Paroxysmal tonic upgaze (PTU)
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Paroxysmal tonic upgaze (PTU). Onset is usually under the age of one year. Fully referenced neurology checklist.
Epidemiological features
- Onset is usually under the age of one year
Clinical features
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Exacerbating factors
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Possible associated features
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Genetic associations
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Differential diagnosis
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Treatment
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References
- 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.
- Apak RA, Topçu M. A case of paroxysmal tonic upgaze of childhood with ataxia. Eur J Paediatr Neurol 1999; 3:129-131.
- Kartal A. Paroxysmal tonic upgaze in children: three case reports and a review of the literature. Pediatr Emerg Care 2019; 35:e67-e69.
- 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.
- 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.
