Neuropediatrics 2006; 37(5): 302-304
DOI: 10.1055/s-2006-924609
Short Communications

Georg Thieme Verlag KG Stuttgart · New York

Alternating Hemiplegia of Childhood: No Mutations in the Glutamate Transporter EAAT1

B. de Vries1 , J. Haan2 , 3 , A. H. Stam2 , K. R. J. Vanmolkot1 , H. Stroink4 , L. A. E. M. Laan2 , D. S. Gill5 , J. Pascual6 , R. R. Frants1 , A. M. J. M. van den Maagdenberg1 , 2 , M. D. Ferrari2
  • 1Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands
  • 2Department of Neurology, Leiden University Medical Centre, Leiden, The Netherlands
  • 3Department of Neurology, Rijnland Hospital, Leiderdorp, The Netherlands
  • 4Department of Neurology, St Elisabeth and Tweesteden Hospital, Tilburg, The Netherlands
  • 5TY Nelson Department of Neurology, The Children's Hospital at Westmead, Sydney, Australia
  • 6Department of Neurology, University Hospital, Salamanca, Spain
Further Information

Publication History

Received: June 26, 2006

Accepted after Revision: August 9, 2006

Publication Date:
18 January 2007 (online)

Abstract

Alternating hemiplegia of childhood (AHC) is a severe brain disorder, mainly characterised by episodes of hemiplegia, progressive mental retardation, and other severe paroxysmal and permanent neurological symptoms. Clinically and genetically, there is some overlap with sporadic (SHM) and familial (FHM) hemiplegic migraine, a severe monogenic subtype of migraine. Although no mutations were detected in the FHM1 CACNA1A and FHM2 ATP1A2 genes in sporadic AHC patients, a mutation was found in the FHM2 ATP1A2 gene in a family with AHC. Recently, a missense mutation was found in the SLC1A3 gene that encodes the glutamate transporter EAAT1, in a patient with alternating hemiplegia, episodic ataxia, seizures, and headache. Because of the remarkable clinical similarities and the potential role of glutamate in AHC, we analysed six sporadic patients with AHC for mutations in the SLC1A3 gene. No mutations were found. The SLC1A3 EAAT1 glutamate transporter gene does not seem to be involved in the pathogenesis of AHC.

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MD PhD Joost Haan

Department of Neurology (K5Q)
Leiden University Medical Centre

PO Box 9600

2300 RC Leiden

The Netherlands

Email: j.haan@rijnland.nl