• 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]