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]
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]