Reference : Effective long-term subthalamic stimulation in PARK8 positive Parkinson's disease.
Scientific journals : Article
Life sciences : Genetics & genetic processes
http://hdl.handle.net/10993/17238
Effective long-term subthalamic stimulation in PARK8 positive Parkinson's disease.
English
Breit, Sorin [> >]
Wachter, T. [> >]
Schmid-Bielenberg, D. [> >]
Weiss, D. [> >]
Leitner, P. [> >]
Nagele, T. [> >]
Freudenstein, D. [> >]
Gasser, T. [> >]
Krüger, Rejko mailto [University of Luxembourg > Faculty of Science, Technology and Communication (FSTC) > Life Science Research Unit]
2010
Journal of neurology
257
7
1205-7
Yes (verified by ORBilu)
0340-5354
1432-1459
Germany
[en] DNA Mutational Analysis ; Electric Stimulation Therapy/methods/standards/statistics & numerical data ; Genetic Markers/genetics ; Genetic Predisposition to Disease/genetics ; Genotype ; Humans ; Levodopa/therapeutic use ; Male ; Middle Aged ; Mutation, Missense/genetics ; Parkinson Disease/genetics/physiopathology/therapy ; Predictive Value of Tests ; Protein-Serine-Threonine Kinases/genetics ; Subthalamic Nucleus/anatomy & histology/physiology ; Time ; Treatment Outcome
[en] Whether patients with genetically defined Parkinson's disease (PD) may be particularly eligible to benefit from deep brain stimulation of the nucleus subthalamicus (STN-DBS) is currently the subject of debate. We report on a patient with advanced PD due to R793M missense mutation in the LRRK2 gene successfully treated by STN-DBS. Disease onset was at age 42 with bradykinesia, rigidity and rest tremor. During the course of the disease he developed severe motor fluctuations, dyskinesias, postural instability with falls, but preserved levodopa responsiveness. At age 60 the patient was treated by bilateral DBS of the STN. At one year after surgery a 66% improvement of the UPDRS motor score in the off-medication state was determined. During the long-term follow-up there was sustained benefit with 56% improvement of motor score after 8 years. Our report adds evidence that patients with LRRK2 monogenetic Parkinsonism are well suited candidates for DBS treatment and may indicate a potential genetic predictor for positive long-term effect of STN-DBS treatment.
Luxembourg Centre for Systems Biomedicine (LCSB): Clinical & Experimental Neuroscience (Krüger Group)
http://hdl.handle.net/10993/17238
10.1007/s00415-010-5493-8

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