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Cerebellar degeneration
- ... P, Straumann D, Synofzik M. Boucher-Neuhauser syndrome: cerebellar degeneration, chorioretinal dystrophy and hypogonadotropic hypogonadism: two novel cases ...
- ... also have difficulty coordinating movements (ataxia) due to degeneration of nerve cells in the cerebellum.PNKP gene mutations that cause MCSZ lead to ...
- ... the brain leads to the development of epilepsy, cerebellar ataxia, and other signs and ... lobar degeneration. This condition is a progressive brain disorder that ...
- ... EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration. ... and cerebellar atrophy detects a novel mutation in EXOSC3. Neurogenetics. ...