Agenesis of the corpus callosum: causes

Evidence-based neurology checklist on agenesis of the corpus callosum: causes: A-C Acrocallosal syndrome Agenesis of the corpus callosum with fatal lactic acidosis (MRPS16) Agenesis of the corpus callosum with ectodermal dysplasia Aicardi syndrome Andermann syndrome AMPD2 gene mutation Apert…

A-C

  • Acrocallosal syndrome
  • Agenesis of the corpus callosum with fatal lactic acidosis (MRPS16)
  • Agenesis of the corpus callosum with ectodermal dysplasia
  • Aicardi syndrome
  • Andermann syndrome
  • AMPD2 gene mutation
  • Apert syndrome
  • ATR-X syndrome
  • Basal cell nevus syndrome
  • Cogan syndrome
  • Coffin Siris syndrome
  • Craniofrontonasal syndrome
  • CRASH/MASA syndromes (L1CAM)
  • Chromosomal rearrangements
  • Chudley-McCullough syndrome

D-L

M-P

R-Z

References

  1. Paul LK, Brown WS, Adolphs R, et al. Agenesis of the corpus callosum: genetic, developmental and functional aspects of connectivity. Nat Rev Neurosci 2007; 8:287-299.
  2. Schell-Apacik CC, Wagner K, Bihler M, et al. Agenesis and dysgenesis of the corpus callosum: clinical, genetic and neuroimaging findings in a series of 41 patients. Am J Med Genet A 2008; 146A:2501-2511. 
  3. Marsh AP, Lukic V, Pope K, et al. Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss. Neurol Genet 2015; 1:e16.
  4. Nadkarni TD, Menon RK, Shah AH, Goel A. Chudley McCullough syndrome. Childs Nerv Syst 2008; 24:541-544. 
  5. Salinas S, Proukakis C, Crosby A, Warner TT. Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms. Lancet Neurol 2008; 7:1127-1138.
  6. And 3 more. Subscribe to see the full list

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