High nigral iron deposition in LRRK2 and Parkin mutation carriers using R2* relaxometry

Nadya Pyatigorskaya, Michael Sharman, Jean-Christophe Corvol, Romain Valabregue, Lydia Yahia-Cherif, Fabrice Poupon, Florence Cormier-Dequaire, Hartwig Siebner, Stephan Klebe, Marie Vidailhet, Alexis Brice, Stephane Lehéricy

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73 Citationer (Scopus)

Abstract

Objectives
The goal of this work was to investigate iron deposition in the basal ganglia and thalamus in symptomatic and asymptomatic leucine-rich repeat kinase 2 (LRRK2) and Parkin-associated Parkinson's disease (PD), using R2* relaxometry rate.

Methods
Twenty subjects with genetic PD (four symptomatic and two asymptomatic Parkin subjects, nine symptomatic and five asymptomatic LRRK2 subjects) were compared with 20 patients with idiopathic PD (IPD) and 20 healthy subjects. Images were obtained at 3 teslas, using multi-echo T2 and T2* sequences. R2 and R2* values were calculated in the substantia nigra (SN), the striatum, the globus pallidus, and the thalamus.

Results
The R2* values in the SN were increased in IPD and mutation-carrying patients as compared with controls and in mutation-carrying patients as compared with IPD. Asymptomatic mutation carriers showed higher R2* values than controls and did not differ from IPD patients. No changes were seen in the other structures or in R2 values.

Conclusion
These results are consistent with increased iron load in LRRK2- and Parkin-mutation carriers. The increased R2* in asymptomatic PD-mutation carriers suggests that iron deposition occurs early during the preclinical phase of the disease. R2* measurements may be used as markers for investigating nigrostriatal damage in preclinical mutation-carrying patients.
OriginalsprogEngelsk
TidsskriftMovement disorders : official journal of the Movement Disorder Society
Vol/bind30
Udgave nummer8
Sider (fra-til)1077-84
Antal sider8
ISSN0885-3185
DOI
StatusUdgivet - jul. 2015

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