Adult-onset mitochondrial movement disorders: a national picture from the Italian Network DOI Creative Commons
Vincenzo Montano, Daniele Orsucci, Valério Carelli

et al.

Journal of Neurology, Journal Year: 2021, Volume and Issue: 269(3), P. 1413 - 1421

Published: July 14, 2021

Both prevalence and clinical features of the various movement disorders in adults with primary mitochondrial diseases are unknown.Based on database "Nation-wide Italian Collaborative Network Mitochondrial Diseases", we reviewed clinical, genetic, neuroimaging neurophysiological data adult patients (n = 764) where ataxia, myoclonus or other were part phenotype.Ataxia, present 105/764 (13.7%), onset coinciding preceding diagnosis disease 49/105 (46.7%). Ataxia parkinsonism most represented, an overall at last follow-up 59.1% 30.5%, respectively. Hyperkinetic reported 15.3% follow-up, being less common disorders. The pathogenic m.8344A > G POLG variants always associated a disorder, while LHON mtDNA single deletions more commonly found subjects who did not disorder. cortical and/or cerebellar atrophy, white matter hyperintensities, basal ganglia abnormalities nigro-striatal degeneration. Almost 70% responded to dopaminergic therapy, mainly levodopa, 50% successfully treated levetiracetam.Movement disorders, ataxia parkinsonism, important findings diseases. This study underlies importance looking for etiology diagnostic flowchart disorder may help direct genetic screening daily practice.

Language: Английский

Aerobic Exercise Alters Brain Function and Structure in Parkinson's Disease: A Randomized Controlled Trial DOI

Martin E. Johansson,

Ian Cameron, Nicolien M. van der Kolk

et al.

Annals of Neurology, Journal Year: 2021, Volume and Issue: 91(2), P. 203 - 216

Published: Dec. 24, 2021

Objective Randomized clinical trials have shown that aerobic exercise attenuates motor symptom progression in Parkinson's disease, but the underlying neural mechanisms are unclear. Here, we investigated how influences disease‐related functional and structural changes corticostriatal sensorimotor network, which is involved emergence of deficits disease. Additionally, explored effects on tissue integrity substantia nigra, behavioral cerebral indices cognitive control. Methods The Park‐in‐Shape trial a single‐center, double‐blind randomized controlled 130 disease patients who were randomly assigned (1:1 ratio) to (stationary home trainer) or stretching (active control) interventions (duration = 6 months). An unselected subset from this (exercise, n 25; stretching, 31) underwent resting‐state magnetic resonance imaging (MRI), an oculomotor control task (pro‐ antisaccades), at baseline 6‐month follow‐up. Results Aerobic exercise, not led increased connectivity anterior putamen with cortex relative posterior putamen. Behaviorally, also improved Furthermore, right frontoparietal proportionally fitness improvements, it reduced global brain atrophy. Interpretation MRI, clinical, results converge toward conclusion stabilizes network enhances performance. ANN NEUROL 2022;91:203–216

Language: Английский

Citations

180

Action Observation and Motor Imagery Improve Dual Task in Parkinson's Disease: A Clinical/fMRI Study DOI
Elisabetta Sarasso, Federica Agosta, Noemi Piramide

et al.

Movement Disorders, Journal Year: 2021, Volume and Issue: 36(11), P. 2569 - 2582

Published: July 19, 2021

ABSTRACT Background Action observation training and motor imagery may improve learning in Parkinson's disease (PD). Objectives The objectives of this study were to assess mobility balance (performing dual tasks) brain functional reorganization following 6 weeks action associated with dual‐task gait/balance exercises PD patients postural instability gait disorders relative alone. Methods Twenty‐five PD–postural disorder randomized into 2 groups: the DUAL‐TASK+AOT‐MI group performed a 6‐week consisting training–motor combined practicing observed‐imagined exercises; DUAL‐TASK same watching landscape videos. Exercises increasingly difficult include task. At baseline at weeks, underwent: mobility, gait, evaluations (also repeated months after training), cognitive assessment, MRI, including tasks. Results Dual‐task enhanced during both single‐ conditions, executive functions disorders, long‐lasting effect 14 weeks. When preceded by imagery, showed greater improvement velocity without task, particularly turning phase. After training, reduced recruitment frontal areas increased activity cerebellum functional‐MRI correlating balance/turning improvements, respectively. supplementary area temporo‐parietal task decreased cerebellar faster velocity. Functional MRI results not corrected for multiple comparisons should be interpreted carefully. Conclusions Adding promotes specific involved control executive‐attentive abilities more effects on disorders. © 2021 International Parkinson Movement Disorder Society

Language: Английский

Citations

58

Imaging the Limbic System in Parkinson’s Disease—A Review of Limbic Pathology and Clinical Symptoms DOI Creative Commons
Magdalena Banwinkler, Hendrik Theis, Stéphane Prange

et al.

