Progression and treatment of a series of patients with advanced LRRK2-associated Parkinson's disease

G Fernández-Pajarín; Á Sesar; I Jiménez-Martín; B Ares; A Castro

doi:10.1016/j.nrl.2020.06.020

Progression and treatment of a series of patients with advanced LRRK2-associated Parkinson's disease

Neurologia (Engl Ed). 2021 Feb 2:S0213-4853(20)30303-0. doi: 10.1016/j.nrl.2020.06.020. Online ahead of print.

[Article in English, Spanish]

Authors

G Fernández-Pajarín¹, Á Sesar², I Jiménez-Martín², B Ares², A Castro²

Affiliations

¹ Unidad de Trastornos del Movimiento, Servicio de Neurología. Hospital Clínico Universitario de Santiago de Compostela, Santiago de Compostela, España. Electronic address: gferpaj@gmail.com.
² Unidad de Trastornos del Movimiento, Servicio de Neurología. Hospital Clínico Universitario de Santiago de Compostela, Santiago de Compostela, España.

PMID: 33541803
DOI: 10.1016/j.nrl.2020.06.020

Abstract

Introduction: LRRK2 mutations have traditionally been associated with a benign phenotype of Parkinson's disease (PD). Favourable responses to deep brain stimulation (DBS) are reported in the advanced phase.

Methods: We performed a retrospective analysis of the clinical characteristics and progression of 13 patients with LRRK2-associated PD (13 with G2019S and one with I1371 V). Nine patients were in the advanced phase, with a mean progression time of 7.2 years before reaching this phase.

Results: Seven patients underwent bilateral subthalamic DBS implantation, and two received infusion treatment. Patients with mutation G2019S responded excellently to DBS, with Unified Parkinson's disease rating scale (UPDRS) II and III scores improving by 80% at six months. This response was sustained over time. The patient with mutation I1371 V had a severe phenotype of the disease, and presented a moderate response to DBS. Patients with advanced LRRK2-associated PD showed predominantly frontal cognitive involvement, with significant language impairment.

Conclusions: In these patients, progression was faster in the advanced stage of the disease. We emphasise the suitability of subthalamic DBS in the management of these patients.

Keywords: Advanced therapy; Deep brain stimulation; Enfermedad de Parkinson; Estimulación cerebral profunda; G2019S; LRRK2 mutations; Mutaciones LRRK2; Parkinson's disease; Terapia avanzada.