Mov Disord Clin Pract
August 2025
Background: Dyskinesia is a debilitating complication of dopaminergic therapy in advanced Parkinson's disease.
Objectives: To evaluate the effect of levodopa-carbidopa intestinal gel (LCIG) on dyskinesia burden.
Methods: This is a post hoc analysis of the retrospective, observational COmedication Study assessing Mono- and cOmbination therapy with levodopa-carbidopa inteStinal gel (COSMOS; NCT03362879).
Dementia syndromes involve cognitive but also early motor impairment. Finger tapping is a widely used motor assessment tool and Quantitative parameters may provide insights into the motor-cognitive association. Paratonia is another, frequently observed motor manifestation of dementia.
View Article and Find Full Text PDF: The introduction of dopamine transporter scan (DaTscan) in clinical diagnostics has revolutionized the way clinicians approach movement disorders, offering valuable insights into presynaptic striatal dopaminergic deficits and revealing subjacent neurodegeneration. The aim of our study was to evaluate the impact of DaTscan on diagnostic decisions regarding movement disorders, particularly Parkinson's disease (PD) and atypical parkinsonian syndromes, under real-world circumstances in Greece. : We retrospectively analyzed data from 360 patients who underwent a DaTscan examination between 2018 and 2023 at a tertiary hospital in Greece, including referrals from both movement disorder specialists and general neurologists, either hospital-based or in private practice.
View Article and Find Full Text PDFHypomimia is a prominent, levodopa-responsive symptom in Parkinson's disease (PD). In our study, we aimed to distinguish ON and OFF dopaminergic medication state in a cohort of PD patients, analyzing their facial videos with a unique, interpretable Dual Stream Transformer model. Our approach integrated two streams of data: facial frame features and optical flow, processed through a transformer-based architecture.
View Article and Find Full Text PDFJ Mov Disord
January 2025
: The genetic underpinnings of Parkinson's disease (PD) and parkinsonism have drawn increasing attention in recent years. Mutations in the Factor-Induced Gene 4 ( have been implicated in various neurological disorders, including Charcot-Marie-Tooth disease type 4J (CMT4J), amyotrophic lateral sclerosis (ALS), and Yunis-Varón syndrome. This review aims to explore the association between mutations and parkinsonism, with a specific focus on the rare missense mutation p.
View Article and Find Full Text PDFSchizophrenia is a chronic psychotic disorder comprising positive symptoms, negative symptoms, and cognitive deficits. Negative symptoms are associated with stigma, worse functional outcomes, and a significant deterioration in quality of life. Clinical diagnosis is challenging despite its significance, and current treatments offer little improvement in the burden of negative symptoms.
View Article and Find Full Text PDFThe human brain is characterized by the upregulation of synaptic, mainly glutamatergic, transmission, but its evolutionary origin(s) remain elusive. Here we approached this fundamental question by studying mice transgenic (Tg) for , a human gene involved in glutamate metabolism that emerged in the hominoid and evolved concomitantly with brain expansion. We demonstrate that Tg mice express the human enzyme in hippocampal astrocytes and CA1-CA3 pyramidal neurons.
View Article and Find Full Text PDFAnnu Int Conf IEEE Eng Med Biol Soc
July 2023
This is the largest study on Radiomics analysis looking into the impact of Deep Brain Stimulation on Non-Motor Symptoms (NMS) of Parkinson's disease. Preoperative brain white matter radiomics of 120 patients integrated with clinical variables were used to predict the DBS effect on NMS after 1 year from the surgery. Patients were classified "suboptimal" vs "good" based on a 10% or more improvement in NMS score.
View Article and Find Full Text PDFBackground And Objectives: Our goal was to study hereditary transthyretin-related amyloidosis (hATTR) in Crete, Greece.
Methods: We aimed at ascertaining all hATTR cases in Crete, an island of 0.62 million people.
