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Cited by 96Neuroscience and Neuropharmacology ResearchGenomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

The DOI matches its Crossref record; 46 of the 53 references it cites were found in a registry or an index, and 3 are not checked yet.

Evidence of active nerve cell degeneration in the substantia nigra of humans years after 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine exposure

Langston, J. W., Forno, L. S., Tetrud, J., Reeves, A. G., Kaplan, J. A., Karluk, D.·1999·Annals of Neurology
DOI 10.1002/1531-8249(199910)46:4
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Abstract

Hyperekplexia (MIM 149400), or startle disease, is a neurological disorder characterized by generalized stiffness during the neonatal period, excessive startle reflexes, and generalized stiffness related to the startle response. Linkage analysis mapped a major gene for this disorder to chromosome 5q33-35. Subsequently, mutations in the GLRA1 gene, encoding the alpha1 subunit of the glycine receptor, were found in hyperekplexia families with an autosomal dominant or recessive inheritance pattern. In the present study, we describe the genetic analysis of the GLRA1 gene of a family consisting of 2 children with hyperekplexia, 2 nonaffected children, and their healthy nonconsanguineous parents. Although the pedigree suggested the presence of a recessive mutation, haplotype construction showed that the 2 affected children shared the same haplotype combination in which the maternal haplotype differed from the paternal haplotype, suggesting the presence of compound heterozygosity. Mutation analysis revealed different missense mutations on the two haplotypes, changing an arginine to a histidine at amino acid positions 252 and 392, respectively. It is interesting that the hyperekplexia phenotype was only seen in individuals compound heterozygous for the two mutations, whereas family members carrying either one of the two mutations had no clinical signs

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Crossref · 10.1002/1531-8249(199910)46:4<598::aid-ana7>3.0.co;2-f

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46 of 53 references verified0 citation errors · 4 not checkable

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Metadata

Authors
Langston, J. W., Forno, L. S., Tetrud, J., Reeves, A. G., Kaplan, J. A., & Karluk, D.
Venue
Annals of Neurology
Publisher
Wiley
Published
1999-10
Volume
46
Issue
4
Pages
598-605
DOI
10.1002/1531-8249(199910)46:4
OpenAlex
W7132831089
Cited by
1
References
38
Citations by year
2016: 1
FWCI
0.00
Type
journal article
Language
en
Open access
closed
Licence
doi.wiley.com/10.1002/tdm_license_1.1 (tdm, 5814 d)
Locations
Pure Amsterdam UMC (publishedVersion)
Topics
  • Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Neuroscience and Neuropharmacology Research
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
Keywords
hyperekplexia, startle disease, GLRA1, glycine receptor alpha1 subunit, compound heterozygosity, missense mutations, haplotype analysis, autosomal recessive inheritance

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