Title : Episodic ataxia associated with EAAT1 mutation C186S affecting glutamate reuptake - de Vries_2009_Arch.Neurol_66_97 |
Author(s) : de Vries B , Mamsa H , Stam AH , Wan J , Bakker SL , Vanmolkot KR , Haan J , Terwindt GM , Boon EM , Howard BD , Frants RR , Baloh RW , Ferrari MD , Jen JC , van den Maagdenberg AM |
Ref : Archives of Neurology , 66 :97 , 2009 |
Abstract :
BACKGROUND: Episodic ataxia (EA) is variably associated with additional neurologic symptoms. At least 4 genes have been implicated. Recently, a mutation in the SLC1A3 gene encoding the glutamate transporter EAAT1 was identified in a patient with severe episodic and progressive ataxia, seizures, alternating hemiplegia, and migraine headache. The mutant EAAT1 showed severely reduced uptake of glutamate. The syndrome was designated EA6 and shares overlapping clinical features with EA2, which is caused by mutations in CACNA1A. OBJECTIVE: To test the role of the SLC1A3 gene in EA. DESIGN: Genetic and functional studies. We analyzed the coding region of the SLC1A3 gene by direct sequencing. SETTING: Academic research. PATIENTS: DNA samples from 20 patients with EA (with or without interictal nystagmus) negative for CACNA1A mutations were analyzed. MAIN OUTCOME MEASURES: We identified 1 novel EAAT1 mutation in a family with EA and studied the functional consequences of this mutation using glutamate uptake assay. |
PubMedSearch : de Vries_2009_Arch.Neurol_66_97 |
PubMedID: 19139306 |
de Vries B, Mamsa H, Stam AH, Wan J, Bakker SL, Vanmolkot KR, Haan J, Terwindt GM, Boon EM, Howard BD, Frants RR, Baloh RW, Ferrari MD, Jen JC, van den Maagdenberg AM (2009)
Episodic ataxia associated with EAAT1 mutation C186S affecting glutamate reuptake
Archives of Neurology
66 :97
de Vries B, Mamsa H, Stam AH, Wan J, Bakker SL, Vanmolkot KR, Haan J, Terwindt GM, Boon EM, Howard BD, Frants RR, Baloh RW, Ferrari MD, Jen JC, van den Maagdenberg AM (2009)
Archives of Neurology
66 :97