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Neurocristopathy

Neurocristopathy is a diverse class of pathologies that may arise from defects in the development of tissues containing cells commonly derived from the embryonic neural crest cell lineage.[1][2] The term was coined by Robert P. Bolande in 1974.[3]

After the induction of the neural crest, the newly formed neural crest cells (NCC) delaminate from their tissue of origin and migrate from the entire neural axis of the vertebrate embryo to specific locations where they will give rise to different cell derivatives. The formation of this cell population therefore requires a timely and spatially controlled interplay of inter- and intra-cellular signals. An alteration in the occurrence and timing of these signals leads to a set of syndromes called Neurocristopathies (NCP), which comprises a broad spectrum of congenital malformations affecting an appreciable percentage of newborns.[4] Moreover, since NCC migrate along the embryo, they are susceptible to subtle changes in the environment both during their migration and upon arrival at their destination. This means that even little modifications, either genetically or environmentally caused,[5] in the external cues that modulate NCC migration have a deep effect on the normal migration and differentiation of these cells, thus becoming a causative factor for the development of NCP.

Recently, a new classification for this group of diseases has been proposed.[6] This new criteria takes into account the axial origin of the NC population that contributes to the derived tissue affected in a particular NCP. According to this, some diseases have a single axial origin, i.e., they arise from an alteration in the development of only one NC population (e.g. cranial NCP, such as Auriculo Condylar Syndrome). However, other NCP arise from a defect in two or more NC populations (such as the CHARGE syndrome).

Accepted examples of NCP are piebaldism, Waardenburg syndrome, Hirschsprung disease, Ondine's curse (congenital central hypoventilation syndrome), pheochromocytoma, paraganglioma, Merkel cell carcinoma, multiple endocrine neoplasia, neurofibromatosis type I, CHARGE syndrome, familial dysautonomia, DiGeorge syndrome, Axenfeld-Rieger syndrome, Goldenhar syndrome (a.k.a. hemifacial microsomia), craniofrontonasal syndrome, congenital melanocytic nevus, melanoma, and certain congenital heart defects of the outflow tract. Recently, many diseases have been incorporated as NCP, mainly based on the finding of new NC derivatives. In particular, Multiple sclerosis has been suggested as being neurocristopathic in origin.[7]

The usefulness of the definition resides in its ability to refer to a potentially common etiological factor for certain neoplasms and/or congenital malformation associations that are otherwise difficult to group with other means of nosology. Moreover, the classification of NCP is intended to help physicians understand the causal mechanism that drives the formation of a certain NCP, and therefore the selection of the correct diagnostic test and therapies.

References edit

  1. ^ Etchevers, Heather C.; Amiel, Jeanne; Lyonnet, Stanislas (2006). "Molecular Bases of Human Neurocristopathies". Neural Crest Induction and Differentiation, Volume 589. Advances in Experimental Medicine and Biology. Vol. 589. pp. 213–34. doi:10.1007/978-0-387-46954-6_14. ISBN 978-0-387-35136-0. PMID 17076285.
  2. ^ Vega-Lopez, Guillermo A.; Cerrizuela, Santiago; Tribulo, Celeste; Aybar, Manuel J. (May 2018). "Neurocristopathies: New insights 150 years after the neural crest discovery". Developmental Biology. 444: S110–S143. doi:10.1016/j.ydbio.2018.05.013. ISSN 0012-1606. PMID 29802835.
  3. ^ Bolande, Robert P. (1974). "The neurocristopathies: A unifying concept of disease arising in neural crest maldevelopment". Human Pathology. 5 (4): 409–29. doi:10.1016/S0046-8177(74)80021-3.
  4. ^ Watt, Kristin E. Noack; Trainor, Paul A. (2014), "Neurocristopathies", Neural Crest Cells, Elsevier, pp. 361–394, doi:10.1016/b978-0-12-401730-6.00018-1, ISBN 9780124017306
  5. ^ Cerrizuela, Santiago; Vega-Lopez, Guillermo A.; Aybar, Manuel J. (2020). "The role of teratogens in neural crest development". Birth Defects Research. 112 (8): 584–632. doi:10.1002/bdr2.1644. ISSN 2472-1727. PMID 31926062. S2CID 210151171.
  6. ^ Vega-Lopez, Guillermo A.; Cerrizuela, Santiago; Tribulo, Celeste; Aybar, Manuel J. (May 2018). "Neurocristopathies: New insights 150 years after the neural crest discovery". Developmental Biology. 444: S110–S143. doi:10.1016/j.ydbio.2018.05.013. ISSN 0012-1606. PMID 29802835.
  7. ^ Behan, Peter O.; Chaudhuri, Abhijit (2010). "The sad plight of multiple sclerosis research (low on fact, high on fiction): Critical data to support it being a neurocristopathy". Inflammopharmacology. 18 (6): 265–90. doi:10.1007/s10787-010-0054-4. PMID 20862553. S2CID 11711382.

