The EAAT2 (GLT-1) gene in motor neuron disease: Absence of mutations in amyotrophic lateral sclerosis and a point mutation in patients with hereditary spastic paraplegia

Journal of Neurology Neurosurgery and Psychiatry

Volumn 65, Issue 4, 1998, Pages 594-596

  Meyer, Thomas ^a   Münch, Christoph ^a   Völkel, Helge ^a   Booms, Patrick ^b   Ludolph, Albert C ^a  

^a UNIVERSITY OF ULM   (Germany)

^b HUMBOLDT UNIVERSITY   (Germany)

Author keywords

Amyotrophic lateral sclerosis; Glutamate transporter; Hereditary spastic paraplegia; Sequence alteration

Indexed keywords

ADULT; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CONTROLLED STUDY; FEMALE; GENE EXPRESSION; GENE MUTATION; GENE SEGREGATION; GENE SEQUENCE; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MALE; MOTOR NEURON DISEASE; PATHOGENESIS; POINT MUTATION; PRIORITY JOURNAL;

EID: 0031755870     PISSN: 00223050     EISSN: None     Source Type: Journal    
DOI: 10.1136/jnnp.65.4.594     Document Type: Article

References (11)

1. Nicholls D, Attwell. The release and uptake of excitatory amino acids. Trends Pharmacol Sci 1990;11:462-8.
2. Rothstein JD, Van Kammen M, Levey AI, et al. Selective loss of glial glutamate transporter GLT-1 in amyotrophic lateral sclerosis. Ann Neurol 1995;38:73-84.
3. Spencer PS. Lathyrism. In: Vinken PJ, Bruyn GW, eds. Handbook of clinical neurology. Amsterdam: Elsevier, 1994;21:1-20.
4. Sutherland JM. Familial spastic paraplegia. In: Vinken PJ, Bruyn GW, eds. Handbook of clinical neurology. Amsterdam: Elsevier, 1975;22:421-431.
5. Fink JK, Heiman-Patterson T, et al. Hereditary spastic paraplegia: advances in genetic research. Neurology 1996; 46:1507-14.
6. Brooks BR. El Escorial World Federation of Neurology criteria for the diagnosis of amyotrophic lateral sclerosis. J Neurol Sci 1994;124S:96-107.
7. Meyer T, Ludolph AC, Morkel M, et al. Genomic organization of the excitatory amino acid transporter gene GLT-1. Neuroreport 1997;8:775-7.
8. Arriza JL, Fairmann WA, Wadiche JI, et al. Functional comparisons of three glutamate transporter subtypes cloned fom human motor cortex. J Neurosci 1994;14:5559-69.
9. Meyer T, Meyer B, Sitte W, et al. The glial glutamate transporter complementary DNA in patients with amyotrophic lateral sclerosis. Ann Neurol 1996;49:456-9.
10. Arriza JL, Kavanaugh MP, Wadiche JI, et al. Cloning and expression of a human neutral amino acid transporter with structural similarity to the glutamate transporter gene family. J Biol Chem 1993;268:15329-32.
11. Dürr A, Davoine CS, Paternotte C, et al. Phenotype of autosomal dominant spastic paraplegia linked to chromosome 2. Brain 1996;119:1487-96.