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a Department of Neurology,
University of Ulm, Oberer Eselsberg 45, 89081 Ulm, Federal Republic of
Germany, b Molecular Pediatrics, Humboldt University, Charité
Hospital, Ziegelstr. 5-9, 10117 Berlin, Federal Republic of Germany
Correspondence to: Professor Albert C Ludolph, University of Ulm, Department of Neurology, Steinhövelstrasse 9, 89081 Ulm, Germany. Telephone 0049 731 177 1200; fax 0049 731 177 1202.
Received 5 September 1997 and in revised form 26 January 1998;
Accepted 19 March 1998
OBJECTIVES
To investigate if sequence alterations
of the excitatory amino acid transporter gene EAAT2 (GLT-1) may be a
contributory factor to the pathogenesis of motor system degeneration.
EAAT2 serves as a candidate gene as its reduced expression was reported
in patients with amyotrophic lateral sclerosis (ALS). Furthermore, neurolathyrism, a motor neuron disease clinically related to hereditary spastic paraplegia (HSP), has been associated with an exogenous excitotoxin.
METHODSSequence alterations were screened for in
the coding region of EAAT2 in 55 patients with ALS and one family with
autosomal dominant HSP (AD-HSP).
RESULTSIn ALS, no sequence alteration in the
EAAT2 gene have been found. Interestingly, a heterozygous A79G mutation
of the EAAT2 gene was detected in two of seven affected patients with
AD-HSP in the same kindred. The absence of cosegregation with the
familial disease showed that the detected variant was not the cause of disease. The A79G sequence variant was not found in 55 patients with
ALS or in 50 non-neurological controls.
CONCLUSIONThe allelic variant of the EAAT2 gene
in conjunction with the primary gene defect may be a modifying factor
for the highly variable AD-HSP phenotype.
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