AI Article Synopsis
- - Alternating Hemiplegia of Childhood (AHC), Rapid-onset Dystonia-Parkinsonism (RDP), and CAPOS syndrome are all linked to mutations in the ATP1A3 gene, previously thought to be distinct disorders but now seen as part of a spectrum.
- - Symptoms for these disorders can start with acute brainstem dysfunction, often triggered by fevers, leading to initial misdiagnosis as infectious or autoimmune issues rather than a genetic condition.
- - The study presents three patients with ATP1A3 mutations—one each diagnosed with AHC, RDP, and CAPOS syndrome—highlighting their overlapping symptoms and emphasizing the need to consider ATP1A3-related disorders in similar cases.
Article Abstract
Alternating Hemiplegia of Childhood (AHC), Rapid-onset Dystonia-Parkinsonism (RDP), and CAPOS syndrome (Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy, and Sensorineural hearing loss) are all caused by mutations in the same gene: ATP1A3. Although initially they were considered separate disorders, recent evidence suggests a continuous clinical spectrum of ATP1A3-related disorders. At onset all these disorders can present with acute brainstem dysfunction triggered by a febrile illness. An infectious or autoimmune disorder is usually suspected. A genetic disorder is rarely considered in the first acute episode. We present three patients with ATP1A3 mutations: one patient with AHC, one patient with RDP, and one patient with CAPOS syndrome. We describe the acute onset and overlapping clinical features of these three patients with classical phenotypes. These cases highlight ATP1A3-related disorders as a possible cause of acute brainstem dysfunction with normal ancillary testing.
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| http://dx.doi.org/10.1016/j.ejpn.2021.08.005 | DOI Listing |
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