Infantile-onset parkinsonism, dyskinesia, and developmental delay: do not forget polyglutamine defects!
- Resource Type
- Report
- Authors
- Baide-Mairena H; Département de Neuropédiatrie, Hôpital Gui de Chauliac, Montpellier, France.; Universitat Autònoma de Barcelona, Barcelona, Spain.; Coget A; Service de Neuroradiologie, Hôpital Gui de Chauliac, Montpellier, France.; Leboucq N; Service de Neuroradiologie, Hôpital Gui de Chauliac, Montpellier, France.; Procaccio V; MitoLab, UMR CNRS 6015 - INSERM U1083, MitoVasc Institute, Angers University Hospital, Angers, France.; Blanluet M; MitoLab, UMR CNRS 6015 - INSERM U1083, MitoVasc Institute, Angers University Hospital, Angers, France.; Meyer P; Département de Neuropédiatrie, Hôpital Gui de Chauliac, Montpellier, France.; Phymedexp, Montpellier University, Inserm, CNRS, Montpellier, France.; Malinge MC; MitoLab, UMR CNRS 6015 - INSERM U1083, MitoVasc Institute, Angers University Hospital, Angers, France.; François-Heude MC; Département de Neuropédiatrie, Hôpital Gui de Chauliac, Montpellier, France.; Moreno M; Département de Neuropédiatrie, Hôpital Gui de Chauliac, Montpellier, France.; Geneviève D; Montpellier University, Inserm U1183, Montpellier, France.; Reference Center for Malformative Syndrome, Genetic Department, Montpellier Hospital, Montpellier, France.; Marelli C; Expert Centre for Neurogenetic Diseases and Adult Mitochondrial and Metabolic Diseases, Department of Neurology, Montpellier University Hospital, Montpellier, France.; MMDN, University of Montpellier, EPHE, INSERM, Montpellier, France.; Roubertie A; Département de Neuropédiatrie, Hôpital Gui de Chauliac, Montpellier, France.; Institut des Neurosciences de Montpellier, INSERM U 1298, Montpellier, France.
- Source
- Publisher: Wiley Periodicals, Inc on behalf of American Neurological Association Country of Publication: United States NLM ID: 101623278 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2328-9503 (Electronic) Linking ISSN: 23289503 NLM ISO Abbreviation: Ann Clin Transl Neurol Subsets: MEDLINE
- Subject
- Language
- English
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.
(© 2023 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association.)