ATP1A3 mutant patient with alternating hemiplegia of childhood and brain spectroscopic abnormalities.

Giovanni Neri, Fiorella Gurrieri, Manlio Giacanelli, Antonio Petrucci, Ludovico Lispi, Rodolfo Luna, Corrado Angelini

Risultato della ricerca: Contributo in rivistaArticolo in rivista

2 Citazioni (Scopus)

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.
Lingua originaleEnglish
pagine (da-a)36-38
Numero di pagine3
RivistaJournal of the Neurological Sciences
DOI
Stato di pubblicazionePubblicato - 2017

Keywords

  • ATP1A3
  • alternating hemiplegia of childhood

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