[HTML][HTML] Genetic testing of movements disorders: A review of clinical utility

D Yeow, LI Rudaks, SF Siow, RL Davis… - Tremor and Other …, 2024 - ncbi.nlm.nih.gov
Currently, pathogenic variants in more than 500 different genes are known to cause various
movement disorders. The increasing accessibility and reducing cost of genetic testing has …

Consensus Guidance for Genetic Counseling in GBA1 Variants: A Focus on Parkinson's Disease

SRL Vieira, R Mezabrovschi, M Toffoli… - Movement …, 2024 - Wiley Online Library
Glucocerebrosidase (GBA1) variants constitute numerically the most common known
genetic risk factor for Parkinson's disease (PD) and are distributed worldwide. Access to …

Cognitive phenotyping of GBA1-Parkinson's disease: A study on deep brain stimulation outcomes

JM Fernández-Vidal, I Aracil-Bolaños… - Parkinsonism & Related …, 2024 - Elsevier
Background Heterozygous variants in the glucocerebrosidase (GBA1) gene are the most
common genetic risk factor for Parkinson's Disease (PD). GBA1-PD patients exhibit earlier …

[HTML][HTML] Surgicogenomics: The Role of Genetics in Deep Brain Stimulation in Parkinson's Disease Patients

K Kalinderi, V Papaliagkas, L Fidani - Brain Sciences, 2024 - mdpi.com
Parkinson's disease (PD) is the second-most common neurodegenerative disease, affecting
1% of people aged over 60. Currently, there is only symptomatic relief for PD patients, with …

[HTML][HTML] Multiomics approach discloses lipids and metabolites profiles associated to Parkinson's disease stages and applied therapies

F Carrillo, NP Palomba, M Ghirimoldi, C Dido… - Neurobiology of …, 2024 - Elsevier
Profiling circulating lipids and metabolites in Parkinson's disease (PD) patients could be
useful not only to highlight new pathways affected in PD condition but also to identify …

Advanced therapies in Parkinson's disease: an individualized approach to their indication

N Schröter, BEA Sajonz, WH Jost, M Rijntjes… - Journal of Neural …, 2024 - Springer
Device aided therapies (DAT) comprising the intrajejunal administration of
levodopa/carbidopa intestinal gel (LCIG) and levodopa/carbidopa/entacapone intestinal gel …

New insights from a Malaysian real-world deep brain stimulation cohort

AMF Dy Closas, AH Tan, YW Tay, JW Hor… - Journal of Parkinson's … - journals.sagepub.com
Background The availability of deep brain stimulation (DBS), a highly efficacious treatment
for several movement disorders, remains low in developing countries, with scarce data …

[HTML][HTML] Longitudinal Neuropsychological Assessment of Symptomatic Edema after Subthalamic Nucleus Deep Brain Stimulation Surgery: A Case Series Study

S De Ieso, G Di Rauso, F Cavallieri, D Beltrami… - Neurology …, 2023 - mdpi.com
Severe non-infectious or non-haemorrhagic brain edema surrounding the electrode
represents a rare complication of subthalamic nucleus deep brain stimulation (STN-DBS) …

Clinical Neurophysiology in the treatment of movement disorders: IFCN Handbook chapter

JP Lefaucheur, E Moro, Y Shirota, Y Ugawa… - Clinical …, 2024 - Elsevier
In this review, different aspects of the use of clinical neurophysiology techniques for the
treatment of movement disorders are addressed. First of all, these techniques can be used to …

A benign course of Parkinson's disease associated with different mutations in the glucocerebrosidase gene–A case series

ME Cohen, Y Shechter, R Eichel, G Yahalom - Parkinsonism & Related …, 2024 - Elsevier
Background Subjects carrying mutations in the GBA gene, whether in one or two alleles
pose a risk to develop Parkinson's disease (PD). This type of GBA-related PD has usually a …