Letters to the Editor-'Absence of T378N mutation of ATP1A2 gene in five patients with alternating hemiplegia of childhood'

摘要

SIR-Alternating hemiplegia of childhood (AHC; MIM 104290) is a rare syndrome, characterized by early onset of episodic hemiplegia. The typical clinical features of AHC were summarized at the International Symposium on AHC in 1991: onset before 18 months of age; repeated bouts of hemiplegia involving either side of the body; other paroxysmal disturbances including tonic/dys-tonic attacks, nystagmus, strabismus, and autonomic phenomena occurring during hemiplegic bouts or in isolation; immediate resolution of all symptoms upon going to sleep; and evidence of developmental delay.1 Because of the description of a mutation in the ATP1A2 gene (T378N) in a family with AHC, its involvement in patho-physiological mechanisms has been suggested.2 The ATP1A2 gene maps on chromosome Iq23 and encodes for the alpha2 subunit of the plasma membrane Na-K pump. Here, we investigated this mutation in five patients with sporadic AHC. We have summarized the clinical data of our five patients in Table I. Clinical symptoms ineach patient are consistent with the diagnosis. All had normal magnetic resonance imaging; one had positron emission tomography at 2 years which showed bifrontal and cerebellar hypoperfusion; one had hyperlactacidosis in cerebrospinal fluid.