Familial childhood-onset progressive cerebellar syndrome associated with the ATP1A3 mutation
The allelic disorders rapid-onset dystonia-parkinsonism (RDP), alternating hemiplegia of childhood (AHC), and CAPOS/CAOS syndrome (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural deafness) are caused by ATP1A3 mutations.1,–,3 Intermediate RDP-AHC phenotypes are emerging. Po...
| Main Authors: | , , , , , , , |
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| Format: | Journal article |
| Language: | English |
| Published: |
American Academy of Neurology Journals
2017
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