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Rare neurological diseases

Last updated: May 9, 2023

Summarytoggle arrow icon

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.

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Adrenoleukodystrophytoggle arrow icon

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

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Vertical gaze palsytoggle arrow icon

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Kluver Bucy syndrometoggle arrow icon

References:[1][2]

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Empty sella syndrometoggle arrow icon

References:[3]

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Posthypoxic myoclonustoggle arrow icon

Acute posthypoxic myoclonus [4]

Chronic posthypoxic myoclonus (Lance-Adams syndrome)

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Myoclonic status epilepticustoggle arrow icon

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Tolosa-Hunt syndrometoggle arrow icon

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HTLV-1 associated myelopathytoggle arrow icon

References:[6]

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Prion diseasestoggle arrow icon

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 [7][8]

  • Definition: a rapidly lethal prion infection
  • Etiology: acquired through ritualistic cannibalism
  • Pathophysiology: neuronal loss, gliosis, and spongiform degeneration of cerebral gray matter
  • Clinical features
  • Treatment: supportive

Gerstmann-Sträussler-Scheinker syndrome [8]

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Neurodegeneration with brain iron accumulation 1toggle arrow icon

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Oculogyric crisistoggle arrow icon

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Cramp fasciculation syndrometoggle arrow icon

  • Definition: a general peripheral nerve hyperexcitability disorder of unknown etiology
  • Clinical features
  • Differential diagnosis
    • Benign fasciculation syndrome: a chronic condition characterized by profuse fasciculations without muscle weakness, atrophy, or other neurological abnormalities
    • Neuromyotonia: a rare syndrome associated with VGKC-antibody complexes characterized by continuous fasciculations, muscle stiffness, myokymias, and myotonic appearance of movements after muscle contraction.
  • Treatment: supportive
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Denny-Brown syndrometoggle arrow icon

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Epilepsia partialis continuatoggle arrow icon

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Giant axonal neuropathytoggle arrow icon

  • Definition: an autosomal recessive chronic degenerative neurological disease
  • Clinical features
  • Treatment: supportive
  • Prognosis: lethal before the third decade of life
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Central core diseasetoggle arrow icon

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Kleine-Levin syndrometoggle arrow icon

  • Definition: a rare neurologic disease characterized by binge eating, hypersomnia, and hypersexuality
  • Epidemiology: mainly affects adolescent males
  • Etiology: unknown (although viral infections have been implicated)
  • Clinical features
    • Recurrent hypersomnia (patients are only awake for 1–2 hours per day)
    • Hypersexuality when awake
    • Binge eating
  • Subtype: menstrual recurrent hypersomnia
    • Very rare variant
    • Characterized by recurrent episodes of excessive sleepiness just before or during menses
    • Associated with compulsive eating (65% of cases), depression (35% of cases), and sexual disinhibition (29% of cases)
    • Symptoms sometimes respond to estrogen-containing contraceptives
  • Treatment: supportive
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Elsberg syndrometoggle arrow icon

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Subacute myelo-optic neuropathy (SMON)toggle arrow icon

  • Definition: a severe neurodegenerative disorder caused by administration of clioquinol
  • Epidemiology: Most cases were confined to Japan in the 1960's.
  • Etiology: iatrogenic (induced by the drug clioquinol)
  • Clinical features
  • Treatment: reversible (withdraw clioquinol)
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Canavan diseasetoggle arrow icon

  • Definition: a rare genetic neurological disorder characterized by progressive degeneration of the white matter
  • Epidemiology: incidence is 1:100,000 births [10]
  • Etiology: mutations of the aspartoacylase (ASPA) gene, which encodes aspartoacylase, the enzyme responsible for the conversion of N-acetylaspartic acid (NAA) to aspartate and acetate
  • Pathophysiology: mutation of the ASPA gene↑ NAA levels in neurons and oligodendrocytes → neuronal dysfunction and myelin deficiency
  • Clinical features: neonatal/infantile and mild/juvenile are the two main disease types.
    • Neonatal/infantile form: normal at birth, symptoms develop by age 3–5 months. [10]
    • Mild/juvenile form: delayed development
  • Diagnostics: based on clinical and neuroimaging findings
  • Treatment: supportive (e.g., feeding gastrostomy tube in case of dysphagia, AED to manage seizures, botulinum toxin injections for spasticity)
  • Prognosis
    • Neonatal/infantile form: death in the first decade of life
    • Mild/juvenile form: same lifespan as the general population

CaNAAvan disease is caused by the accumulation of NAA.

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