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Clinical Neuroembryology pp 321–370Cite as

Development and Developmental Disorders of the Brain Stem

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Abstract

The brain stem is composed of the midbrain (the mesencephalon) and the hindbrain (the rhombencephalon), and is, at least during development, segmentally organized. The midbrain is composed of two temporarily present segments known as mesomeres, whereas the hindbrain is composed of 8, and more recently of 12, rhombomeres. The cerebellum largely arises from the first rhombomere. The brain stem also contributes 10 of the 12 cranial nerves, III -XII. A great number of genes are involved in the proper development of the brain stem. The isthmus organizer regulates the early development of the mesencephalon and of the rostral part of the rhombencephalon. Each rhombomere is characterized by a unique combination of Hox genes, its Hox code. In mice, spontaneous and targeted (knockout) mutations in these genes result in specific, rhombomere-restricted disruptions in the development of motor nuclei of cranial nerves. Such a ‘rhombomeropathy’ has recently been described for the HOXA1 gene.

In this chapter, patterning of the brain stem and its segmentation are discussed in Sect. 7.2, followed by an overview of the development and developmental disorders of the cranial nerves (Sect. 7.3). In Sect. 7.4, the development of the auditory system and some of its disorders are discussed. Clinical cases illustrate some major malformations.

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Authors and Affiliations

  1. 935 Department of Neurology, Radboud University Nijmegen Medical Centre, 9101, Nijmegen, 6500 HB, The Netherlands

    Hans J. ten Donkelaar M.D., Ph.D.

  2. Department of Ophthalmology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands

    Johannes R. M. Cruysberg M.D., Ph.D.

  3. 377 Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, 9101, Nijmegen, 6500 HB, The Netherlands

    Ronald Pennings M.D., Ph.D.

  4. Department of Pathology, University Hospital Antwerpen, Wilrijkstraat 10, Edegem, B-2650, Belgium

    Martin Lammens M.D., Ph.D.

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ten Donkelaar, H.J., Cruysberg, J.R.M., Pennings, R., Lammens, M. (2014). Development and Developmental Disorders of the Brain Stem. In: Clinical Neuroembryology. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-54687-7_7

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