Clinical and MRI correlates of disease progression in a case of nonfluent/agrammatic variant of primary progressive aphasia due to progranulin (GRN) Cys157LysfsX97 mutation

Francesca Caso, Federica Agosta, Giuseppe Magnani, Sebastiano Galantucci, Edoardo G. Spinelli, Daniela Galimberti, Andrea Falini, Giancarlo Comi, Massimo Filippi

Research output: Contribution to journalArticlepeer-review

Abstract

Little is known about the longitudinal changes of brain damage in patients with sporadic nonfluent/agrammatic variant of primary progressive aphasia (nfvPPA) and in progranulin (GRN) mutation carriers. This study reports the clinical and MRI longitudinal data of a patient with nfvPPA carrying GRN Cys157LysfsX97 mutation (GRN +). Voxel-based morphometry, tensor-based morphometry and diffusion tensor MRI were applied to evaluate gray matter (GM) and white matter (WM) changes over three years. The prominent clinical feature was motor speech impairment associated with only mild agrammatism. MRI demonstrated a progressive and severe GM atrophy of inferior fronto-insular-temporo-parietal regions with focal damage to frontotemporal and frontoparietal WM connections. This is the first report of longitudinal MRI data in a nfvPPA- GRN + patient and this report offers new insights into the pathophysiology of the disease.

Original languageEnglish
Pages (from-to)167-172
Number of pages6
JournalJournal of the Neurological Sciences
Volume342
Issue number1-2
DOIs
Publication statusPublished - Jul 15 2014

Keywords

  • Diffusion tensor MRI
  • Nonfluent/agrammatic variant of primary progressive aphasia
  • Progranulin
  • Tensor-based morphometry
  • Voxel-based morphometry
  • White matter damage

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology
  • Medicine(all)

Fingerprint Dive into the research topics of 'Clinical and MRI correlates of disease progression in a case of nonfluent/agrammatic variant of primary progressive aphasia due to progranulin (GRN) Cys157LysfsX97 mutation'. Together they form a unique fingerprint.

Cite this