Medical Conditions Related To Purkinje Cells
In humans, Purkinje cells are affected in a variety of diseases ranging from toxic exposure (alcohol, lithium), to autoimmune diseases and to genetic mutations (spinocerebellar ataxias, Unverricht-Lundborg disease, autism) and neurodegenerative diseases that are not thought to have a known genetic basis (cerebellar type of multiple system atrophy, sporadic ataxias).
In some domestic animals, a condition where the Purkinje cells begin to atrophy shortly after birth, called Cerebellar abiotrophy, can lead to symptoms including ataxia, intention tremors, hyperreactivity, lack of menace reflex, stiff or high-stepping gait, apparent lack of awareness of wherein the feet are (sometimes standing or walking with a foot knuckled over), and a general inability to determine space and distance. A similar condition known as cerebellar hypoplasia occurs when Purkinje cells either fail to develop in utero or die off in utero prior to birth. The genetic conditions Ataxia Telangiectasia and Niemann Pick disease Type C, as well as cerebellar essential tremor, involve the progressive loss of Purkinje cells. Spinal pathology as well as loss of dendritic branches of the Purkinje cells have been also described in Alzheimer's disease. Purkinje cells can also be damaged by the Rabies virus as it migrates from the site of infection in the periphery to the central nervous system
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