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

TY - JOUR

T1 - High nigral iron deposition in LRRK2 and Parkin mutation carriers using R2* relaxometry

AU - Pyatigorskaya, Nadya

AU - Sharman, Michael

AU - Corvol, Jean-Christophe

AU - Valabregue, Romain

AU - Yahia-Cherif, Lydia

AU - Poupon, Fabrice

AU - Cormier-Dequaire, Florence

AU - Siebner, Hartwig

AU - Klebe, Stephan

AU - Vidailhet, Marie

AU - Brice, Alexis

AU - Lehéricy, Stephane

N1 - © 2015 International Parkinson and Movement Disorder Society.

PY - 2015/7

Y1 - 2015/7

N2 - 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.

AB - 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.

U2 - 10.1002/mds.26218

DO - 10.1002/mds.26218

M3 - Journal article

C2 - 26011561

SN - 0885-3185

VL - 30

SP - 1077

EP - 1084

JO - Movement Disorders

JF - Movement Disorders

IS - 8

ER -