neurocristopathy, diverse, class, pathologies, that, arise, from, defects, development, tissues, containing, cells, commonly, derived, from, embryonic, neural, crest, cell, lineage, term, coined, robert, bolande, 1974, after, induction, neural, crest, newly, f. Neurocristopathy is a diverse class of pathologies that may arise from defects in the development of tissues containing cells commonly derived from the embryonic neural crest cell lineage 1 2 The term was coined by Robert P Bolande in 1974 3 After the induction of the neural crest the newly formed neural crest cells NCC delaminate from their tissue of origin and migrate from the entire neural axis of the vertebrate embryo to specific locations where they will give rise to different cell derivatives The formation of this cell population therefore requires a timely and spatially controlled interplay of inter and intra cellular signals An alteration in the occurrence and timing of these signals leads to a set of syndromes called Neurocristopathies NCP which comprises a broad spectrum of congenital malformations affecting an appreciable percentage of newborns 4 Moreover since NCC migrate along the embryo they are susceptible to subtle changes in the environment both during their migration and upon arrival at their destination This means that even little modifications either genetically or environmentally caused 5 in the external cues that modulate NCC migration have a deep effect on the normal migration and differentiation of these cells thus becoming a causative factor for the development of NCP Recently a new classification for this group of diseases has been proposed 6 This new criteria takes into account the axial origin of the NC population that contributes to the derived tissue affected in a particular NCP According to this some diseases have a single axial origin i e they arise from an alteration in the development of only one NC population e g cranial NCP such as Auriculo Condylar Syndrome However other NCP arise from a defect in two or more NC populations such as the CHARGE syndrome Accepted examples of NCP are piebaldism Waardenburg syndrome Hirschsprung disease Ondine s curse congenital central hypoventilation syndrome pheochromocytoma paraganglioma Merkel cell carcinoma multiple endocrine neoplasia neurofibromatosis type I CHARGE syndrome familial dysautonomia DiGeorge syndrome Axenfeld Rieger syndrome Goldenhar syndrome a k a hemifacial microsomia craniofrontonasal syndrome congenital melanocytic nevus melanoma and certain congenital heart defects of the outflow tract Recently many diseases have been incorporated as NCP mainly based on the finding of new NC derivatives In particular Multiple sclerosis has been suggested as being neurocristopathic in origin 7 The usefulness of the definition resides in its ability to refer to a potentially common etiological factor for certain neoplasms and or congenital malformation associations that are otherwise difficult to group with other means of nosology Moreover the classification of NCP is intended to help physicians understand the causal mechanism that drives the formation of a certain NCP and therefore the selection of the correct diagnostic test and therapies References edit Etchevers Heather C Amiel Jeanne Lyonnet Stanislas 2006 Molecular Bases of Human Neurocristopathies Neural Crest Induction and Differentiation Volume 589 Advances in Experimental Medicine and Biology Vol 589 pp 213 34 doi 10 1007 978 0 387 46954 6 14 ISBN 978 0 387 35136 0 PMID 17076285 Vega Lopez Guillermo A Cerrizuela Santiago Tribulo Celeste Aybar Manuel J May 2018 Neurocristopathies New insights 150 years after the neural crest discovery Developmental Biology 444 S110 S143 doi 10 1016 j ydbio 2018 05 013 ISSN 0012 1606 PMID 29802835 Bolande Robert P 1974 The neurocristopathies A unifying concept of disease arising in neural crest maldevelopment Human Pathology 5 4 409 29 doi 10 1016 S0046 8177 74 80021 3 Watt Kristin E Noack Trainor Paul A 2014 Neurocristopathies Neural Crest Cells Elsevier pp 361 394 doi 10 1016 b978 0 12 401730 6 00018 1 ISBN 9780124017306 Cerrizuela Santiago Vega Lopez Guillermo A Aybar Manuel J 2020 The role of teratogens in neural crest development Birth Defects Research 112 8 584 632 doi 10 1002 bdr2 1644 ISSN 2472 1727 PMID 31926062 S2CID 210151171 Vega Lopez Guillermo A Cerrizuela Santiago Tribulo Celeste Aybar Manuel J May 2018 Neurocristopathies New insights 150 years after the neural crest discovery Developmental Biology 444 S110 S143 doi 10 1016 j ydbio 2018 05 013 ISSN 0012 1606 PMID 29802835 Behan Peter O Chaudhuri Abhijit 2010 The sad plight of multiple sclerosis research low on fact high on fiction Critical data to support it being a neurocristopathy Inflammopharmacology 18 6 265 90 doi 10 1007 s10787 010 0054 4 PMID 20862553 S2CID 11711382 Retrieved from https en wikipedia org w index php title Neurocristopathy amp oldid 1214460848, wikipedia, wiki, book, books, library,

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