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Novel MAPT Val75Ala mutation and PSEN2 Arg62Hys in two siblings with frontotemporal dementia
Neurological Sciences, 10/02/09

Gallo M et al. – The authors performed a clinical and genetic examination in two FTD siblings and their family tree has been reconstructed. They identified a novel Val75Ala MAPT mutation in one patient and in the other the Arg62His Presenilin2 mutation. The DNA variations identified, defined mutations by frequency, per se are not causative of the disease. These mutations, possibly in association with other unknown environmental and genetic factors, may contribute to neurodegeneration.

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