Alternating hemiplegia of childhood (AHC) is a rare and severe disorder characterized by episodes of hemiplegia and dystonia alternating in laterality, possibly associated with seizures, abnormal ocular movements, headache and hypotonia. AHC is caused by dominant mutations in the ATP1A3 gene [4, encoding a neuron specific Na+-K+-ATPase pump, which has a crucial role in excitability of neurons and muscles.We present an unreported AHC patient with ATP1A3 gene mutation, who received an unusually long clinical follow-up (44 years) and underwent brain 1H magnetic resonance spectroscopy (MRS) to understand the etiology of neurological deterioration with age.
ATP1A3 mutant patient with alternating hemiplegia of childhood and brain spectroscopic abnormalities.
Gurrieri F;
2017-01-01
Abstract
Alternating hemiplegia of childhood (AHC) is a rare and severe disorder characterized by episodes of hemiplegia and dystonia alternating in laterality, possibly associated with seizures, abnormal ocular movements, headache and hypotonia. AHC is caused by dominant mutations in the ATP1A3 gene [4, encoding a neuron specific Na+-K+-ATPase pump, which has a crucial role in excitability of neurons and muscles.We present an unreported AHC patient with ATP1A3 gene mutation, who received an unusually long clinical follow-up (44 years) and underwent brain 1H magnetic resonance spectroscopy (MRS) to understand the etiology of neurological deterioration with age.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
