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. 2015 May;19(3):292-7.
doi: 10.1016/j.ejpn.2014.12.018. Epub 2015 Jan 8.

Paroxysmal tonic upward gaze as a presentation of de-novo mutations in CACNA1A

Lubov Blumkin  1 , Esther Leshinsky-Silver  2 , Marina Michelson  3 , Ayelet Zerem  4 , Sara Kivity  4 , Dorit Lev  3 , Tally Lerman-Sagie  4
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Paroxysmal tonic upward gaze as a presentation of de-novo mutations in CACNA1A

Lubov Blumkin et al. Eur J Paediatr Neurol. 2015 May.

Abstract

Objective: Paroxysmal tonic upward gaze was initially described as a benign phenomenon with negative investigations and eventual complete resolution of symptoms. Later publications demonstrated that a similar clinical picture may arise from structural brain lesions, channelopathies, neurotransmitter disorders, and epileptic seizures. CACNA1A related disorders manifest as a wide spectrum of paroxysmal neurological disorders: episodic ataxia 2, hemiplegic migraine, benign paroxysmal torticollis of infancy, and paroxysmal vertigo. Paroxysmal tonic upward gaze as a phenomenon in patients with mutations in the CACNA1A gene has only been reported once.

Methods: We describe three patients with multiple episodes of paroxysmal tonic upward gaze that appeared during the first months of life. In addition the patients demonstrated motor and language delay and cerebellar ataxia. A sequence analysis of the CACNA1A gene in one patient and whole exome sequencing in the other patients were performed.

Results: Sequence analysis of the CACNA1A gene in one patient and whole exome sequencing in the two other patients revealed 3 different de-novo mutations in the CACNA1A gene.

Conclusion: CACNA1A mutations should be evaluated in infants and young children with paroxysmal tonic upgaze especially if associated with developmental delay, cerebellar signs, and other types of paroxysmal event.

Keywords: Ataxia; CACNA1A; Paroxysmal tonic upward gaze.

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