Familial benign frontotemporal deterioration with C9ORF72 hexanucleotide expansion.

@article{GmezTortosa2014FamilialBF,
  title={Familial benign frontotemporal deterioration with C9ORF72 hexanucleotide expansion.},
  author={Estrella G{\'o}mez-Tortosa and Soledad Serrano and Mar{\'i}a de Toledo and Juli{\'a}n P{\'e}rez-P{\'e}rez and Ma Jos{\'e} Sainz},
  journal={Alzheimer's & dementia : the journal of the Alzheimer's Association},
  year={2014},
  volume={10 5 Suppl},
  pages={S284-9}
}
BACKGROUND In recent years, a benign variant of frontotemporal lobar degeneration (FTLD) has been recognized, with a particularly slow progression of cognitive deficits and scarce frontotemporal atrophy or hypoperfusion in neuroimaging studies. Patients with FTLD have been considered "phenocopies," with an underlying nondegenerative neurologic process. RESULTS We report the first family with three affected members having benign FTLD associated with C9ORF72 gene hexanucleotide expansion. Onset… CONTINUE READING
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