Neurocristopathy

Neurocristopathy is a term coined by Robert P. Bolande in 1974,^[1] referring to 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.^[2]

The phrase is used by both clinicians and developmental biologists interested in the embryological origins of human disease, as testify the over 200 peer-reviewed medical research articles and reviews listed in early 2011 in PubMed.^[3]

Accepted examples include but are not restricted to: 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, in particular.

Multiple Sclerosis has also been suggested as being neurocristopathic in origin ^[4].

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.

References

1. ^ Bolande RP (1974) "The neurocristopathies: a unifying concept of disease arising in neural crest maldevelopment". Human Pathology 5: 409–429
2. ^ Etchevers HC, Amiel J, Lyonnet S (2006). "Molecular bases of human neurocristopathies". In: Neural Crest Induction and Differentiation, ed. J.-P. Saint-Jeannet. Landes Biosciences, Georgetown, TX. ISBN: 1-58706-070-1 (also ISBN : 978-0-387-35136-0 as Advances in Experimental Medicine and Biology 2006 589: 213-34.) PMID: 17076285
3. ^ "Neurocristopathy" or "Neurocristopathies".
4. ^ The sad plight of multiple sclerosis research (low on fact, high on fiction): critical data to support it being a neurocristopathy.[1]