PT  - JOURNAL ARTICLE
AU  - Panagiotakaki, Eleni
AU  - Doummar, Diane
AU  - Nogue, Erika
AU  - Nagot, Nicolas
AU  - Lesca, Gaetan
AU  - Riant, Florence
AU  - Nicole, Sophie
AU  - Delaygue, Charlene
AU  - Barthez, Marie Anne
AU  - Nassogne, Marie Cécile
AU  - Dusser, Anne
AU  - Vallée, Louis
AU  - Billette, Thierry
AU  - Bourgeois, Marie
AU  - Ioos, Christine
AU  - Gitiaux, Cyril
AU  - Laroche, Cécile
AU  - Milh, Mathieu
AU  - Portes, Vincent Des
AU  - Arzimanoglou, Alexis
AU  - Roubertie, Agathe
AU  - ,
TI  - Movement disorders in patients with alternating hemiplegia
AID  - 10.1212/WNL.0000000000009175
DP  - 2020 Mar 31
TA  - Neurology
PG  - e1378--e1385
VI  - 94
IP  - 13
4099  - http://n.neurology.org/content/94/13/e1378.short
4100  - http://n.neurology.org/content/94/13/e1378.full
SO  - Neurology2020 Mar 31; 94
AB  - Objective To assess nonparoxysmal movement disorders in ATP1A3 mutation-positive patients with alternating hemiplegia of childhood (AHC).Methods Twenty-eight patients underwent neurologic 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 with 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 neurologic 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 neurologic deterioration and further regression of motor function, typically after a stressful event, was reported in 7 patients.Conclusions Despite the relatively limited number of patients and the cross-sectional nature of the study, this detailed categorization of movement disorders in patients with AHC offers valuable insight into their precise characterization. Further longitudinal studies on this topic are needed.AHC=alternating hemiplegia of childhood; DI=disability index; IQR=interquartile range; NPMD=nonparoxysmal movement disorder