agenesis of corpus callosum

Summary

Summary: Birth defect that results in a partial or complete absence of the CORPUS CALLOSUM. It may be isolated or a part of a syndrome (e.g., AICARDI'S SYNDROME; ACROCALLOSAL SYNDROME; ANDERMANN SYNDROME; and HOLOPROSENCEPHALY). Clinical manifestations include neuromotor skill impairment and INTELLECTUAL DISABILITY of variable severity.

Top Publications

  1. Mathieu J, Bédard F, Prevost C, Langevin P. [Motor and sensory neuropathies with or without agenesis of the corpus callosum: a radiological study of 64 cases]. Can J Neurol Sci. 1990;17:103-8 pubmed
    ..These observations support the hypothesis of a single genetic syndrome in which the constant manifestation is the motor and sensory neuropathy. ..
  2. Belcastro V, Striano P, Pierguidi L, Arnaboldi M, Tambasco N. Recurrent hypothermia with hyperhidrosis in two siblings: familial Shapiro syndrome variant. J Neurol. 2012;259:756-8 pubmed publisher
  3. Ho M, Moonis G, Ginat D, Eisenberg R. Lesions of the corpus callosum. AJR Am J Roentgenol. 2013;200:W1-16 pubmed publisher
  4. Palmer E, Mowat D. Agenesis of the corpus callosum: a clinical approach to diagnosis. Am J Med Genet C Semin Med Genet. 2014;166C:184-97 pubmed publisher
    ..There are a large number of genetic conditions in which ACC may be a feature. We suggest a diagnostic algorithm to help guide the clinician towards diagnosis, to provide outcome advice and to aid in genetic counseling. ..
  5. Wegiel J, Flory M, Kaczmarski W, Brown W, Chadman K, Wisniewski T, et al. Partial Agenesis and Hypoplasia of the Corpus Callosum in Idiopathic Autism. J Neuropathol Exp Neurol. 2017;76:225-237 pubmed publisher
    ..Thus, the byproduct of partial CC agenesis and hypoplasia is reduction of axonal connections between cortical areas known to be involved in behavioral alterations observed in people with autism. ..
  6. Wang M, Owen J, Mukherjee P, Raj A. Brain network eigenmodes provide a robust and compact representation of the structural connectome in health and disease. PLoS Comput Biol. 2017;13:e1005550 pubmed publisher
  7. Mohandas T, Park J, Spellman R, Filiano J, Mamourian A, Hawk A, et al. Paternally derived de novo interstitial duplication of proximal 15q in a patient with developmental delay. Am J Med Genet. 1999;82:294-300 pubmed
    ..This is the first report of an abnormal phenotype associated with a paternally derived duplication of proximal 15q shown to contain the PWS/AS region by molecular techniques. ..
  8. Tonelli A, D Angelo M, Arrigoni F, Brighina E, Arnoldi A, Citterio A, et al. Atypical adult onset complicated spastic paraparesis with thin corpus callosum in two patients carrying a novel FA2H mutation. Eur J Neurol. 2012;19:e127-9 pubmed publisher
  9. Diaz Horta O, Sirmaci A, Doherty D, Nance W, Arnos K, Pandya A, et al. GPSM2 mutations in Chudley-McCullough syndrome. Am J Med Genet A. 2012;158A:2972-3 pubmed publisher

More Information

Publications14

  1. Bhat S, Acharya U, Adeli H, Bairy G, Adeli A. Autism: cause factors, early diagnosis and therapies. Rev Neurosci. 2014;25:841-50 pubmed publisher
    ..Nuroanatomical, neurochemical, and neuroimaging biomarkers can help in the early diagnosis and treatment of ASD. This paper presents a review of the types of autism, etiologies, early detection, and treatment of ASD. ..
  2. Bramswig N, Lüdecke H, Hamdan F, Altmuller J, Beleggia F, Elcioglu N, et al. Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability. Hum Genet. 2017;136:821-834 pubmed publisher
  3. Cheyuo C, Radwan W, Ahn J, Gyure K, Qaiser R, Tomboc P. Biallelic PMS2 Mutation and Heterozygous DICER1 Mutation Presenting as Constitutional Mismatch Repair Deficiency With Corpus Callosum Agenesis: Case Report and Review of Literature. J Pediatr Hematol Oncol. 2017;39:e381-e387 pubmed publisher
    ..This report is the first to allude to a possible interaction of the mismatch repair system with DICER1 to cause corpus callosum agenesis. ..
  4. Gopal T, Leipold H. Lipomeningocele in a calf. Vet Pathol. 1979;16:610-2 pubmed
  5. Filloux F, Hoffman R, Viskochil D, Jungbluth H, Creel D. Ophthalmologic features of Vici syndrome. J Pediatr Ophthalmol Strabismus. 2014;51:214-20 pubmed publisher
    ..Most common are bilateral cataracts and relative fundus hypopigmentation. VEPs can identify misrouting of optic pathways typical of ocular albinism, thereby establishing the diagnosis in challenging cases. ..