Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
10227128 | Parkinsonism & Related Disorders | 2018 | 12 Pages |
Abstract
Nocturnal exacerbations of dyskinesia (“ballistic bouts”) seem to be a characteristic feature of the disease, affect the quality of life of patients and therefore require awareness and symptomatic treatment approaches. Apraxia of eye movements, with predominant difficulties in the vertical plane, was a common finding in our patients with ADCY5 mutations. These features may prompt the diagnosis and help to distinguish ADCY5-related disease from other childhood-onset hyperkinetic movement disorders.
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Authors
Bettina Balint, Elena Antelmi, Niccolò E. Mencacci, Amit Batla, Sofia H. Eriksson, Matthew C. Walker, Adolfo M. Bronstein, Kailash P. Bhatia,