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Genetic and Rare Diseases Information Center (GARD)

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Andermann syndrome


Other Names for this Disease

  • ACCPN
  • Agenesis of corpus callosum with neuronopathy
  • Agenesis of corpus callosum with peripheral neuropathy
  • Agenesis of corpus callosum with polyneuropathy
  • Charlevoix disease
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

My brother is suffering from Andermann syndrome. Since a couple of years ago he is also suffering from psychosis. Do you have any information about how long this is going to last? In Holland there is little information about this disease.

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is Andermann syndrome?

Andermann syndrome (AS) is a disorder that damages the nerves used for muscle movement and sensation (motor and sensory neuropathy). Agenesis or malformation of the corpus callosum also occurs in most people with this disorder. Signs and symptoms of the disorder include areflexia; hypotonia; amyotrophy; severe progressive weakness and loss of sensation in the limbs; and tremors. Affected individuals typically begin walking late and lose this ability by their teenage years. Other features may include intellectual disability, seizures, contractures, scoliosis, various psychiatric symptoms, various atypical physical features, and cranial nerve problems that cause facial muscle weakness, ptosis, and difficulty following movements with the eyes (gaze palsy). It is caused by mutations in the SLC12A6 gene and is inherited in an autosomal recessive manner. AS is associated with a shortened life expectancy, but affected individuals typically live into adulthood.[1]
Last updated: 3/3/2011

What is known about the psychiatric symptoms associated with Andermann syndrome?

Individuals with Andermann syndrome may develop psychiatric symptoms such as depression, anxiety, agitation, paranoia, and hallucinations, which usually appear in adolescence.[1] One study reported that after age 15 years, 39% of the individuals with Andermann syndrome in their study developed "psychotic episodes" characterized by paranoid delusions, depressive states, visual hallucinations, auditory hallucinations, or "autistic-like" features.[2] In another study, the authors agreed that psychosis appears at the end of adolescence. They also stated that a significant difference was observed between males and females for age of onset of psychosis, with females developing psychosis at a younger age. Upon reviewing the available literature, although there appears to be evidence of "psychotic episodes", no information was found regarding whether the psychiatric symptoms are generally transient or if the symptoms typically continue during the life span of the affected individuals.[3]
Last updated: 3/3/2011

References
  • Andermann syndrome. Genetics Home Reference. June 2008; http://ghr.nlm.nih.gov/condition/andermann-syndrome. Accessed 3/3/2011.
  • Nicolas Dupré, Heidi C Howard, Guy A Rouleau. Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum. GeneReviews. June 18, 2009; http://www.ncbi.nlm.nih.gov/books/NBK1372/. Accessed 3/3/2011.
  • Marie-Josee Filteau et al. Corpus Callosum Agenesis and Psychosis in Andermann Syndrome. Archives of Neurology. December 1991; 48:1275-1280.
Other Names for this Disease
  • ACCPN
  • Agenesis of corpus callosum with neuronopathy
  • Agenesis of corpus callosum with peripheral neuropathy
  • Agenesis of corpus callosum with polyneuropathy
  • Charlevoix disease
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.