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Corpus callosum agenesis neuronopathy

Subscribe to New Research on Corpus callosum agenesis neuronopathy

Also Known As:

Agenesis of the corpus callosum with peripheral neuropathy; Andermann syndrome; Charlevoix disease; Polyneuropathy, sensorimotor, with or without agenesis of the corpus callosum

Networked: 10 relevant articles (0 outcomes, 0 trials/studies)

Bio-Agent Context: Research Results

Nervous System Diseases: 6158
- Neuromuscular Diseases: 1068
  - Peripheral Nervous System Diseases: 5557
    - Corpus callosum agenesis neuronopathy: 10
- Nervous System Malformations: 24
  - Acrocallosal Syndrome: 69
    - Corpus callosum agenesis neuronopathy: 10
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 668
- Congenital Abnormalities: 15467
  - Nervous System Malformations: 24
    - Acrocallosal Syndrome: 69
      - Corpus callosum agenesis neuronopathy: 10

Experts

1.	Bilguvar, K: 1 article (01/2013)
2.	Degerliyurt, A: 1 article (01/2013)
3.	Akgumus, G: 1 article (01/2013)
4.	Caglayan, A O: 1 article (01/2013)
5.	Caglar, C: 1 article (01/2013)
6.	Galanopoulou, Aristea S: 1 article (07/2010)
7.	von Kalle, T: 1 article (06/2009)
8.	Winkler, J: 1 article (06/2009)
9.	Hehr, U: 1 article (06/2009)
10.	Rudnik-Schöneborn, S: 1 article (06/2009)

Related Diseases

1.	Mental Retardation (Idiocy) 01/01/2013 - "People affected by Andermann syndrome have mental retardation, areflexia and severe progressive neuropathy often accompanied by psychiatric symptoms, and they typically die in the third decade of their life. " 06/01/2009 - "Andermann syndrome is a rare autosomal recessive disorder characterized by agenesis of the corpus callosum (ACC), progressive motor-sensory neuropathy, mental retardation and facial features. " 01/01/1997 - "Two males had in addition a sensorimotor neuropathy, moderate mental retardation and skeletal dysmorphism (Andermann syndrome). " 05/01/1984 - "The Andermann syndrome: agenesis of the corpus callosum associated with mental retardation and progressive sensorimotor neuronopathy."
2.	Aicardi Syndrome 01/01/2003 - "Do we consider Andermann syndrome in infants with agenesis of corpus callosum." 01/01/2003 - "Andermann syndrome is characterized by agenesis of corpus callosum, anterior horn cell disease, a mixed sensory and motor neuropathy, and facial dysmorphism, and is inherited as an autosomal recessive trait. " 03/01/1994 - "Six cases involved mendelian syndromes (3 Lissencephaly syndrome, 2 Aicardi syndrome, and 1 Andermann syndrome), and one case was associated with trisomy 13. "
3.	Polyneuropathies (Polyneuropathy) 10/01/2001 - "Andermann syndrome or Agenesis of the Corpus Callosum with Polyneuropathy (MIM 218000) is an autosomal recessive disease almost exclusively found in Québec. " 07/01/2010 - "KCC3 mutations have been associated with hereditary motor and sensory polyneuropathy with corpus callosum agenesis (Andermann syndrome) that often manifests with epileptic seizures. "
4.	Peripheral Nervous System Diseases (PNS Diseases) 01/01/2013 - "Andermann syndrome is an autosomal recessive disorder characterized by the agenesis of the corpus callosum and peripheral neuropathy (ACCPN). " 01/01/2009 - "Furthermore, recessively inherited mutations of SLC12A6 cause Andermann syndrome, characterized by agenesis of the corpus callosum, which is associated with peripheral neuropathy and psychoses. "
5.	Acrocallosal Syndrome 07/01/2010 - "KCC3 mutations have been associated with hereditary motor and sensory polyneuropathy with corpus callosum agenesis (Andermann syndrome) that often manifests with epileptic seizures. "

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