LACOMBE, Didier; VAN-GILS, Julien; LEBRUN, Marine; TRIMOUILLE, Aurélien; MICHAUD, Vincent; CABET, Sara; CHATEIL, Jean-François; PEDESPAN, Jean-Michel; BAR, Claire; LESCA, Gaetan

doi:10.1016/j.braindev.2022.05.001

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LACOMBE, Didier

Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]

VAN-GILS, Julien

Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]

LEBRUN, Marine

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Brain and Development. 2022-09-01, vol. 44, n° 8, p. 567-570

Resumen en inglés

Pathogenic variants in ATP1A3 cause various phenotypes of neurological disorders, including alternating hemiplegia of childhood 2, CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) and rapid-onset dystonia-parkinsonism (RDP). Early developmental and epileptic encephalopathy has also been reported. Polymicrogyria has recently been added to the phenotypic spectrum of ATP1A3-related disorders. We report here a male patient with early developmental delay who at 12 months presented dystonia of the right arm which evolved into hemidystonia at the age of 2. A cerebral MRI showed bilateral perisylvian polymicrogyria with intact basal ganglia. Whole-exome and whole-genome sequencing analyses identified a de novo new ATP1A3 missense variant (p.Arg914Lys) predicted pathogenic. Hemidystonia was thought not to be due to polymicrogyria, but rather a consequence of this variant. This case expands the phenotypic spectrum of ATP1A3-related disorders with a new variant associated with hemidystonia and polymicrogyria and thereby, suggests a clinical continuum between the different phenotypes of this condition.< Leer menos

Palabras clave en inglés

Dystonia

Dystonic Disorders

Humans

Male

Mutation

Phenotype

Polymicrogyria

Sodium-Potassium-Exchanging ATPase

URI

https://oskar-bordeaux.fr/handle/20.500.12278/170329

DOI

http://dx.doi.org/10.1016/j.braindev.2022.05.001

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Hemidystonia with polymicrogyria is part of ATP1A3-related disorders.

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Hemidystonia with polymicrogyria is part of ATP1A3-related disorders.

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Resumen en inglés

Palabras clave en inglés

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DOI

Centros de investigación