Mutations in the gene encoding amyloid precursor protein (APP) cause autosomal dominant inherited Alzheimer's disease (AD). We present a case of a 68-year-old female who presented with epileptic seizures, neuropsychiatric symptoms and progressive memory decline and was found to carry a novel APP variant, c.2062T>G pLeu688Val.
View Article and Find Full Text PDFAnn Clin Transl Neurol
October 2021
Whole exome sequencing and linkage analysis were performed in a three generational pedigree of Greek origin with a broad phenotypic spectrum spanning from Parkinson's disease and Parkinson's disease dementia to dementia of mixed type (Alzheimer disease and vascular dementia). We identified a novel heterozygous c.G1135T (p.
View Article and Find Full Text PDFBackground: Deep brain stimulation (DBS), levodopa-carbidopa intestinal gel (LCIG) and subcutaneous apomorphine infusion are device-aided therapies (DATs) for advanced Parkinson's disease (PD). We present a case series from the Cretan PD Registry who required 2 DATs for optimal management along with a systematic review of similar studies.
Cases: From 2009 to 2020, we retrospectively studied all PD patients who were simultaneously treated with 2 DATs.
Background: There are limited data regarding the effectiveness of levodopa-carbidopa intestinal gel (LCIG) for dyskinesia.
Objective: Compare the effectiveness of LCIG versus oral optimized medical treatment (OMT) for dyskinesia in patients with advanced Parkinson's disease (PD) using the Unified Dyskinesia Rating Scale (UDysRS).
Methods: This phase 3b, open-label, multicenter, 12-week, interventional study (NCT02799381) randomized 63 LCIG naïve patients with advanced PD (UDysRS ≥30) to LCIG (N = 30) or OMT (N = 33) treatment.
Parkinsonism Relat Disord
April 2021
Background: Percutaneous endoscopic gastrostomy (PEG) is required for Levodopa/Carbidopa Intestinal Gel (LCIG) delivery in patients with advanced Parkinson's disease (PD) as well as for enteral feeding in a variety of neurological disorders. Buried Bumper Syndrome (BBS) is a serious complication of PEG. The frequency of BBS in patients receiving LCIG treatment has never been reported.
View Article and Find Full Text PDFPurpose: The aim of the study is to evaluate the impact of myocardial I-metaiodobenzylguanidine (MIBG) in the diagnosis, clinical management, and differential diagnosis of Parkinson disease (PD) and non-PD parkinsonism.
Methods: The study enrolled 41 patients with parkinsonism. An initial diagnosis was reached after thorough clinical and imaging evaluation.
Glutamate dehydrogenase 1 (GDH1) contributes to glucose-stimulated insulin secretion in murine β-cells, but not to basic insulin release. The implications of these findings for human biology are unclear as humans have two GDH-specific enzymes: hGDH1 (GLUD1-encoded) and hGDH2 (GLUD2-encoded), a novel enzyme that is highly activated by ADP and L-leucine. Here we studied in vivo glucose homeostasis in transgenic (Tg) mice generated by inserting the GLUD2 gene and its putative regulatory elements into their genome.
View Article and Find Full Text PDFHuman evolution is characterized by brain expansion and up-regulation of genes involved in energy metabolism and synaptic transmission, including the glutamate signaling pathway. Glutamate is the excitatory transmitter of neural circuits sub-serving cognitive functions, with glutamate-modulation of synaptic plasticity being central to learning and memory. GLUD2 is a novel positively-selected human gene involved in glutamatergic transmission and energy metabolism that underwent rapid evolutionary adaptation concomitantly with prefrontal cortex enlargement.
View Article and Find Full Text PDFGlutamate dehydrogenase (GDH) is a hexameric enzyme that catalyzes the reversible conversion of glutamate to α-ketoglutarate and ammonia while reducing NAD(P)⁺ to NAD(P)H. It is found in all living organisms serving both catabolic and anabolic reactions. In mammalian tissues, oxidative deamination of glutamate via GDH generates α-ketoglutarate, which is metabolized by the Krebs cycle, leading to the synthesis of ATP.
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