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Povzetek: Background: Dementia with Lewy bodies (DLB) is the second most common neurodegenerative dementia, yet it remains under-recognised and misdiagnosed, which delays treatment, causes inaccurate prognosis and limits research opportunities. Imaging with 2-[18F]fluoro-2-deoxy-D-glucose positron emission tomography (FDG PET) is a supportive DLB biomarker. We evaluated a multivariate, quantifiable metabolic network biomarker, termed DLB-related pattern (DLBRP), for its further clinical translation across centres and disease stages. Methods: We analysed demographic, clinical and FDG PET imaging data of 1180 participants from 14 tertiary centres and two multicentre datasets. We included 379 DLB, 28 mild cognitive impairment-LB (MCI-LB), 195 dementia due to Alzheimer's disease (ADD), 172 MCI-AD without α-synuclein co-pathology (MCI-AD-S-), and 73 MCI-AD with α-synuclein co-pathology (S+) patients, along with a comparative group of 333 normal controls (NCs). From the scans, we calculated the expression of DLBRP, AD-related pattern (ADRP) and Parkinson's disease-related pattern (PDRP) and compared them across groups. DLBRP scores were correlated with clinical measurements. Results: Across independent cohorts, DLBRP robustly distinguished DLB from NCs (sensitivity >89%, specificity >90%), and scores correlated with Unified Parkinson's Disease Rating Scale Part III and independently predicted Mini-Mental State Examination. DLBRP was elevated already in MCI-LB. In a small longitudinal dataset, we observed steady increases in DLBRP expression with scores exceeding the diagnostic threshold prior to dementia onset. DLBRP and PDRP discriminated DLB from ADD (sensitivity, 74%-90%; specificity, 80%). In MCI-AD groups, ADRP was expressed, whereas DLBRP and PDRP were increased only in MCI-AD-S+, although comparatively less than in MCI-LB. Conclusions: This study demonstrates the value of DLBRP in diagnosing prodromal and manifest DLB and distinguishing them from their AD counterparts. While overlap between patterns may reflect actual co-pathology, this possibility cannot be accepted without thorough pathological confirmation. The current findings support the use of DLBRP in patient evaluation and in future trial design.
Ključne besede: Alzheimer's disease, Lewy body dementia, FDG PET, functional imaging, mild cognitive impairment
Objavljeno v DiRROS: 19.03.2026; Ogledov: 261; Prenosov: 160
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Povzetek: Background: Gilles de la Tourette syndrome is a neurobehavioral disorder that typically begins in childhood, subsides during puberty, and may reappear in adolescence. Treatment is primarily conservative, involving psychological and pharmacological therapy. Patients who do not respond to conservative therapy may be treated with deep brain stimulation, although this remains an experimental treatment. Methods: In this two-case report we present the first two cases of patients with Gilles de la Tourette syndrome in Slovenia treated with deep brain stimulation of the anteromedial globus pallidus internus. Results: Over an 18-month follow-up period, we observed an improvement in both cases. In the first case, the Yale Global Tic Severity Scale score decreased from 71 (17 for motor tics, 14 for phonic tics, and 40 on the impairment scale) to 44 points (12 motor, 12 phonic, and 20 impairment). In the second case, the score decreased from 72 (16 motor, 16 phonic, and 40 impairment) to 38 points (8 motor, 10 phonic, and 20 impairment). Conclusions: Deep brain stimulation could be a promising treatment for this disorder. However, further research is needed to determine the most suitable patients and targets.
Ključne besede: deep brain stimulation, Gilles de la Tourette syndrome, anteromedial globus pallidus internus
Objavljeno v DiRROS: 27.01.2026; Ogledov: 376; Prenosov: 236
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Povzetek: Introduction. In the advanced stages of Parkinson’s disease (PD), when standard drug adjustments fail to sufficiently improve patients’ quality of life, device-aided therapies (DATs) such as deep brain stimulation (DBS), continuous subcutaneous apomorphine infusion (CSAI), levodopa-carbidopa intestinal gel infusion (LCIG), levodopa-carbidopa-entacapone intestinal gel infusion, or continuous subcutaneous foslevodoa-foscarbidopa infusion are beneficial in the long run. However, sometimes patients need to switch or combine DATs due to either adverse events or loss of efficacy. Aim of study. The aim of this article was to summarise the existing data on the long-term efficacy and adverse events of DATs, and to review the data on the rationale and efficacy for switching or combining DATs in advanced PD. State of the art. A total of 50 studies on the long-term efficacy of DBS (N = 28), LCIG (N = 12), CSAI (N = 10) and 13 studies on switching and combining DATs were included in this review. Although the DATs show a favourable long-term effect on the main motor and non-motor symptoms of PD they all feature specific adverse events that need to be considered when deciding which DAT to offer to a particular patient. Occasionally, switching or combining DATs is recommended, e.g. if the first DAT shows inadequate symptom control, or due to adverse events. The choice of the second DAT depends above all on the main problems of the first DAT being correctly recognised. Clinical implications. DATs are a safe and long-term effective option for the treatment of advanced PD. Switching and/or combining DATs is recommended for patients in whom the first treatment option is not optimal. Future directions. Future studies are warranted to address the unresolved issues related to long-term efficacy, side effect profile and switching and combination of DATs in multicentric studies and using advanced analytical approaches such as machine learning.
Ključne besede: advanced Parkinson’s Disease, device-aided therapies, long-term effect of device-aided therapies
Objavljeno v DiRROS: 02.12.2025; Ogledov: 633; Prenosov: 220
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