An eye on the future for defeating hydrocephalus, ciliary dyskinesia-related hydrocephalus: review article

References

• Wallmeier J, Frank D, Shoemark A, et al. De novo mutations in FOXJ1 result in a motile ciliopathy with hydrocephalus and randomization of left/right body asymmetry. Am J Hum Genet 2019;105:1030–9.
   PubMed Web of Science ®Google Scholar
• Di Rocco C, Massimi L, Tamburrini G. Shunts vs endoscopic third ventriculostomy in infants: are there different types and/or rates of complications? A review Childs Nerv Syst 2006;22:1573–89.
   PubMed Web of Science ®Google Scholar
• Ezzat AAM, Soliman MAR, Hasanain AA, et al. Migration of the distal catheter of ventriculoperitoneal shunts in pediatric age group: case series. World Neurosurg 2018;119:e131–e137.
   PubMed Web of Science ®Google Scholar
• Hasanain AA, Abdullah A, Alsawy MFM, et al. Incidence of and causes for ventriculoperitoneal shunt failure in children younger than 2 years: a systematic review. J Neurol Surg A Cent Eur Neurosurg 2019;80: 26–33.
   PubMedGoogle Scholar
• Jernigan SC, Berry JG, Graham DA, Goumnerova L. The comparative effectiveness of ventricular shunt placement versus endoscopic third ventriculostomy for initial treatment of hydrocephalus in infants: clinical article. PED 2014;13:295–300.
   PubMed Web of Science ®Google Scholar
• Rekate H. The definition and classification of hydrocephalus: a personal recommendation to stimulate debate; n.d. Available from: 10.1186/1743-8454-5-2 [last accessed 5 May 2020].
   Google Scholar
• Zhang J, Williams MA, Rigamonti D. Genetics of human hydrocephalus. J Neurol 2006;253:1255–66.
   PubMed Web of Science ®Google Scholar
• Kestle JRW, Holubkov R, Douglas Cochrane D, et al. A new hydrocephalus clinical research network protocol to reduce cerebrospinal fluid shunt infection. J Neurosurg Pediatr 2016;17:391–6.
   PubMed Web of Science ®Google Scholar
• Baird LC, Mazzola CA, Auguste KI, Klimo P, Flannery AM. Pediatric hydrocephalus: systematic literature review and evidence-based guidelines. Part 5: effect of valve type on cerebrospinal fluid shunt efficacy. J Neurosurg Pediatr 2014;14:35–43.
   PubMed Web of Science ®Google Scholar
• Wang S, Stone S, Weil AG, et al. Comparative effectiveness of flexible versus rigid neuroendoscopy for endoscopic third ventriculostomy and choroid plexus cauterization: a propensity score-matched cohort and survival analysis. J Neurosurg Pediatr 2017;19:585–91.
   PubMed Web of Science ®Google Scholar
• Limbrick DD, Baird LC, Klimo P, Riva-Cambrin J, Flannery AM. Pediatric hydrocephalus: systematic literature review and evidence-based guidelines. Part 4: cerebrospinal fluid shunt or endoscopic third ventriculostomy for the treatment of hydrocephalus in children. J Neurosurg Pediatr 2014;14:30–4.
   PubMed Web of Science ®Google Scholar
• Fallah A, Wang AC, Weil AG, Ibrahim GM, Mansouri A, Bhatia S. Predictors of outcome following cerebral aqueductoplasty: an individual participant data meta-analysis. Neurosurgery 2016;78:285–96.
   PubMed Web of Science ®Google Scholar
• Khan OH, McPhee LC, Moddemann LN, Del Bigio MR. Calcium antagonism in neonatal rats with kaolin-induced hydrocephalus. J Child Neurol 2007;22:1161–6.
   PubMed Web of Science ®Google Scholar
• Del Bigio MR, Massicotte EM. Protective effect of nimodipine on behavior and white matter of rats with hydrocephalus. J Neurosurg 2001;94:788–94.
   PubMed Web of Science ®Google Scholar
• McAllister JP. Pathophysiology of congenital and neonatal hydrocephalus. Semin Fetal Neonatal Med 2012;17:285–94.
   PubMed Web of Science ®Google Scholar
• McAllister JP, Miller JM. Minocycline inhibits glial proliferation in the H-Tx rat model of congenital hydrocephalus. Cerebrospinal Fluid Res 2010;7:7.
   PubMedGoogle Scholar
• Lee L. Riding the wave of ependymal cilia: genetic susceptibility to hydrocephalus in primary ciliary dyskinesia. J Neurosci Res 2013;91:1117–32.
