Familial childhood-onset progressive cerebellar syndrome associated with the ATP1A3 mutation
2017
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. Positional mutations 274, 583, 867, and
923 lead to both RDP and AHC, suggesting different
pathomechanisms.4,5 The E818K mutation underlies
all reported cases of CAPOS/CAOS, including an
AHC-CAPOS overlap syndrome.6 We report a family
with features of all 3 ATP1A3-spectrum disorders.
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