Paroxysmal tonic upgaze (PTU)

Evidence-based neurology checklist on paroxysmal tonic upgaze (ptu): Epidemiological features Onset is usually under the age of one year Clinical features Exacerbating factors Possible associated features Genetic associations Differential diagnosis Treatment

Epidemiological features

  • Onset is usually under the age of one year

Clinical features

Exacerbating factors

Possible associated features

Genetic associations

Differential diagnosis

Treatment

References

  1. Rebelo Procaci V, da Hora RPC, Tonholo Silva TY, Barsottini OGP, Pedroso JL. Involuntary eye movements as a clue to diagnosis. Mov Disord Clin Pract 2025; 12:1662-1663.
  2. Apak RA, Topçu M. A case of paroxysmal tonic upgaze of childhood with ataxia. Eur J Paediatr Neurol 1999; 3:129-131.
  3. Kartal A. Paroxysmal tonic upgaze in children: three case reports and a review of the literature. Pediatr Emerg Care 2019; 35:e67-e69.
  4. Riquet A, Cleuziou P, Floret V, Quesque F, Defoort S, Smol T. Paroxysmal tonic upgaze in a patient with congenital ataxia due to a de novo missense variant of CACNA1G. Pediatr Neurol 2023; 139:22-23.
  5. Quade A, Thiel A, Kurth I, et al. Paroxysmal tonic upgaze: a heterogeneous clinical condition responsive to carbonic anhydrase inhibition. Eur J Paediatr Neurol 2020; 25:181-186.

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