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.<ref name=Velioglu/> The condition is not fatal on its own, but people born without a cerebellum experience severe developmental delays, language deficits, and neurological abnormalities.<ref>,

 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,</ref> As children with cerebellar agenesis get older, their movements usually improve.<ref>, 
 Cerebellar agenesis, 
 Neurology, 
 
 Vol. 64(Issue: 6),
 pp. E21,
 DOI: 10.1212/wnl.64.6.e21,
 PMID: 15781801,</ref> It can co-exist with other severe malformations of the central nervous system, like anencephaly, holoprosencephaly, and microencephaly.<ref name=Velioglu>, 
 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,
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The condition was first reported in 1831. Ten cases had been reported as of 1998.<ref name=Velioglu/> Agenesis of one half or another part of the cerebellum is more common than complete agenesis.<ref>,

 The neuropsychiatry of the cerebellum - insights from the clinic, 
 Cerebellum, 
 2007,
 Vol. 6(Issue: 3),
 pp. 254–67,
 DOI: 10.1080/14734220701490995,
 PMID: 17786822,</ref>

Cerebellar agenesis can be caused by mutations in the PTF1A gene.<ref name=Millen>,

 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,</ref>

References

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