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Article Dans Une Revue Neurology Année : 2020

Movement disorders in patients with alternating hemiplegia

1 Department of Paediatric Clinical Epileptology, sleep disorders and Functional Neurology, University Hospitals of Lyon; Member of the ERN EpiCARE, Lyon
2 CHU Trousseau [APHP]
3 CHRU Montpellier - Centre Hospitalier Régional Universitaire [Montpellier]
4 Pathogénèse et contrôle des infections chroniques (PCCI)
5 Service de génétique moléculaire neurovasculaire, groupe hospitalier Saint-Louis Lariboisière-Fernand-Widal, 75010 Paris, France.
6 IGF - Institut de Génomique Fonctionnelle
7 Service de Neuropédiatrie et Handicaps, Hôpital Gatien de Clocheville, CHU Tours
8 Pediatric Neurology Unit, Cliniques Universitaires Saint-Luc, UCLouvain
9 Service de Neuropédiatrie, CHU de Bicêtre
10 Service de neurologie pédiatrique [CHU Lille]
11 Hôpital Trousseau
12 Service de Neurochirurgie pédiatrique, Hôpital Necker-Enfants Malades, APHP
13 Service de Neurologie Pédiatrique, Hôpital Raymond Poincarré, AP-HP
14 Hôpital Necker - Enfants Malades [AP-HP]
15 Service de Pédiatrie médicale [CHU Limoges]
16 Service de pédiatrie spécialisée et médecine infantile (neurologie, pneumologie, maladies héréditaires du métabolisme) [Hôpital de la Timone - APHM]
17 MMG - Marseille medical genetics - Centre de génétique médicale de Marseille
18 Centre de référence « Déficiences Intellectuelles de causes rares », Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Bron; Université de Lyon
19 Department of Paediatric Clinical Epileptology, sleep disorders and Functional Neurology, University Hospitals of Lyon; Member of the ERN EpiCARE
20 INM - Institut des Neurosciences de Montpellier
Diane Doummar
  • Fonction : Auteur
  • PersonId : 953196
Gaetan Lesca
Sophie Nicole
Anne Dusser
  • Fonction : Auteur
  • PersonId : 906985
Cyril Gitiaux

Résumé

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<0.01). Significant dysarthria was diagnosed in 11/25 cases. A history of acute neurological deterioration and further regression of motor function, typically after a stressful event, was reported in 7 patients. INTERPRETATION: Despite the relatively limited number of patients and the cross-sectional nature of the study, this detailed categorisation of movement disorders in patients with AHC offers valuable insight into their precise characterization. Further longitudinal studies on this topic are needed.
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Dates et versions

hal-02533319 , version 1 (06-04-2020)

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Eleni Panagiotakaki, Diane Doummar, Erika Nogué, Nicolas Nagot, Gaetan Lesca, et al.. Movement disorders in patients with alternating hemiplegia: "Soft" and "stiff" at the same time. Neurology, 2020, 94 (13), pp.e1378-e1385. ⟨10.1212/WNL.0000000000009175⟩. ⟨hal-02533319⟩
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