Segregation of a missense mutation in the microtubule-associated protein tau gene with familial frontotemporal dementia and parkinsonism.

@article{Dumanchin1998SegregationOA,
  title={Segregation of a missense mutation in the microtubule-associated protein tau gene with familial frontotemporal dementia and parkinsonism.},
  author={C{\'e}cile Dumanchin and Agn{\`e}s Camuzat and Dominique Campion and Patrice Verpillat and Didier Hannequin and Bruno Dubois and Pascale Saugier-V{\'e}ber and C{\'e}sar Gavil{\'a}n Mart{\'i}n and Clotilde Penet and Françoise Charbonnier and Yves Agid and Thierry 11 Fr{\'e}bourg and Alexis Brice},
  journal={Human molecular genetics},
  year={1998},
  volume={7 11},
  pages={1825-9}
}
Frontotemporal dementia and parkinsonism (FTDP) is the second most common cause of neurodegenerative dementia after Alzheimer's disease. Recently, several kindreds with an autosomal dominant form of FTDP have been reported and in some families the pathological locus was mapped to a 2 cM interval on 17q21-22. The MAPT gene, located on 17q21 and coding for the human microtubule-associated protein tau, is a strong candidate gene, since tau-positive neuronal inclusions have been observed in brains… CONTINUE READING

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