Case Report: A Case of a Patient with Smith–Magenis Syndrome and Early-Onset Parkinson’s Disease DOI Open Access

Tchelet Stern,

Yara Hussein, Diogo Cordeiro

et al.

International Journal of Molecular Sciences, Journal Year: 2024, Volume and Issue: 25(15), P. 8447 - 8447

Published: Aug. 2, 2024

Smith-Magenis Syndrome (SMS) is a rare genetic disorder, characterized by intellectual disability (ID), behavioral impairments, and sleep disturbances, as well multiple organ anomalies in some affected individuals. The syndrome caused deletion the chromosome band around 17p11.2, including Retinoic Acid Induced 1 (

Language: Английский

α-Synuclein reduces acetylserotonin O-methyltransferase mediated melatonin biosynthesis by microtubule-associated protein 1 light chain 3 beta-related degradation pathway DOI Open Access
Congcong Jia, Lulu Tian, Cheng Cheng

et al.

Cellular and Molecular Life Sciences, Journal Year: 2024, Volume and Issue: 81(1)

Published: Jan. 27, 2024

Language: Английский

Citations

2
Challenges and gaps in the treatment of advanced sleep phase disorder: A call for further research and understanding DOI Open Access
Dmytro I. Boiko, Oksana Mats, Anastasiia D. Shkodina

et al.

Acta Facultatis Medicae Naissensis, Journal Year: 2024, Volume and Issue: 41(1), P. 5 - 9

Published: Jan. 1, 2024

People with circadian rhythm disturbances are at an elevated risk of mental disorders, and conversely, those disorders more susceptible to the disruption. A steady cycle sleep wakefulness that is phase-shifted relative prior local solar time may be characterized by a short endogenous period. Advanced sleep-wake phase disorder (ASPD) substantial advancement phase, followed sleep-related symptoms. ASPD challenging manage, current treatment options varying in efficacy potential side effects. Further research needed identify effective elucidate underlying mechanisms ASPD. More better understand molecular metabolic changes associated aging contribute development disorder.

Language: Английский

Citations

2
The Interrelated Multifactorial Actions of Cortisol and Klotho: Potential Implications in the Pathogenesis of Parkinson’s Disease DOI Creative Commons
Nijee Luthra,

Angela Clow,

Daniel M. Corcos

et al.

Brain Sciences, Journal Year: 2022, Volume and Issue: 12(12), P. 1695 - 1695

Published: Dec. 10, 2022

The pathogenesis of Parkinson’s disease (PD) is complex, multilayered, and not fully understood, resulting in a lack effective disease-modifying treatments for this prevalent neurodegenerative condition. Symptoms PD are heterogenous, including motor impairment as well non-motor symptoms such depression, cognitive impairment, circadian disruption. Aging stress important risk factors PD, leading us to explore pathways that may either accelerate or protect against cellular aging the detrimental effects stress. Cortisol much-studied hormone can disrupt mitochondrial function increase oxidative neuroinflammation, which recognized key underlying mechanisms PD. more recently discovered klotho protein, considered general aging-suppressor, has similarly wide range actions but opposite direction cortisol: promoting while reducing inflammation. Both hormones also converge on vitamin D metabolism insulin resistance, implicated play role Interestingly, aging, associate with an cortisol decrease klotho, physical exercise certain genetic variations lead response increased klotho. Here, we review interrelated Together they impact powerful divergent go influence PD-related symptoms. Better understanding these would facilitate design interventions simultaneously multiple systems involved

Language: Английский

Citations

9
Relationship between sleep disorders and neuropsychiatric symptoms in Parkinson's disease: A narrative review DOI Open Access
Anastasiia D. Shkodina, Tymur Iengalychev, К. А. Tarianyk

et al.

Acta Facultatis Medicae Naissensis, Journal Year: 2022, Volume and Issue: 39(3), P. 259 - 274

Published: Jan. 1, 2022

Aim: The objective of this narrative review was to describe the versatile links between mental status and sleep in patients with Parkinson's disease. Methods: We searched randomized controlled studies, observational meta-analyses, systematic reviews, case reports written English PubMed during 2015 - 2021. Additionally, ensure completeness review, a second, more in-depth literature search performed using same electronic database inquiries increased specificity. Results: information on pathophysiology, epidemiology, clinical features risk factors extracted formed basis for review. Despite how widespread disorders disease are, there is no about their association neuropsychiatric symptoms, such as depression, anxiety, impulse control disorders, apathy, cognitive impairment psychosis. In we described relationships these non-motor symptoms disease, timeline occurrence, gap knowledge perspectives further research. suppose that early treatment can reduce incidence extent symptoms. Conclusion: have demonstrated multiple, multidirectional However, some them remain unexplored. be applied study possibility influencing through correction different stages

Language: Английский

Citations

8
Case Report: A Case of a Patient with Smith–Magenis Syndrome and Early-Onset Parkinson’s Disease DOI Open Access

Tchelet Stern,

Yara Hussein, Diogo Cordeiro

et al.

International Journal of Molecular Sciences, Journal Year: 2024, Volume and Issue: 25(15), P. 8447 - 8447

Published: Aug. 2, 2024

Smith-Magenis Syndrome (SMS) is a rare genetic disorder, characterized by intellectual disability (ID), behavioral impairments, and sleep disturbances, as well multiple organ anomalies in some affected individuals. The syndrome caused deletion the chromosome band around 17p11.2, including Retinoic Acid Induced 1 (

Language: Английский

Citations

1