Brain Sciences, Journal Year: 2022, Volume and Issue: 12(9), P. 1248 - 1248

Published: Sept. 15, 2022

The limbic system describes a complex of brain structures central for memory, learning, as well goal directed and emotional behavior. In addition to pathological studies, recent findings using in vivo structural functional imaging the pinpoint vulnerability neurodegeneration Parkinson’s disease (PD) throughout course. Accordingly, dysfunction is critically related symptom which characterizes PD, including neuropsychiatric, vegetative, motor symptoms, their heterogeneity patients with PD. aim this systematic review was put spotlight on neuroimaging PD give an overview most important affected by disease, function, alterations, corresponding clinical manifestations. PubMed searched order identify studies that investigate help methods. First, neuropathological changes symptoms each region are reviewed, and, finally, network integration within pathology discussed.

Language: Английский

Citations

42

Clinical severity in Parkinson’s disease is determined by decline in cortical compensation DOI Creative Commons

Martin E. Johansson,

Ivan Toni, Roy P. C. Kessels

et al.

Brain, Journal Year: 2023, Volume and Issue: 147(3), P. 871 - 886

Published: Sept. 27, 2023

Abstract Dopaminergic dysfunction in the basal ganglia, particularly posterior putamen, is often viewed as primary pathological mechanism behind motor slowing (i.e. bradykinesia) Parkinson’s disease. However, striatal dopamine loss fails to account for interindividual differences phenotype and rate of decline, implying that expression symptoms depends on additional mechanisms, some which may be compensatory nature. Building observations increased motor-related activity parieto-premotor cortex Parkinson patients, we tested hypothesis clinical severity are determined by cortical mechanisms not just ganglia dysfunction. Using functional MRI, measured variability motor- selection-related brain during a visuomotor task 353 patients with disease (≤5 years duration) 60 healthy controls. In this task, manipulated action selection demand varying number possible actions individuals could choose from. Clinical was characterized two ways. First, were categorized into three previously validated, discrete subtypes hypothesized reflect distinct routes α-synuclein propagation: diffuse-malignant (n = 42), intermediate 128) or mild motor-predominant 150). Second, used scores bradykinesia cognitive performance across entire sample continuous measures. Patients showed (longer response times) reduced compared did differ between associated scores. This indicates limited role shaping severity. Consistent our hypothesis, observed enhanced mild-motor predominant subtype, both subtype Furthermore, related lower better performance, points role. We conclude compensation, rather than dysfunction, shapes symptom Future interventions focus maintaining enhancing only attempting normalize

Language: Английский

Citations

27

Neuroimaging and fluid biomarkers in Parkinson’s disease in an era of targeted interventions DOI Creative Commons
Angeliki Zarkali, George E. Thomas, Henrik Zetterberg

et al.

Nature Communications, Journal Year: 2024, Volume and Issue: 15(1)

Published: July 5, 2024

Abstract A major challenge in Parkinson’s disease is the variability symptoms and rates of progression, underpinned by heterogeneity pathological processes. Biomarkers are urgently needed for accurate diagnosis, patient stratification, monitoring progression precise treatment. These were previously lacking, but recently, novel imaging fluid biomarkers have been developed. Here, we consider new approaches showing sensitivity to brain tissue composition, examine specificity processes, including seed amplification assays extracellular vesicles. We reflect on these context biological staging systems, emerging techniques currently development.

Language: Английский

Citations

15

An Unusual Presentation of Peri‐Lead Edema Following Deep Brain Stimulation for Parkinson's Disease: A Case Report and Review of the Literature DOI Creative Commons
Victoria Witzig, Rastislav Pjontek,

Anke Höllig

et al.

Clinical Case Reports, Journal Year: 2025, Volume and Issue: 13(3)

Published: March 1, 2025

Peri-lead edema (PLE) after deep brain stimulation may mimic infection on magnetic resonance imaging (MRI). We present a case of symptomatic PLE with annular contrast enhancement MRI suggestive an infectious cause. show that careful clinical evaluation and laboratory testing, in addition to neuroimaging, are essential guide treatment avoid unnecessary interventions cases favorable spontaneous course.

Language: Английский

Citations

1

Basal ganglia atrophy–associated causal structural network degeneration in Parkinson's disease DOI
Rong Li, Ting Zou, Xuyang Wang

et al.

