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Beyond Dystonia‐Parkinsonism: Chorea and Ataxia with ATP 1A3 Mutations
Author(s) -
Gusmao Claudio M.,
Dy Marisela,
Sharma Nutan
Publication year - 2016
Publication title -
movement disorders clinical practice
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.754
H-Index - 18
ISSN - 2330-1619
DOI - 10.1002/mdc3.12317
Subject(s) - dystonia , chorea , ataxia , parkinsonism , dysphagia , medicine , cerebellar ataxia , movement disorders , atrophy , tetrabenazine , pediatrics , spasticity , athetosis , psychology , anesthesia , pathology , psychiatry , surgery , disease , dopamine
Mutations in the ATP 1A3 gene (the α‐3 subunit of the Na + /K + ATP ase) are associated with rapid‐onset dystonia‐parkinsonism; alternating hemiplegia of childhood; and cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss ( CAPOS syndrome). The authors report 3 cases with pleiotropic movement disorders, including a novel mutation in a patient who presented with ataxia and dysphagia. Case 1 had a history of attention deficit hyperactivity disorder and developed dysphagia, chorea, and limb dystonia after a febrile illness at age 12 years. Case 2 presented with limb dystonia at age 26 years and dysarthia and dysphagia after a febrile illness. Case 3 had a history of learning disability and developed progressive ataxia with cerebellar atrophy at age 20 years. In all cases, deleterious mutations were identified in ATP 1A3. They illustrate wide phenotypic variability, including chorea and ataxia. New cases are likely to be diagnosed as knowledge about the phenotypic spectrum expands.