@article{10902/24042,
year = {2021},
month = {12},
url = {http://hdl.handle.net/10902/24042},
abstract = {Background:
Carriers of the G2019S mutation of LRRK2 provide a great opportunity to investigate the premotor stages of Parkinson's disease (PD). We have studied by serial clinical and dopamine transporter single photon emission computed tomography (DaT-SPECT) evaluations a cohort of asymptomatic carriers of the LRRK2-G2019S mutation in order to evaluate the usefulness of these tools as biomarkers. Here we report the results of the extended follow-up of this cohort at 8 years.
Methods:
Seventeen participants, of the 25 available from the 4-year evaluation, completed the 8-year assessment. UPDRS-III, UPSIT test and DaT-SPECT imaging (123I-ioflupane) were performed. We used repeated-measures linear mixed effects models to examine the changes in DaT binding over time.
Results:
Three carriers had converted to PD at 4 years. One additional carrier converted at 8 years. PD-converters had lower striatal DaT binding at baseline than non-converters. There was a significant decline of DaT binding over time, with a mean annual rate of 3.5%, with somewhat inter-individual and intra-individual variability and comparable between PD-converters and non-converters. No carrier with DAT binding ratio above an undefined threshold between 0.5 and 0.8 developed PD symptoms. The age-adjusted UPSIT score did not change significantly over time.
Conclusions:
The rate of conversion to PD at 8 years in this cohort aged ~58 years at baseline was 16%. The observed decline of DaT binding over time and its association with the phenotype render DaT-SPECT a potentially useful tool for monitoring the premotor stage of the disease, although at the individual level its ability to predict phenoconversion is limited.},
publisher = {Wiley},
publisher = {European journal of neurology,  2021;28:4204? 4208},
title = {Serial DaT-SPECT imaging in asymptomatic carriers of LRRK2 G2019S mutation: 8 years'  follow-up},
author = {Sánchez- Rodríguez, Antonio and Martínez-Rodríguez, Isabel and Sánchez-Juan, Pascual and Sierra Peña, María and González-Aramburu, Isabel and Rivera-Sánchez, María and Andrés- Pacheco, Javier and Gutierrez-González, Ángela and García-Hernández, Adrián and Madera, Jorge and Delgado-Alvarado, Manuel and Infante Ceberio, Jon},
}