Movement disorders in patients with alternating hemiplegia: 'Soft' and 'stiff' at the same time

Autor: Panagiotakaki, Eleni, Doummar, Diane, Nogué, Erika, Nagot, Nicolas, Lesca, Gaetan, Riant, Florence, Nicole, Sophie, Delaygue, Charlene, Barthez, Marie, Nassogne, Marie, Dusser, Anne, Vallée, Louis, Billette, Thierry, Bourgeois, Marie, Ioos, Christine, Gitiaux, Cyril, Laroche, Cécile, Milh, Mathieu, Des Portes, Vincent, Arzimanoglou, Alexis, Roubertie, Agathe
Přispěvatelé: NICOLE, Sophie, Department of Paediatric Clinical Epileptology, sleep disorders and Functional Neurology, University Hospitals of Lyon, Member of the ERN EpiCARE, Lyon, CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Pathogénèse et contrôle des infections chroniques (PCCI), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)-Centre Hospitalier Universitaire de Montpellier (CHU Montpellier ), Service de génétique moléculaire neurovasculaire, groupe hospitalier Saint-Louis Lariboisière-Fernand-Widal, 75010 Paris, France., Institut de Génomique Fonctionnelle (IGF), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Service de Neuropédiatrie et Handicaps, Hôpital Gatien de Clocheville, CHU Tours, Pediatric Neurology Unit, Cliniques Universitaires Saint-Luc, UCLouvain, Service de Neuropédiatrie, CHU de Bicêtre, Service de Neuropédiatrie, CHU Lille, Hôpital Trousseau, Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Service de Neurochirurgie pédiatrique, Hôpital Necker-Enfants Malades, APHP, Service de Neurologie Pédiatrique, Hôpital Raymond Poincarré, AP-HP, CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de Pédiatrie médicale [CHU Limoges], CHU Limoges, Service de Neurologie Pédiatrique, CHU Timone Enfants, Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de référence « Déficiences Intellectuelles de causes rares », Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Bron, Université de Lyon, Member of the ERN EpiCARE, Institut des Neurosciences de Montpellier (INM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)
Jazyk: angličtina
Rok vydání: 2020
Předmět:
Zdroj: Neurology
Neurology, 2020, 94 (13), pp.e1378-e1385. ⟨10.1212/WNL.0000000000009175⟩
ISSN: 0028-3878
1526-632X
DOI: 10.1212/WNL.0000000000009175⟩
Popis: International audience; AIM: To assess non-paroxysmal movement disorders in ATP1A3 mutation-positive patients with alternating hemiplegia of childhood (AHC).METHODS: Twenty-eight patients underwent neurological examination with particular focus on movement phenomenology by a specialist in movement disorders. Video recordings were reviewed by another movement disorders specialist and data were correlated to patients’ characteristics.RESULTS: Ten patients were diagnosed with chorea, 16 with dystonia (nonparoxysmal), 4 with myoclonus, and 2 with ataxia. Nine patients had more than one movement disorder and 8 patients had none. The degree of movement disorder was moderate to severe in 12/28 patients. At inclusion, dystonic patients (n=16) were older (p=0.007) than nondystonic patients. Moreover, patients (n=18) with dystonia or chorea, or both, had earlier disease onset (p=0.042) and more severe neurological impairment (p=0.012), but this did not correlate with genotype. All patients presented with hypotonia, which was characterized as moderate or severe in 16/28. Patients with dystonia or chorea (n=18) had more pronounced hypotonia (p=0.011). Bradykinesia (n=16) was associated with an early age at assessment (p
Databáze: OpenAIRE
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