Title :

Paroxysmal Tonic Upgaze in a Patient With Congenital Ataxia due to a De Novo Missense Variant of CACNA1G.

Author(s) :

Riquet, Audrey [Auteur]
Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 [RADEME]
Cleuziou, Pierre [Auteur]
Centre Hospitalier Régional Universitaire [CHU Lille] [CHRU Lille]
Floret, Valentine [Auteur]
Centre Hospitalier Régional Universitaire [CHU Lille] [CHRU Lille]
Quesque, François [Auteur]
Centre Hospitalier Régional Universitaire [CHU Lille] [CHRU Lille]
Defoort, Sabine [Auteur]
Centre Hospitalier Régional Universitaire [CHU Lille] [CHRU Lille]
Smol, Thomas [Auteur]
Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364

Journal title :

Pediatric Neurology

Abbreviated title :

Pediatr Neurol

Volume number :

139

Pages :

22-23

Publication date :

2022-12-21

ISSN :

1873-5150

English keyword(s) :

Paroxysmal tonic upgaze
Congenital ataxia
Periodic neurological manifestations
CACNA1G

HAL domain(s) :

Sciences du Vivant [q-bio]

English abstract : [en]

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 ...
Show more >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.Show less >

Language :

Anglais

Audience :

Internationale

Popular science :

Non

Administrative institution(s) :

Université de Lille
CHU Lille

Collections :

• Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364

Submission date :

2024-05-15T22:02:59Z
2024-06-19T09:29:40Z