Motor and non-motor features in Parkinson’s Disease patients carrying GBA gene mutations

Michele, G. De; Palmieri, Gianluigi Rosario; Pane, Chiara; Valente, Enza Maria; Palmieri, Ilaria; Iacovo, Carmen Diletta Paola Dello; Cuomo, Nunzia; Giglio, Augusta; Lucia, Natascia De; Fico, Tommasina; Perillo, Sandra; Michele, Giuseppe De; Rosa, Anna De

doi:10.1007/s13760-022-02165-y

Cited by 6 publications

(4 citation statements)

References 23 publications

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“…Additionally, a recent study, confirmed that non-motor symptoms and a more severe and rapidly progressive disease course are seen more frequently among GBA PD patients in comparison to iPD. A higher occurrence of diurnal sleepiness was also observed in the carriers’ group [ 10 ]. The fact that the severity of the GBA mutation would correspond to the PD phenotype was also addressed in the study of Thaler et al [ 11 ].…”

Section: Genes Involved In Pd Patients’ Sleep Disordersmentioning

confidence: 94%

The Genetic Landscape of Sleep Disorders in Parkinson’s Disease

Kalinderi,

Papaliagkas,

Fidani

2024

Diagnostics

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Parknson’s disease (PD) is the second most common neurodegenerative disease, affecting 1% of people aged over 60. PD is characterized by a wide range of motor symptoms, however the clinical spectrum of PD covers a wide range of non-motor symptoms, as well. Sleep disorders are among the most common non-motor symptoms of PD, can occur at any stage of the disease and significantly affect quality of life. These include rapid eye movement sleep behavior disorder (RBD), restless legs syndrome (RLS), excessive daytime sleepiness (EDS), insomnia, obstructive sleep apnea (OSA) and circadian rhythm disturbances. One of the main challenges in PD research is identifying individuals during the prodromal phase of the disease. Combining genetic and prodromal data may aid the early identification of individuals susceptible to PD. This review highlights current data regarding the genetic component of sleep disorders in PD patients, focusing on genes that have currently been associated with this PD co-morbidity.

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Section: Genes Involved In Pd Patients’ Sleep Disordersmentioning

confidence: 94%

The Genetic Landscape of Sleep Disorders in Parkinson’s Disease

Kalinderi,

Papaliagkas,

Fidani

2024

Diagnostics

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“…Additionally, a recent study, confirmed that non-motor symptoms and a more severe and rapidly progressive disease course are seen more frequently among GBAPD patients in comparison to iPD. A higher occurrence of diurnal sleepiness was also observed in the carriers' group [10]. The fact that the severity of the GBA mutation would correspond to the PD phenotype was also addressed in the study of Thaler et al in 2018.…”

Section: Gbamentioning

confidence: 99%

The Genetic Landscape of Sleep Disorders in Parkinson’s Disease

Kalinderi,

Papaliagkas,

Fidani

2023

Preprint

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“…GBA mutations have a negative impact on cognition, whereas LRRK2 -associated disease may have a milder cognitive phenotype, the others having a potential effect on cognitive outcome [ 107 ]. GBA-PD is associated with faster motor and cognitive decline, especially with impaired visuospatial/EFs [ 108 , 109 ], whereas the rs12411216 variant of GBA was significantly associated with PD-MCI [ 110 ]. PARK16 rs6679073 carriers were less likely to develop MCI compared to non-carriers in a 4-year follow-up study, suggesting that this variant may have a neuroprotective effect on cognitive functions [ 111 ].…”

Section: Genetic Factors Of Pd-cimentioning

confidence: 99%

Pathobiology of Cognitive Impairment in Parkinson Disease: Challenges and Outlooks

Jellinger

2023

IJMS

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Cognitive impairment (CI) is a characteristic non-motor feature of Parkinson disease (PD) that poses a severe burden on the patients and caregivers, yet relatively little is known about its pathobiology. Cognitive deficits are evident throughout the course of PD, with around 25% of subtle cognitive decline and mild CI (MCI) at the time of diagnosis and up to 83% of patients developing dementia after 20 years. The heterogeneity of cognitive phenotypes suggests that a common neuropathological process, characterized by progressive degeneration of the dopaminergic striatonigral system and of many other neuronal systems, results not only in structural deficits but also extensive changes of functional neuronal network activities and neurotransmitter dysfunctions. Modern neuroimaging studies revealed multilocular cortical and subcortical atrophies and alterations in intrinsic neuronal connectivities. The decreased functional connectivity (FC) of the default mode network (DMN) in the bilateral prefrontal cortex is affected already before the development of clinical CI and in the absence of structural changes. Longitudinal cognitive decline is associated with frontostriatal and limbic affections, white matter microlesions and changes between multiple functional neuronal networks, including thalamo-insular, frontoparietal and attention networks, the cholinergic forebrain and the noradrenergic system. Superimposed Alzheimer-related (and other concomitant) pathologies due to interactions between α-synuclein, tau-protein and β-amyloid contribute to dementia pathogenesis in both PD and dementia with Lewy bodies (DLB). To further elucidate the interaction of the pathomechanisms responsible for CI in PD, well-designed longitudinal clinico-pathological studies are warranted that are supported by fluid and sophisticated imaging biomarkers as a basis for better early diagnosis and future disease-modifying therapies.

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Motor and non-motor features in Parkinson’s Disease patients carrying GBA gene mutations

Cited by 6 publications

References 23 publications

The Genetic Landscape of Sleep Disorders in Parkinson’s Disease

The Genetic Landscape of Sleep Disorders in Parkinson’s Disease

The Genetic Landscape of Sleep Disorders in Parkinson’s Disease

Pathobiology of Cognitive Impairment in Parkinson Disease: Challenges and Outlooks

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