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Rare neurological diseases

Last updated: May 25, 2021

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Rare neurological diseases may be inherited, postinfectious, iatrogenic, or of unknown etiology. They can affect the brain, spinal cord, or peripheral nerves. Symptoms range from mild tremors to significant motor and cognitive impairment. Therapy is often supportive.

Diseases caused by prion infection. Prion diseases affect both animals and humans. Creutzfeldt-Jakob disease (CJD) and variant CJD are discussed in a separate card.

Kuru [1][2]

  • Etiology: rapidly lethal prion infection; acquired through ritualistic cannibalism → neuronal loss, gliosis, and spongiform degeneration of the brain gray matter
  • Clinical features
  • Treatment: supportive

Gerstmann-Sträussler-Scheinker syndrome [2]

The name adrenoleukodystrophy means dystrophy (tissue wasting) of the adrenals and the white matter (leuko) of the nervous system.

References:[3]

References:[4]

References:[5]

References:[6]

References:[7][8]

  1. Alpers MP. The epidemiology of kuru: monitoring the epidemic from its peak to its end. Philos Trans R Soc Lond B Biol Sci. 2008; 363 (1510): p.3707-3713. doi: 10.1098/rstb.2008.0071 . | Open in Read by QxMD
  2. Genetic Prion Diseases.
  3. Le T, Bhushan V,‎ Sochat M, Chavda Y, Zureick A. First Aid for the USMLE Step 1 2018. McGraw-Hill Medical ; 2017
  4. Shindler KS. Tolosa-Hunt syndrome. In: Post TW, ed. UpToDate. Waltham, MA: UpToDate. https://www.uptodate.com/contents/tolosa-hunt-syndrome.Last updated: February 18, 2016. Accessed: April 3, 2017.
  5. Snyder PJ. Causes of hypopituitarism. In: Post TW, ed. UpToDate. Waltham, MA: UpToDate. https://www.uptodate.com/contents/causes-of-hypopituitarism?source=see_link.Last updated: October 21, 2015. Accessed: February 9, 2017.
  6. Goncalves DU, Proietti FA, Ribas JGR, et al. Epidemiology, Treatment, and Prevention of Human T-Cell Leukemia Virus Type 1-Associated Diseases. Clin Microbiol Rev. 2010; 23 (3): p.577-589. doi: 10.1128/cmr.00063-09 . | Open in Read by QxMD
  7. Chou CL, Lin YJ, Sheu YL, Lin CJ, Hseuh IH. Persistent Klüver-Bucy syndrome after bilateral temporal lobe infarction.. Acta Neurol Taiwan. 2008; 17 (3): p.199-202.
  8. Gościński I, Kwiatkowski S, Polak J, Orłowiejska M. The Kluver-Bucy syndrome.. Acta Neurochir (Wien). 1997; 139 (4): p.303-6. doi: 10.1007/bf01808825 . | Open in Read by QxMD
  9. Le T, Bhushan V, Sochat M, Chavda Y. First Aid for the USMLE Step 1 2017. McGraw-Hill Education ; 2017
  10. Ikeda AK. Metachromatic Leukodystrophy. Metachromatic Leukodystrophy. New York, NY: WebMD. http://emedicine.medscape.com/article/951840-overview. Updated: August 21, 2014. Accessed: April 3, 2017.
  11. Wanders RJ, Eichler FS. Adrenoleukodystrophy. In: Post TW, ed. UpToDate. Waltham, MA: UpToDate. https://www.uptodate.com/contents/adrenoleukodystrophy.Last updated: September 7, 2016. Accessed: April 3, 2017.
  12. Lenz AM, Root AW. Empty sella syndrome. Pediatr Endocrinol Rev. 2012; 9 (4): p.710-715.
  13. Hexosaminidase A Deficiency.
  14. Gaucher Disease.
  15. Fabry Disease.
  16. Acid Sphingomyelinase Deficiency.
  17. Niemann-Pick Disease Type C.
  18. Arylsulfatase A Deficiency.
  19. Kaplan Medical Staff. USMLE Step 1 Lecture Notes 2017: 7-Book Set. Kaplan Publishing ; 2017