New V272A presenilin 1 mutation with very early onset subcortical dementia and parkinsonism

@article{JimnezEscrig2004NewVP,
  title={New V272A presenilin 1 mutation with very early onset subcortical dementia and parkinsonism},
  author={Adriano Jim{\'e}nez-Escrig and Alberto R{\'a}bano and Cristina Guerrero and J. Simon and Mar{\'i}a Sagrario Barquero and Imma G{\"u}ell and R C Ginestal and Teresa E Montero and Lu{\'i}s M. Orensanz},
  journal={European journal of neurology},
  year={2004},
  volume={11 10},
  pages={
          663-9
        }
}
In this report, we present the clinical and pathological details of a kindred of four individuals with a novel missense mutation (V272A) of the presenilin 1 gene (PSEN1) that experienced a subcortical dementia. The age of onset of symptoms ranged 26-36-year old, with an age at death of 36-46 years. Initial symptom was a marked mood disorder, with prominent parkinsonism in one case. The neuropsychological study, as well as the neuroimaging and PET in the proband were concordant with a… CONTINUE READING

Citations

Publications citing this paper.
Showing 1-3 of 3 citations