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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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DJ-1 mutations and parkinsonism-dementia-amyotrophic lateral sclerosis complex.

DJ-1 gene mutations have been found to cause early-onset Parkinson's disease. We report a family from southern Italy with three brothers affected by early-onset parkinsonism, dementia, and amyotrophic lateral sclerosis. Molecular analysis of the DJ-1 gene in two living patients showed a novel homozygous mutation in exon 7 (E163K) and a new homozygous mutation (g.168_185dup) in the promoter region of the gene. Both mutations cosegregated with the disease and were detected in a heterozygous state in the patients' mother and their healthy siblings. Our findings expand the spectrum of clinical presentations associated with mutations in DJ-1 gene.[1]

References

  1. DJ-1 mutations and parkinsonism-dementia-amyotrophic lateral sclerosis complex. Annesi, G., Savettieri, G., Pugliese, P., D'Amelio, M., Tarantino, P., Ragonese, P., La Bella, V., Piccoli, T., Civitelli, D., Annesi, F., Fierro, B., Piccoli, F., Arabia, G., Caracciolo, M., Cirò Candiano, I.C., Quattrone, A. Ann. Neurol. (2005) [Pubmed]
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