A novel SLC2A1 mutation linking hemiplegic migraine with alternating hemiplegia of childhood.

Autor: Weller CM; Department of Human Genetics, Leiden University Medical Centre, the Netherlands., Leen WG; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, the Netherlands., Neville BG; Neurosciences Unit, Institute of Child Health, UCL Medical School and Great Ormond Street Hospital for Children NHS Trust, UK., Duncan JS; UCL Institute of Neurology, UK., de Vries B; Department of Human Genetics, Leiden University Medical Centre, the Netherlands., Geilenkirchen MA; Department of Human Genetics, Leiden University Medical Centre, the Netherlands., Haan J; Neurosciences Unit, Institute of Child Health, UCL Medical School and Great Ormond Street Hospital for Children NHS Trust, UK Department of Neurology, Rijnland Hospital, the Netherlands., Kamsteeg EJ; Department of Human Genetics, Institute for Genetic and Metabolic Disease, Radboud University Medical Centre, the Netherlands., Ferrari MD; Department of Neurology, Leiden University Medical Center, the Netherlands., van den Maagdenberg AM; Department of Human Genetics, Leiden University Medical Centre, the Netherlands Department of Neurology, Leiden University Medical Center, the Netherlands., Willemsen MA; Department of Paediatric Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, the Netherlands., Scheffer H; Department of Human Genetics, Institute for Genetic and Metabolic Disease, Radboud University Medical Centre, the Netherlands., Terwindt GM; Department of Neurology, Leiden University Medical Center, the Netherlands G.M.Terwindt@lumc.nl.
Jazyk: angličtina
Zdroj: Cephalalgia : an international journal of headache [Cephalalgia] 2015 Jan; Vol. 35 (1), pp. 10-5. Date of Electronic Publication: 2014 May 13.
DOI: 10.1177/0333102414532379
Abstrakt: Background: Hemiplegic migraine (HM) and alternating hemiplegia of childhood (AHC) are rare episodic neurological brain disorders with partial clinical and genetic overlap. Recently, ATP1A3 mutations were shown to account for the majority of AHC patients. In addition, a mutation in the SLC2A1 gene was reported in a patient with atypical AHC. We therefore investigated whether mutations in these genes may also be involved in HM. Furthermore, we studied the role of SLC2A1 mutations in a small set of AHC patients without ATP1A3 mutations.
Methods: We screened 42 HM patients (21 familial and 21 sporadic patients) for ATP1A3 and SLC2A1 mutations. In addition, four typical AHC patients and one atypical patient with overlapping symptoms of both disorders were screened for SLC2A1 mutations.
Results: A pathogenic de novo SLC2A1 mutation (p.Gly18Arg) was found in the atypical patient with overlapping symptoms of AHC and hemiplegic migraine. No mutations were found in the HM and the other AHC patients.
Conclusion: Screening for a mutation in the SLC2A1 gene should be considered in patients with a complex phenotype with overlapping symptoms of hemiplegic migraine and AHC.
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Databáze: MEDLINE
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