promoted CSF streaming along ependyma; this hydrocephalus, confirmed by sonographic marking (Wessels et al, 2003), is associated with aqueductal stenosis (Vieira et al, 2012)). The insertionally-mutated axonemal dynein heavy chain gene in mice (Mdnah5) also occurs in humans (DNAH5) with PCD (Ibanez-Tallon et al, 2002).…”

Section: Accepted Manuscriptmentioning

confidence: 96%

A balanced view of the cerebrospinal fluid composition and functions: Focus on adult humans

Spector

Snodgrass

Johanson

2015

Experimental Neurology

347

240

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In this review, a companion piece to our recent examination of choroid plexus (CP), the organ that secretes the cerebrospinal fluid (CSF), we focus on recent information in the context of reliable older data concerning the composition and functions of adult human CSF. To accomplish this, we define CSF, examine the methodology employed in studying the CSF focusing on ideal or near ideal experiments and discuss the pros and cons of several widely used analogical descriptions of the CSF including: the CSF as the "third circulation," the CSF as a "nourishing liquor," the similarities of the CSF/choroid plexus to the glomerular filtrate/kidney and finally the CSF circulation as part of the "glymphatic system." We also consider the close interrelationship between the CSF and extracellular space of brain through gap junctions and the paucity of data suggesting that the cerebral capillaries secrete a CSF-like fluid. Recently human CSF has been shown to be in dynamic flux with heart-beat, posture and especially respiration. Functionally, the CSF provides buoyancy, nourishment (e.g., vitamins) and endogenous waste product removal for the brain by bulk flow into the venous (arachnoid villi and nerve roots) and lymphatic (nasal) systems, and by carrier-mediated reabsorptive transport systems in CP. The CSF also presents many exogenous compounds to CP for metabolism or removal, indirectly cleansing the extracellular space of brain (e.g., of xenobiotics like penicillin). The CSF also carries hormones (e.g., leptin) from blood via CP or synthesized in CP (e.g., IGF-2) to the brain. In summary the CP/CSF, the third circulation, performs many functions comparable to the kidney including nourishing the brain and contributing to a stable internal milieu for the brain. These tasks are essential to normal adult brain functioning.

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“…Several additional syndromes are associated with hydrocephalus, including the mucopolysaccharidoses [87], Sotos syndrome [87], Peter's Plus syndrome [88] , primary ciliary dyskinesia [89, 90], Gorlin syndrome [91], and Rothmund-Thomson syndrome [92]. In addition to these single-gene disorders, many cytogenetic abnormalities have been linked to hydrocephalus, including microdeletion 9q22.3 [93], partial trisomy 1 [94], deletion 6q26q27 [95, 96], terminal duplication of 7q [97], as well as Trisomy 13, 18, 21 and triploidy [2].…”

Section: Hydrocephalus Accompanied By Other Physical Features (Table 2)mentioning

confidence: 99%

Infantile hydrocephalus: A review of epidemiology, classification and causes

Tully¹,

Dobyns²

2014

European Journal of Medical Genetics

317

246

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Hydrocephalus is a common but complex condition caused by physical or functional obstruction of CSF flow that leads to progressive ventricular dilatation. Though hydrocephalus was recently estimated to affect 1.1 in 1,000 infants, there have been few systematic assessments of the causes of hydrocephalus in this age group, which makes it a challenging condition to approach as a scientist or as a clinician. Here, we review contemporary literature on the epidemiology, classification and pathogenesis of infantile hydrocephalus. We describe the major environmental and genetic causes of hydrocephalus, with the goal of providing a framework to assess infants with hydrocephalus and guide future research.

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Primary Ciliary Dyskinesia and Hydrocephalus With Aqueductal Stenosis

Cited by 43 publications

References 25 publications

Panventriculomegaly with a wide foramen of Magendie and large cisterna magna

Panventriculomegaly with a wide foramen of Magendie and large cisterna magna

A balanced view of the cerebrospinal fluid composition and functions: Focus on adult humans

Infantile hydrocephalus: A review of epidemiology, classification and causes

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