   PubMed Web of Science ®Google Scholar
• Kousi M, Katsanis N. The genetic basis of hydrocephalus. Annu Rev Neurosci 2016;39:409–35.
   PubMed Web of Science ®Google Scholar
• Kahle KT, Kulkarni AV, Limbrick DD, Warf BC. Hydrocephalus in children. The Lancet 2016;387:788–99.
   PubMed Web of Science ®Google Scholar
• Liberati A, Altman DG, Tetzlaff J, et al. The PRISMA statement for reporting systematic reviews and meta-analyses of studies that evaluate health care interventions: explanation and elaboration. PLoS Med 2009;6:e1000100.
   PubMed Web of Science ®Google Scholar
• Berlucchi M, de Santi MM, Bertoni E, Spinelli E, Timpano S, Padoan R. Ciliary aplasia associated with hydrocephalus: an extremely rare occurrence. Eur Arch Otorhinolaryngol 2012;269:2295–9.
   PubMed Web of Science ®Google Scholar
• Vieira JP, Lopes P, Silva R. Primary ciliary dyskinesia and hydrocephalus with aqueductal stenosis. J Child Neurol 2012;27:938–41.
   PubMed Web of Science ®Google Scholar
• Kosaki K, Ikeda K, Miyakoshi K, et al. Absent inner dynein arms in a fetus with familial hydrocephalus-situs abnormality. Am J Med Genet A 2004;129A:308–11.
   PubMed Web of Science ®Google Scholar
• Al-Shroof M, Karnik AM, Karnik AA, Longshore J, Sliman NA, Khan FA. Ciliary dyskinesia associated with hydrocephalus and mental retardation in a Jordanian family. Mayo Clin Proc 2001;76:1219–24.
   PubMed Web of Science ®Google Scholar
• Zammarchi E, Calzolari C, Pignotti MS, Pezzati P, Lignana E, Cama A. Unusual presentation of the immotile cilia syndrome in two children. Acta Paediatr 1993;82:312–3.
   PubMed Web of Science ®Google Scholar
• De Santi MM, Magni A, Valletta EA, Gardi C, Lungarella G. Hydrocephalus, bronchiectasis, and ciliary aplasia. Arch Dis Child 1990;65:543–4.
   PubMed Web of Science ®Google Scholar
• Greenstone MA, Jones RW, Dewar A, Neville BG, Cole PJ. Hydrocephalus and primary ciliary dyskinesia. Arch Dis Child 1984;59:481–2.
   PubMed Web of Science ®Google Scholar
• Klysik M. Ciliary syndromes and treatment. Pathol Res Pract 2008;204:77–88.
   PubMed Web of Science ®Google Scholar
• Afzelius BA. Cilia-related diseases. J Pathol 2004;204:470–7.
   PubMed Web of Science ®Google Scholar
• Wheway G, Abdelhamed Z, Natarajan S, Toomes C, Inglehearn C, Johnson CA. Aberrant Wnt signalling and cellular over-proliferation in a novel mouse model of Meckel-Gruber syndrome. Dev Biol 2013;377:55–66.
   PubMed Web of Science ®Google Scholar
• Hirschner W, Pogoda H-M, Kramer C, et al. Biosynthesis of Wdr16, a marker protein for kinocilia-bearing cells, starts at the time of kinocilia formation in rat, and wdr16 gene knockdown causes hydrocephalus in zebrafish. J Neurochem 2007;101:274–88.
   PubMed Web of Science ®Google Scholar
• Ibañez-Tallon I, Gorokhova S, Heintz N. Loss of function of axonemal dynein Mdnah5 causes primary ciliary dyskinesia and hydrocephalus. Hum Mol Genet 2002;11:715–21.
   PubMed Web of Science ®Google Scholar
• Kobayashi Y, Watanabe M, Okada Y, et al. Hydrocephalus, situs inversus, chronic sinusitis, and male infertility in DNA polymerase lambda-deficient mice: possible implication for the pathogenesis of immotile cilia syndrome. Mol Cell Biol 2002;22:2769–76.
   PubMed Web of Science ®Google Scholar
• Picco P, Leveratto L, Cama A, et al. Immotile cilia syndrome associated with hydrocephalus and precocious puberty: a case report. Eur J Pediatr Surg 1993;3:20–1.
   PubMed Web of Science ®Google Scholar
• Jabourian Z, Lublin FD, Adler A, Gonzales C, Northrup B, Zwillenberg D. Hydrocephalus in Kartagener’s syndrome. Ear Nose Throat J 1986;65:468–72.
