Evidence of pre-synaptic dopaminergic deficit in a patient with a novel progranulin mutation presenting with atypical parkinsonism

Miryam Carecchio, Daniela Galimberti, Chiara Fenoglio, Maria Serpente, Elio Scarpini, Cristoforo Comi, Emanuela Terazzi, Roberto Cantello

Research output: Contribution to journalArticlepeer-review

Abstract

Parkinsonism can be the presenting feature of frontotemporal dementia due to Progranulin (GRN) mutations or develop over the course of the disease, mimicking idiopathic Parkinson's disease or atypical parkinsonism. Here we report on a patient carrying a novel GRN mutation who presented with asymmetric parkinsonism and developed cognitive decline and language alterations two years later. Brain MRI showed mild asymmetric fronto-parietal atrophy. Single-photon emission computed tomography with I123 ioflupane (DAT-Scan) demonstrated reduced tracer uptake in the left putamen. Larger studies are needed to clarify whether presynaptic dopaminergic deficit is present in all GRN mutation carriers or only in those with parkinsonism.

Original languageEnglish
Pages (from-to)747-752
Number of pages6
JournalJournal of Alzheimer's Disease
Volume38
Issue number4
DOIs
Publication statusPublished - 2014

Keywords

  • Atypical
  • DAT-Scan
  • Frontotemporal dementia
  • Parkinsonism
  • Progranulin

ASJC Scopus subject areas

  • Psychiatry and Mental health
  • Geriatrics and Gerontology
  • Clinical Psychology

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