TY - JOUR
T1 - ATP1A3 mutant patient with alternating hemiplegia of childhood and brain spectroscopic abnormalities.
AU - Giacanelli, Manlio
AU - Petrucci, Antonio
AU - Lispi, Ludovico
AU - Luna, Rodolfo
AU - Neri, Giovanni
AU - Gurrieri, Fiorella
AU - Angelini, Corrado
PY - 2017
Y1 - 2017
N2 - 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.
AB - 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.
KW - ATP1A3
KW - alternating hemiplegia of childhood
KW - ATP1A3
KW - alternating hemiplegia of childhood
UR - http://hdl.handle.net/10807/112149
U2 - 10.1016/j.jns.2017.05.041
DO - 10.1016/j.jns.2017.05.041
M3 - Article
SN - 0022-510X
SP - 36
EP - 38
JO - Journal of the Neurological Sciences
JF - Journal of the Neurological Sciences
ER -