• Clinical science

Rare neurological diseases

Summary

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.

Prion diseases

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

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

Gerstmann-Sträussler-Scheinker syndrome

References:[1][2]

Adrenoleukodystrophy

References:[3]

Lance-Adams syndrome

  • Etiology: hypoxic brain damage
  • Clinical features: myoclonus of different forms (possibly in combination with asterixis and cerebellar ataxia)
  • Treatment: antimyoclonic agents

Tolosa-Hunt syndrome

References:[4]

Empty sella syndrome

References:[5]

Vertical gaze palsy

References:[6]

HTLV-1 associated myelopathy

References:[7]

Kluver Bucy syndrome

References:[8][9]

  • 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): pp. 3707–3713. doi: 10.1098/rstb.2008.0071.
  • 2. Mastrianni JA, Adam MP, Ardinger HH, et al. Genetic Prion Diseases. url: https://www.ncbi.nlm.nih.gov/pubmed/20301407 Accessed January 24, 2018.
  • 3. Le T, Bhushan V,‎ Sochat M, Chavda Y, Zureick A. First Aid for the USMLE Step 1 2018. New York, NY: 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. Lenz AM, Root AW. Empty sella syndrome. Pediatr Endocrinol Rev. 2012; 9(4): pp. 710–715. pmid: 23304808.
  • 6. Feroze KB, Bhimji SS. Parinaud Syndrome. url: https://www.ncbi.nlm.nih.gov/pubmed/28722922 Accessed January 24, 2018.
  • 7. 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): pp. 577–589. doi: 10.1128/cmr.00063-09.
  • 8. 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): pp. 199–202. pmid: 18975528.
  • 9. Gościński I, Kwiatkowski S, Polak J, Orłowiejska M. The Kluver-Bucy syndrome. Acta Neurochir (Wien). 1997; 139(4): pp. 303–6. doi: 10.1007/bf01808825.
  • Patterson M, Adam MP, Ardinger HH, et al. Niemann-Pick Disease Type C. url: https://www.ncbi.nlm.nih.gov/pubmed/20301473 Accessed January 24, 2018.
  • Kaplan Medical Staff. USMLE Step 1 Lecture Notes 2017: 7-Book Set. Kaplan Publishing; 2017.
  • Gomez-Ospina N, Adam MP, Ardinger HH, et al. Arylsulfatase A Deficiency. url: https://www.ncbi.nlm.nih.gov/pubmed/20301309 Accessed January 24, 2018.
  • Le T, Bhushan V, Sochat M, Chavda Y. First Aid for the USMLE Step 1 2017. McGraw-Hill Education; 2017.
  • Wasserstein MP, Schuchman EH, Adam MP, et al. Acid Sphingomyelinase Deficiency. url: https://www.ncbi.nlm.nih.gov/pubmed/20301544 Accessed January 24, 2018.
  • Mehta A, Hughes DA, Adam MP, et al. Fabry Disease. url: https://www.ncbi.nlm.nih.gov/pubmed/20301469 Accessed January 24, 2018.
  • Pastores GM, Hughes DA, Adam MP, et al. Gaucher Disease. url: https://www.ncbi.nlm.nih.gov/pubmed/20301446 Accessed January 24, 2018.
  • Ikeda AK. Metachromatic Leukodystrophy. In: Metachromatic Leukodystrophy. New York, NY: WebMD. http://emedicine.medscape.com/article/951840-overview. Updated August 21, 2014. Accessed April 3, 2017.
  • 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.
  • Kaback MM, Desnick RJ, Adam MP, et al. Hexosaminidase A Deficiency. url: https://www.ncbi.nlm.nih.gov/pubmed/20301397 Accessed January 24, 2018.
last updated 03/13/2020
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