Neurocristopathies: classification
Evidence-based neurology checklist on neurocristopathies: classification: Established neurocristopathies Waardenburg syndrome Hirschsprung disease (HSCR): absent enteric ganglia Neuroblastoma: sympathetic ganglia and adrenal medulla tumours Treacher Collins syndrome Congenital central…
Established neurocristopathies
- Waardenburg syndrome
- Hirschsprung disease (HSCR): absent enteric ganglia
- Neuroblastoma: sympathetic ganglia and adrenal medulla tumours
- Treacher Collins syndrome
- Congenital central hypoventilation syndrome (CSHS): Ondine’s curse syndrome
Perivascular epitheliod cell tumours (PEComas)
Fryn’s syndrome
Other proposed neurocristopathies
References
- Fernandez-Flores A. Evidence on the neural crest origin of PEComas. Rom J Morphol Embryol 2011; 52:7-13.
- Nagashimada M, Ohta H, Li C, et al. Autonomic neurocristopathy-associated mutations in PHOX2B dysregulate Sox10 expression. J Clin Invest 2012; 122:3145-3158.
- Bogdanova-Mihaylova P, Alexander MD, Murphy RPJ, Murphy SM. Waardenburg syndrome: a rare cause of inherited neuropathy due to SOX10 mutation. J Peripher Nerv Syst 2017; 22:219-223.
- Fernández RM, Núñez-Ramos R, Enguix-Riego MV, et al. Waardenburg syndrome type 4: report of two new cases caused by SOX10 mutations in Spain. Am J Med Genet A 2014; 164A:542-547.
- Trainor PA, Dixon J, Dixon MJ. Treacher Collins syndrome: etiology, pathogenesis and prevention. Eur J Hum Genet 2009; 17:275-283.
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