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

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 l...

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Detalles Bibliográficos
Autores principales: Baide‐Mairena, Heidy, Coget, Arthur, Leboucq, Nicolas, Procaccio, Vincent, Blanluet, Maud, Meyer, Pierre, Malinge, Marie‐Claire, François‐Heude, Marie‐Céline, Moreno, Mathis, Geneviève, David, Marelli, Cecilia, Roubertie, Agathe
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Case Study
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10578886/
https://www.ncbi.nlm.nih.gov/pubmed/37491839
http://dx.doi.org/10.1002/acn3.51858

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10578886/
https://www.ncbi.nlm.nih.gov/pubmed/37491839
http://dx.doi.org/10.1002/acn3.51858

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