Abstract
Cerebellar ataxia is a clinically heterogeneous group of disorders, which includes several well-characterized genetic diseases as well as sporadic ataxias. The pathophysiology of ataxia is being un...
Highlights
Ataxia refers to movements that are poorly coordinated, originally derived from Greek, meaning lack of order
Loss of proprioceptive sensory feedback during movement and stance due to the loss of function of muscle spindles leads to the development of afferent ataxia, and symptoms are located to the peripheral nerves localized to the, dorsal root ganglia (DRG), and spinal cord.[3]
In SCA31, disease-causing microsatellites comprising of pentanucleotide repeat complexes, including (TGGAA)n, (TAGAA)n, (TAAAATA GAA)n, and (TAAAA)n, within an intron shared by two different genes, such as brain expressed associated with NEDD41 (BEAN1) and thymidine kinase 2 (TK2), are involved.[63]
Summary
Ataxia refers to movements that are poorly coordinated, originally derived from Greek, meaning lack of order. Dysfunction of the cerebellum and its input or output tracts can lead to the development of ataxia.[1,2] In some cases, there is a combined involvement of cerebellar and extracerebellar structures, the brainstem. Loss of proprioceptive sensory feedback during movement and stance due to the loss of function of muscle spindles leads to the development of afferent ataxia, and symptoms are located to the peripheral nerves localized to the, dorsal root ganglia (DRG), and spinal cord.[3] Current, global epidemiological studies on ataxia have estimated an overall ataxia occurrence rate of 26/100,000 in children, and for dominant hereditary cerebellar ataxia an occurrence rate of 2.7/ 100,000, and the frequency of recessive hereditary cerebellar ataxia as 3.3/100,000.4–7 The general rarity of ataxias as a whole and the involvement of multitude of genetic factors coupled with variable disease progression rates and diagnosis makes the field of ataxias highly challenging and distinct from other neurodegenerative diseases
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