Evidence of Pre-Synaptic Dopaminergic Deficit in a Patient with a Novel Progranulin Mutation Presenting with Atypical Parkinsonism^†

Article type: Short Communication

Authors: Carecchio, Miryam^{a; 1; *} | Galimberti, Daniela^{b; 1} | Fenoglio, Chiara^b | Serpente, Maria^b | Scarpini, Elio^b | Comi, Cristoforo^a | Terazzi, Emanuela^a | Cantello, Roberto^a

Affiliations: [a] Department of Neurology, Amedeo Avogadro University, Novara, Italy | [b] Fondazione Cá Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy

Correspondence: [*] Correspondence to: Miryam Carecchio, MD, Department of Neurology, Amedeo Avogadro University, Corso Mazzini, 18, 28100 Novara, Italy. Tel.: +39 0321 3733965; Fax: +39 0321 3733298; E-mail: mcarecchio@gmail.com.

Note: [†] This article is in memory of Professor Francesco Monaco, MD, 1946–2011.

Note: [1] These authors contributed equally to this manuscript.

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.

Keywords: Atypical, DAT-Scan, frontotemporal dementia, parkinsonism, progranulin

DOI: 10.3233/JAD-131151

Journal: Journal of Alzheimer's Disease, vol. 38, no. 4, pp. 747-752, 2014