Cerebellar agenesis
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[edit | edit source]
- ↑ 1.0 1.1 1.2 , Cerebellar agenesis: a case report with clinical and MR imaging findings and a review of the literature, Eur. J. Neurol., Vol. 5(Issue: 5), pp. 503–506, DOI: 10.1046/j.1468-1331.1998.550503.x, PMID: 10210881,
- ↑ , Neurodevelopmental outcomes in children with cerebellar malformations: a systematic review, Dev Med Child Neurol, Vol. 51(Issue: 4), pp. 256–67, DOI: 10.1111/j.1469-8749.2008.03224.x, PMID: 19191827,
- ↑ , Cerebellar agenesis, Neurology, Vol. 64(Issue: 6), pp. E21, DOI: 10.1212/wnl.64.6.e21, PMID: 15781801,
- ↑ , The neuropsychiatry of the cerebellum - insights from the clinic, Cerebellum, 2007, Vol. 6(Issue: 3), pp. 254–67, DOI: 10.1080/14734220701490995, PMID: 17786822,
- ↑ , Cerebellar development and disease, Curr. Opin. Neurobiol., Vol. 18(Issue: 1), pp. 12–9, DOI: 10.1016/j.conb.2008.05.010, PMID: 18513948, PMC: 2474776,
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