Rewrite edit

 
Altered walking gait of a woman with cerebellar disease
 
The lower trace shows an attempt by a patient with cerebellar disease to reproduce the upper trace.

The prevailing neurological sign of cerebellar damage is cerebellar ataxia, or deficits in motor coordination resulting in an abnormal gait. The cause of cerebellar dysfunction may be identified through clinical diagnosis, medical imaging, or genetic testing. Congenital malformation, hereditary disorders, and acquired conditions can affect cerebellar structure and, consequently, cerebellar function. Unless the causative condition itself is reversible, treatment is usually only supportive.[1]

Congenital malformation or underdevelopment (hypoplasia) of the cerebellar vermis is a characteristic of both Dandy–Walker syndrome and Joubert syndrome.[2][3] In very rare cases, the entire cerebellum may be absent.[4] The inherited neurological disorders Machado–Joseph disease, ataxia telangiectasia, and Friedreich's ataxia cause progressive neurodegeneration linked to cerebellar loss.[1][5] Congenital brain malformations outside the cerebellum can, in turn, cause herniation of cerebellar tissue, as seen in some forms of Chiari malformation.[6]

Other conditions that are closely linked to cerebellar degeneration include the idiopathic progressive neurological disorders multiple system atrophy and Ramsay Hunt syndrome type I,[7][8] and the autoimmune disorder paraneoplastic cerebellar degeneration, in which tumors elsewhere in the body elicit an autoimmune response that causes neuronal loss in the cerebellum.[9] Cerebellar atrophy can result from an acute deficiency of vitamin B1 as seen in beriberi and in Wernicke–Korsakoff syndrome,[10] or from vitamin E deficiency.[1]

Cerebellar atrophy has been observed in many other neurological disorders including Huntington's disease, multiple sclerosis,[11] essential tremor, progressive myoclonic epilepsy, and Niemann–Pick disease, and also occurs as part of the typical aging process.

Cerebellar function can be disrupted by any insult to the brain. Loss can result from trauma such as traumatic brain injury, stroke, edema, or any neoplasm in or impinging on the cerebellum.[5] Infection can result in cerebellar damage in such conditions as the prion diseases[11] and Miller Fisher syndrome variant of Guillain–Barré syndrome. Some forms of migraine may produce temporary cerebellar dysfunction.[12]

Cerebellar atrophy can also occur as a result of exposure to toxins including heavy metals or pharmaceutical or recreational drugs.[1] Gluten ataxia can affect individuals who are sensitive to gluten.

References edit

  1. ^ a b c d Albert, Richard K.; Porter, Robert S., eds. (2006). The Merck Manual of Diagnosis and Therapy (18th ed.). Whitehouse Station, New Jersey: Merck Research Libraries. p. 1886–1887.
  2. ^ "NINDS Joubert Syndrome Information Page". National Institutes of Health. 23 December 2013. Retrieved 9 January 2015.
  3. ^ "NINDS Dandy-Walker Information Page". National Institutes of Health. 14 February 2014. Retrieved 9 January 2015.
  4. ^ "NINDS Cerebellar Hypoplasia Information Page". National Institutes of Health. 29 September 2011. Retrieved 9 January 2015.
  5. ^ a b "NINDS Ataxias and Cerebellar or Spinocerebellar Degeneration Information Page". National Institutes of Health. 16 April 2014. Retrieved 2 February 2015.
  6. ^ "Chiari Malformation Fact Sheet". National Institutes of Health. 10 December 2014. Retrieved 9 January 2015.
  7. ^ "NINDS Dyssynergia Cerebellaris Myoclonica Information Page". National Institutes of Health. 14 February 2011. Retrieved 1 February 2015.
  8. ^ "NINDS Olivopontocerebellar Atrophy Information Page". National Institutes of Health. 16 April 2014. Retrieved 9 January 2015.
  9. ^ "NINDS Paraneoplastic Syndromes Information Page". National Institutes of Health. 12 March 2009. Retrieved 9 January 2015.
  10. ^ "NINDS Wernicke-Korsakoff Syndrome Information Page". National Institutes of Health. 14 February 2007. Retrieved 9 January 2015.
  11. ^ a b "NINDS Cerebellar Degeneration Information Page". National Institutes of Health. 28 February 2014. Retrieved 2 February 2015.
  12. ^ Vincent M, Hadjikhani N (2007). "The cerebellum and migraine". Headache. 47 (6): 820–33. doi:10.1111/j.1526-4610.2006.00715.x. PMC 3761082. PMID 17578530.