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Late-onset episodic ataxia associated with SLC1A3 mutation
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Late-onset episodic ataxia associated with SLC1A3 mutation
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Journal Article
Late-onset episodic ataxia associated with SLC1A3 mutation
2017
Overview
Episodic ataxia type 6 (EA6) is caused by mutations in SLC1A3 that encodes excitatory amino acid transporter 1 (EAAT1), a glial glutamate transporter. EAAT1 regulates the extent and durations of glutamate-mediated signal by the clearance of glutamate after synaptic release. In addition, EAAT1 also has an anion channel activity that prevents additional glutamate release. We identified a missense mutation in SLC1A3 in a family with EA. The proband exhibited typical EA2-like symptoms such as recurrent ataxia, slurred speech with a duration of several hours, interictal nystagmus and response to acetazolamide, but had late-onset age of sixth decade. Whole-exome sequencing detected a heterozygous c.1177G>A mutation in SLC1A3. This mutation predicted a substitution of isoleucine for a highly conserved valine residue in the seventh transmembrane domain of EAAT1. The mutation was not present in 100 controls, a large panel of in-house genome data and various mutation databases. Most functional prediction scores revealed to be deleterious. Same heterozygous mutation was identified in one clinically affected family member and two asymptomatic members. Our data expand the mutation spectrum of SLC1A3 and the clinical phenotype of EA6.
Publisher
Nature Publishing Group
Subject
/ Acetazolamide - therapeutic use
/ Adult
/ Anticonvulsants - therapeutic use
/ Ataxia
/ Cerebellar Ataxia - diagnosis
/ Cerebellar Ataxia - drug therapy
/ Cerebellar Ataxia - genetics
/ Cerebellar Ataxia - pathology
/ Excitatory Amino Acid Transporter 1 - chemistry
/ Excitatory Amino Acid Transporter 1 - genetics
/ Excitatory amino acid transporters
/ Female
/ Genomes
/ Humans
/ Male
/ Mutation
/ Pedigree
/ Valine
