Paroxysmal Tonic Upgaze in a Patient With Congenital Ataxia due to a De Novo Missense Variant of CACNA1G - 12/01/23
, Pierre Cleuziou, MD a, Valentine Floret, MD a, Francois Quesque, PhD a, Sabine Defoort, MD d, Thomas Smol, MD b, eAbstract |
Background |
Paroxysmal tonic upgaze (PTU), defined as an involuntary upward movement of the eyes, has been considered as a benign phenomenon but may also be associated with ataxia and developmental delay. To date, CACNA1G mutations have been reported in autosomal dominant spinocerebellar ataxia designated SCA42 and in early encephalopathies with cerebellar atrophy but never in periodic childhood manifestations of PTU type.
Methods and Results |
We report the case of a two-month-old infant with a de novo pathogenic variation of CACNA1G who presented with PTU associated with congenital ataxia and other periodic neurological manifestations.
Conclusions |
Although the link between CACNA1G mutations and periodic neurological manifestations remains unclear, we provide detailed video documentations of PTU, paroxysmal torticollis, and ataxia in a patient with a CACNA1G mutation. This case allows a better understanding of the underlying mechanisms of PTU and suggests potential new avenues for clinical treatments.
Le texte complet de cet article est disponible en PDF.Keywords : Paroxysmal tonic upgaze, Congenital ataxia, Periodic neurological manifestations, CACNA1G
Plan
| Conflict of Interest: The authors have no competing interests to declare. |
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| Ethics Approval: Informed consent was obtained from parents to proceed to a molecular diagnosis, and to publish other data and video on the patient. |
Vol 139
P. 22-23 - février 2023 Retour au numéro
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