Human Brain Mapping, Journal Year: 2021, Volume and Issue: 43(3), P. 1145 - 1156

Published: Nov. 18, 2021

Parkinson's disease (PD) is a progressive neurodegenerative characterized by both motor and non-motor symptoms. A convergent pathophysiological hallmark of PD an early selective vulnerability within the basal ganglia circuit. However, causal interactions between atrophy structural network alterations in remain unaddressed. Here, we adopted voxel-based morphometry method to measure gray matter (GM) volume for each participant (n = 84 patients n 70 matched healthy controls). Patients were first divided into three stages according Hoehn Yahr (H&Y) Part III Unified Disease Rating Scale scores respectively analyze stage-specific GM patterns. Then, modulation caudate over other brain structures was evaluated using whole-brain voxel-wise region-of-interest-wise covariance approaches. We found that progressively expands from angular gyrus, temporal areas, eventually spreads through subcortical-cortical networks as progresses. Notably, identified shared caudate-associated degeneration including ganglia, thalamus, cerebellum, sensorimotor cortex, cortical association areas with factors. These findings suggest may play pivotal role circuits at level. Our work provides evidence novel mechanism underlies pathology have potential clinical applications development predictors onset progress.

Language: Английский

Citations

39

Functional Connectomics and Disease Progression in Drug‐Naïve Parkinson's Disease Patients DOI
Rosa De Micco, Federica Agosta, Silvia Basaia

et al.

Movement Disorders, Journal Year: 2021, Volume and Issue: 36(7), P. 1603 - 1616

Published: Feb. 27, 2021

ABSTRACT Background Functional brain connectivity alterations may be detectable even before the occurrence of atrophy, indicating their potential as early markers pathological processes. Objective We aimed to determine whole‐brain network topologic organization functional connectome in a large cohort drug‐naïve Parkinson's disease (PD) patients using resting‐state magnetic resonance imaging and explore whether baseline changes predict clinical progression. Methods One hundred forty‐seven drug‐naïve, cognitively unimpaired PD were enrolled study at compared 38 age‐ gender‐matched controls. Non‐hierarchical cluster analysis motor non‐motor data was applied stratify into two subtypes: 77 early/mild 70 early/severe. Graph theory connectomics used assess global local topological properties regional baseline. Stepwise multivariate regression investigated predictors progression over 2 years. Results At baseline, widespread abnormalities detected basal ganglia, sensorimotor, frontal, occipital networks Decreased involving mostly striato‐frontal, temporal, occipital, limbic connections differentiated from early/severe patients. Connectivity found independent cognitive 2‐year follow‐up. Conclusions Our findings revealed that reorganization occurs underlies crucial involvement striatal projections. Connectomic measures helpful identify specific patient subtype, characterized by severe burden well abnormalities. © 2021 International Parkinson Movement Disorder Society

Language: Английский

Citations

38

Virtual reality balance training to improve balance and mobility in Parkinson’s disease: a systematic review and meta-analysis DOI
Elisabetta Sarasso, Andrea Gardoni, Andrea Tettamanti

et al.

Journal of Neurology, Journal Year: 2021, Volume and Issue: 269(4), P. 1873 - 1888

Published: Oct. 28, 2021

Language: Английский

Citations

38

Cerebro-cerebellar motor networks in clinical subtypes of Parkinson’s disease DOI Creative Commons
Silvia Basaia, Federica Agosta,

Alessandro Francia

et al.

npj Parkinson s Disease, Journal Year: 2022, Volume and Issue: 8(1)

Published: Sept. 6, 2022

Abstract Parkinson’s disease (PD) patients can be classified in tremor-dominant (TD) and postural-instability-and-gait-disorder (PIGD) motor subtypes. PIGD represents a more aggressive form of the that TD have potentiality converting into. This study investigated functional alterations within cerebro-cerebellar system PD-TD PD-PIGD using stepwise connectivity (SFC) analysis identified neuroimaging features predict to conversion. Thirty-two PD-TD, 26 60 healthy controls performed clinical/cognitive evaluations resting-state MRI (fMRI). Four-year clinical follow-up data were available for 28 patients, who 10 converters (cTD-PD) 18 non-converters (ncTD-PD) PIGD. The cerebellar seed-region was fMRI task. SFC analysis, characterizing regions connect brain areas seed at different levels link-step distances, evaluated similar divergent PD-PIGD. discriminatory power and/or distinguishing cPD-TD from ncPD-TD assessed ROC curve analysis. Compared showed decreased temporal lobe occipital lobes increased cortex ponto-medullary junction. Considering subtype-conversion characterized by cerebellum junction relative group. Combining data, curves provided highest classification identify conversion These findings provide novel insights into pathophysiology underlying PD phenotypes potential tool early characterization risk

Language: Английский

Citations

25