Novel mutation in the NHLRC1 gene in a Malian family with a severe phenotype of Lafora disease

M. Traoré, G. Landouré, W. Motley, M. Sangaré, K. Meilleur, S. Coulibaly, S. Traoré, B. Niaré, F. Mochel, A. La Pean, Alexander Vortmeyer, H. Mani, K. H. Fischbeck

Research output: Contribution to journalArticle

14 Citations (Scopus)

Abstract

We studied a Malian family with parental consanguinity and two of eight siblings affected with late-childhoodonset progressive myoclonus epilepsy and cognitive decline, consistent with the diagnosis of Lafora disease. Genetic analysis showed a novel homozygous single-nucleotide variant in the NHLRC1 gene, c.560A>C, producing the missense change H187P. The changed amino acid is highly conserved, and the mutation impairs malin's ability to degrade laforin in vitro. Pathological evaluation showed manifestations of Lafora disease in the entire brain, with particularly severe involvement of the pallidum, thalamus, and cerebellum. Our findings document Lafora disease with severe manifestations in the West African population.

Original languageEnglish (US)
Pages (from-to)319-323
Number of pages5
JournalNeurogenetics
Volume10
Issue number4
DOIs
StatePublished - Apr 8 2009
Externally publishedYes

Fingerprint

Lafora Disease
Phenotype
Mutation
Progressive Myoclonic Epilepsy
Genes
Consanguinity
Globus Pallidus
Aptitude
Thalamus
Cerebellum
Nucleotides
Amino Acids
Brain
Population

Keywords

  • Clinical neurology
  • Dementia
  • Epilepsy/seizures
  • Genetics
  • Myoclonus

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)
  • Cellular and Molecular Neuroscience

Cite this

Traoré, M., Landouré, G., Motley, W., Sangaré, M., Meilleur, K., Coulibaly, S., ... Fischbeck, K. H. (2009). Novel mutation in the NHLRC1 gene in a Malian family with a severe phenotype of Lafora disease. Neurogenetics, 10(4), 319-323. https://doi.org/10.1007/s10048-009-0190-4

Novel mutation in the NHLRC1 gene in a Malian family with a severe phenotype of Lafora disease. / Traoré, M.; Landouré, G.; Motley, W.; Sangaré, M.; Meilleur, K.; Coulibaly, S.; Traoré, S.; Niaré, B.; Mochel, F.; La Pean, A.; Vortmeyer, Alexander; Mani, H.; Fischbeck, K. H.

In: Neurogenetics, Vol. 10, No. 4, 08.04.2009, p. 319-323.

Research output: Contribution to journalArticle

Traoré, M, Landouré, G, Motley, W, Sangaré, M, Meilleur, K, Coulibaly, S, Traoré, S, Niaré, B, Mochel, F, La Pean, A, Vortmeyer, A, Mani, H & Fischbeck, KH 2009, 'Novel mutation in the NHLRC1 gene in a Malian family with a severe phenotype of Lafora disease', Neurogenetics, vol. 10, no. 4, pp. 319-323. https://doi.org/10.1007/s10048-009-0190-4
Traoré M, Landouré G, Motley W, Sangaré M, Meilleur K, Coulibaly S et al. Novel mutation in the NHLRC1 gene in a Malian family with a severe phenotype of Lafora disease. Neurogenetics. 2009 Apr 8;10(4):319-323. https://doi.org/10.1007/s10048-009-0190-4
Traoré, M. ; Landouré, G. ; Motley, W. ; Sangaré, M. ; Meilleur, K. ; Coulibaly, S. ; Traoré, S. ; Niaré, B. ; Mochel, F. ; La Pean, A. ; Vortmeyer, Alexander ; Mani, H. ; Fischbeck, K. H. / Novel mutation in the NHLRC1 gene in a Malian family with a severe phenotype of Lafora disease. In: Neurogenetics. 2009 ; Vol. 10, No. 4. pp. 319-323.
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