LAUSR

We describe the cognitive-behavioral functioning of two adult patients with a mild form of alternating hemiplegia of childhood (AHC). AHC is a rare, chronic neurodevelopmental syndrome manifesting in infancy or early childhood, with recurrent hemiplegic or hemidystonic attacks, various nonepileptic paroxysmal events, and cognitive-behavioral impairments, including mental delay of varying degrees. We conducted neurologic and neuroimaging examinations, as well as a neuropsychological assessment, of two men (22 and 30 years old) with mutations in the ATP1A3 gene (p.Leu757Pro and p.Val332Glu) who were experiencing typical AHC transient episodes of alternating weakness or paralysis in order to investigate causes of their poor social functioning. During neurologic examinations of both patients, which were performed between attacks, we observed involuntary movements such as chorea and upper-limb tremor. One patient also had dysarthria. Magnetic resonance imaging revealed no parenchymal brain lesions or atrophy in either patient. Neuropsychological examinations demonstrated near-normal (patient 1) or normal (patient 2) global cognitive functioning, with some isolated executive functioning deficits. Both patients had emotional and social dysfunction as well as difficulties adapting to normal adult life. Although the clinical presentation of AHC is usually dramatic, some patients have mild forms of the syndrome (eg, no significant intellectual disability). However, motor and movement disorders, as well as coexisting emotional-affective abnormalities, may affect these patients’ ability to adapt to independent life.