Infantile‐onset parkinsonism, dyskinesia, and developmental delay: do not forget polyglutamine defects! - Université de Montpellier
Article Dans Une Revue Annals of Clinical and Translational Neurology Année : 2023

Infantile‐onset parkinsonism, dyskinesia, and developmental delay: do not forget polyglutamine defects!

Heidy Baide-Mairena
Arthur Coget
  • Fonction : Auteur
Nicolas Leboucq
  • Fonction : Auteur
Vincent Procaccio
  • Fonction : Auteur
Maud Blanluet
  • Fonction : Auteur
Pierre Meyer
  • Fonction : Auteur
Marie‐claire Malinge
  • Fonction : Auteur
Mathis Moreno
  • Fonction : Auteur
David Geneviève
  • Fonction : Auteur
Agathe Roubertie

Résumé

Abstract We present the phenotype of an infant with the largest ATN1 CAG expansion reported to date (98 repeats). He presented at 4 months with developmental delay, poor eye contact, acquired microcephaly, failure to thrive. He progressively developed dystonia‐parkinsonism with paroxysmal oromandibular and limbs dyskinesia and fatal outcome at 17 months. Cerebral MRI disclosed globus pallidus T2‐WI hyperintensities and brain atrophy. Molecular analysis was performed post‐mortem following the diagnosis of dentatorubral–pallidoluysian atrophy (DRPLA) in his symptomatic father. Polyglutamine expansion defects should be considered when neurodegenerative genetic disease is suspected even in infancy and parkinsonism can be a presentation of infantile‐onset DRPLA.

Dates et versions

hal-04672976 , version 1 (19-08-2024)

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Citer

Heidy Baide-Mairena, Arthur Coget, Nicolas Leboucq, Vincent Procaccio, Maud Blanluet, et al.. Infantile‐onset parkinsonism, dyskinesia, and developmental delay: do not forget polyglutamine defects!. Annals of Clinical and Translational Neurology, 2023, 10 (10), pp.1937-1943. ⟨10.1002/acn3.51858⟩. ⟨hal-04672976⟩
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