   PubMedGoogle Scholar
• Olbrich H, Schmidts M, Werner C, et al. Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry. Am J Hum Genet 2012;91:672–84.
   PubMed Web of Science ®Google Scholar
• Moses M, Ranger A, Yazdani A. Acute cranial decompression in Meckel-Gruber syndrome and slit-ventricle syndrome with craniocephalic disproportion. J Craniofac Surg 2011;22:2288–91.
   PubMed Web of Science ®Google Scholar
• Alby C, Piquand K, Huber C, et al. Mutations in KIAA0586 cause lethal ciliopathies ranging from a hydrolethalus phenotype to short-rib polydactyly syndrome. Am J Hum Genet 2015;97:311–8.
   PubMed Web of Science ®Google Scholar
• Siyahhan B, Knobloch V, de Zélicourt D, et al. Flow induced by ependymal cilia dominates near-wall cerebrospinal fluid dynamics in the lateral ventricles. J R Soc Interface 2014;11:20131189.
   PubMed Web of Science ®Google Scholar
• :Valente EM, Rosti RO, Gibbs E, Gleeson JG. Primary cilia in neurodevelopmental disorders. Nat Rev Neurol 2014;10:27–36.
   PubMed Web of Science ®Google Scholar
• :Thomas S, Boutaud L, Reilly ML, Benmerah A. Cilia in hereditary cerebral anomalies. Biol Cell 2019;111:217–31.
   PubMed Web of Science ®Google Scholar
• Hildebrandt F, Benzing T, Katsanis N. Ciliopathies. N Engl J Med 2011;364:1533–43.
   PubMed Web of Science ®Google Scholar
• :Wessels MW, den Hollander NS, Willems PJ. Mild fetal cerebral ventriculomegaly as a prenatal sonographic marker for Kartagener syndrome. Prenat Diagn 2003;23:239–42.
   PubMed Web of Science ®Google Scholar
• Roth Y, Baum GL, Tadmor R. Brain dysfunction in primary ciliary dyskinesia? Acta Neurol Scand 1988;78:353–7.
   PubMed Web of Science ®Google Scholar
• Fliegauf M, Benzing T, Omran H. When cilia go bad: cilia defects and ciliopathies. Nat Rev Mol Cell Biol 2007;8:880–93.
   PubMed Web of Science ®Google Scholar
• Goutaki M, Meier AB, Halbeisen FS, et al. Clinical manifestations in primary ciliary dyskinesia: systematic review and meta-analysis. Eur Respir J 2016;48:1081–95.
   PubMed Web of Science ®Google Scholar
• Mitchison HM, Valente EM. Motile and non-motile cilia in human pathology: from function to phenotypes. J Pathol 2017;241:294–309.
   PubMed Web of Science ®Google Scholar
• Amirav I, Wallmeier J, Loges NT, et al. Systematic analysis of CCNO variants in a defined population: implications for clinical phenotype and differential diagnosis. Hum Mutat 2016;37:396–405.
   PubMed Web of Science ®Google Scholar
• Boon M, Wallmeier J, Ma L, et al. MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia. Nat Commun 2014;5:4418.
   PubMed Web of Science ®Google Scholar
• Wallmeier J, Al-Mutairi DA, Chen C-T, et al. Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia. Nat Genet 2014;46:646–51.
   PubMed Web of Science ®Google Scholar
• :Spassky N, Meunier A. The development and functions of multiciliated epithelia. Nat Rev Mol Cell Biol 2017;18:423–36.
   PubMed Web of Science ®Google Scholar
• :Omran AJA, Saternos HC, Althobaiti YS, et al. Alcohol consumption impairs the ependymal cilia motility in the brain ventricles. Sci Rep 2017;7:13652.
   PubMed Web of Science ®Google Scholar
• :Ishikawa H, Marshall WF. Ciliogenesis: building the cell's antenna. Nat Rev Mol Cell Biol 2011;12:222–34.
   PubMed Web of Science ®Google Scholar
• Rink JC, Gurley KA, Elliott SA, Sánchez Alvarado A. Planarian Hh signaling regulates regeneration polarity and links Hh pathway evolution to cilia. Science 2009;326:1406–10.
   PubMed Web of Science ®Google Scholar
• Programmlinie 4: Deutsch-Arabische Forschungspartnerschaft - Al Tawasul - DAAD - Deutscher Akademischer Austauschdienst; n.d. Available from: https://www.daad.de/hochschulen/programme-regional/arabischer-raum/de/42005-programmlinie-deutsch-arabische-forschungspartnerschaft-al-tawasul/ [last accessed 29 Mar 2019].
   Google Scholar