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Cerebellar agenesis

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Cerebellar agenesis is a rare condition in which a brain develops without the cerebellum. The cerebellum controls smooth movement, and when it does not develop, the rest of the brain must compensate, which it cannot do completely.[1] The condition is not fatal on its own, but people born without a cerebellum experience severe developmental delays, language deficits, and neurological abnormalities.[2] As children with cerebellar agenesis get older, their movements usually improve.[3] It can co-exist with other severe malformations of the central nervous system, like anencephaly, holoprosencephaly, and microencephaly.[1]

The condition was first reported in 1831. Ten cases had been reported as of 1998.[1] Agenesis of one half or another part of the cerebellum is more common than complete agenesis.[4]

Cerebellar agenesis can be caused by mutations in the PTF1A gene.[5]

References

  1. ^ a b c Velioglu SK, Kuzeyli K, Ozmenoglu M (September 1998). "Cerebellar agenesis: a case report with clinical and MR imaging findings and a review of the literature". Eur. J. Neurol. 5 (5): 503–506. doi:10.1046/j.1468-1331.1998.550503.x. PMID 10210881. S2CID 7679629.
  2. ^ Bolduc ME, Limperopoulos C (April 2009). "Neurodevelopmental outcomes in children with cerebellar malformations: a systematic review". Dev Med Child Neurol. 51 (4): 256–67. doi:10.1111/j.1469-8749.2008.03224.x. PMID 19191827. S2CID 41825836.
  3. ^ Titomanlio L, Romano A, Del Giudice E (March 2005). "Cerebellar agenesis". Neurology. 64 (6): E21. doi:10.1212/wnl.64.6.e21. PMID 15781801.
  4. ^ Schmahmann JD, Weilburg JB, Sherman JC (2007). "The neuropsychiatry of the cerebellum - insights from the clinic". Cerebellum. 6 (3): 254–67. doi:10.1080/14734220701490995. PMID 17786822. S2CID 14176315.
  5. ^ Millen KJ, Gleeson JG (February 2008). "Cerebellar development and disease". Curr. Opin. Neurobiol. 18 (1): 12–9. doi:10.1016/j.conb.2008.05.010. PMC 2474776. PMID 18513948.


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