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Global AHC research » New research
Distinct neurological disorders with ATP1A3 mutations
Read the latest review in Lancet Neurol. 2014 May;13(5):503-514

Mutations in the ATP1A3 gene have been identified in CAPOS syndrome

CAPOS (cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss) is a rare dominantly inherited syndrome. Researchers from Canada and the UK identified identical heterozygous missense mutation, c.2452G > A (p.(Glu818Lys), in three unrelated affected families with CAPOS.

Asystole in alternating hemiplegia with de novo ATP1A3 mutation
A study in the UK investigated a  case with  new-onset episodes of collapse in early adulthood and found that these were caused by  episodes of asystole. The implantation of a pacemaker ceased  the episodes. The authors warn that potentially life-threatening cardiac arrhythmia can develop later in the course of alternating hemiplegia. 

Estimated prevalence of AHC in Denmark comes to 1 per 100,000 children

Through a nationwide survey among the Danish paediatric population, Hoei-Hansen et al 2013 identified 10 patients which fulfilled the clinical diagnostic criteria for AHC, thus estimating prevalence of AHC of approximately 1:100,000.
The expanding clinical and genetic spectrum of ATP1A3-related disorders
 Rosewich et al Neurology 2014;82:1–11, analysed  183  new and published AHC and RDP cases with ATP1A3 mutations  and  concluded that  AHC and RDP constitute  a continuous phenotypic spectrum of ATP1A3-related disorders.
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