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

Functional connectivity in Parkinson’s disease candidates for deep brain stimulation DOI Creative Commons
Luigi Albano, Federica Agosta, Silvia Basaia

et al.

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

Published: Jan. 10, 2022

This study aimed to identify functional neuroimaging patterns anticipating the clinical indication for deep brain stimulation (DBS) in patients with Parkinson's disease (PD). A cohort of prospectively recruited PD underwent neurological evaluations and resting-state MRI (RS-fMRI) at baseline annually 4 years. Patients were divided into two groups: 19 eligible DBS over follow-up 41 who did not meet criteria undergo DBS. selected as candidates surgery this stage. Sixty age- sex-matched healthy controls performed evaluations. Graph analysis connectomics assessed global local topological network properties regional connectivity each time point. At baseline, showed a higher mean nodal strength, efficiency, clustering coefficient occipital areas relative The hyperconnectivity pattern was confirmed by analysis. decreased between basal ganglia sensorimotor/frontal networks found compared surgery. In longitudinal analysis, patient candidate progressively organization connectivity, mainly posterior networks, increased non-candidates RS-fMRI may support could be useful predicting which would earlier stages PD.

Language: Английский

Citations

18
Decreased brain volume may be associated with the occurrence of peri-lead edema in Parkinson's disease patients with deep brain stimulation DOI
Marina Raguž,

Petar Marčinković,

Hana Chudy

et al.

Parkinsonism & Related Disorders, Journal Year: 2024, Volume and Issue: 121, P. 106030 - 106030

Published: Feb. 9, 2024

Language: Английский

Citations

3
Stage-dependent differential impact of network communication on cognitive function across the continuum of cognitive decline in Parkinson's disease DOI Creative Commons
Xiaolu Li,

Huize Pang,

Shuting Bu

et al.

Neurobiology of Disease, Journal Year: 2024, Volume and Issue: 199, P. 106578 - 106578

Published: June 25, 2024

Our objective was to explore the patterns of resting-state network (RSN) connectivity alterations and investigate how influences individual-level connections on cognition varied across clinical stages without assuming a constant relationship. 108 PD patients with continuum cognitive decline (PD-NC = 46, PD-MCI 43, PDD 19) 34 healthy controls (HCs) underwent functional MRI neuropsychological tests. Independent component analysis (ICA) graph theory analyses (GTA) were employed RSN connection changes. Additionally, stage-dependent differential impact communication performance examined using sparse varying coefficient modeling. Compared HCs, dorsal attention (DAN) sensorimotor (dSMN) central networks decreased in PD-NC stage, while lateral visual (LVN) emerged as dementia. cerebellum (CBN) increased stages. GTA demonstrated nodal metrics for DAN dSMN, coupled an increase CBN. Moreover, degree centrality (DC) values dSMN exhibited decline. findings suggest that progression impairment, LVN gradually transitions into core node reduced connectivity, enhancement CBN diminishes. Furthermore, non-linear relationship between DC RSNs indicates potential tailored interventions targeting specific

Language: Английский

Citations

3
Hippocampus and olfactory impairment in Parkinson disease: a comparative exploratory combined volumetric/functional MRI study DOI
Michele Porcu,

Luigi Cocco,

Francesco Marrosu

et al.

Neuroradiology, Journal Year: 2024, Volume and Issue: 66(11), P. 1941 - 1953

Published: July 24, 2024

Language: Английский

Citations

3
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

Citations

18