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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Novel mutation in the NHLRC1 gene in a Malian family with a severe phenotype of Lafora disease
Neurogenetics, Volume 10, No. 4, Year 2009
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Description
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. © The Author(s) 2009.
Available Materials
https://efashare.b-cdn.net/share/pmc/articles/PMC2758214/bin/10048_2009_190_MOESM1_ESM.pdf
https://efashare.b-cdn.net/share/pmc/articles/PMC2758214/bin/10048_2009_190_MOESM2_ESM.pdf
Authors & Co-Authors
Traoré, Mahamadou Namory
Mali, Bamako
University of Bamako
Landouré, Guida
Mali, Bamako
University of Bamako
United Kingdom, London
University College London
United States, Bethesda
National Institute of Neurological Disorders and Stroke
Motley, William W.
United States, Bethesda
National Institute of Neurological Disorders and Stroke
Sangaré, Modibo
Mali, Bamako
University of Bamako
United States, Bethesda
National Institute of Neurological Disorders and Stroke
Meilleur, Katherine Gloria
United States, Bethesda
National Institute of Neurological Disorders and Stroke
United States, Bethesda
National Institute of Nursing Research Ninr
United States, Baltimore
Johns Hopkins University
Coulibaly, Souleymane B.
Mali, Bamako
University of Bamako
Traoré, Siona
Mali, Bamako
University of Bamako
Niaré, Boubacar
Mali, Bamako
University of Bamako
Mochel, Fanny
United States, Bethesda
National Institute of Neurological Disorders and Stroke
France, Paris
Hôpital Universitaire Pitié Salpêtrière
la Pean, Alison
United States, Bethesda
National Institute of Neurological Disorders and Stroke
Vortmeyer, Alexander Oliver
United States, Bethesda
National Institute of Neurological Disorders and Stroke
Mani, H.
United States, Rockville
National Cancer Institute Nci
Fischbeck, Kenneth H.
United States, Bethesda
National Institute of Neurological Disorders and Stroke
Statistics
Citations: 19
Authors: 13
Affiliations: 7
Identifiers
Doi:
10.1007/s10048-009-0190-4
ISSN:
13646745
e-ISSN:
13646753
Research Areas
Cancer
Genetics And Genomics
Study Design
Cross Sectional Study