|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.