Evidence of pre-synaptic dopaminergic deficit in a patient with a novel progranulin mutation presenting with atypical parkinsonism.
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.
Department of Neurology, Amedeo Avogadro University, Novara, Italy.
Miryam
M
Carecchio
Daniela
D
Galimberti
Chiara
C
Fenoglio
Maria
M
Serpente
Elio
E
Scarpini
Cristoforo
C
Comi
Emanuela
E
Terazzi
Roberto
R
Cantello
D003937:Diagnosis, Differential; D004298:Dopamine / Q000502:physiology*; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010300:Parkinson Disease / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D017729:Presynaptic Terminals / Q000502:physiology*; D000077153:Progranulins
C492314:GRN protein, human; D036341:Intercellular Signaling Peptides and Proteins; D000077153:Progranulins; D004298:Dopamine
Atypical; DAT-Scan; frontotemporal dementia; parkinsonism; progranulin