Cognitive decline and depressive symptoms: early non-motor presentations of parkinsonism among Egyptian Gaucher patients

Tantawy, Azza Abdel Gawad; Adly, Amira Abdel Moneam; Abdeen, Mai SeifElDin; Salah, Nouran Yousef

doi:10.1007/s10048-020-00607-4

Cited by 9 publications

(4 citation statements)

References 41 publications

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“…A recent cross‐sectional assessment of a cohort of 24 children and young adult patients with GD (average age 15.9 years) described them as “preparkinsonian” and suggested that 12 of the 16 patients with GD3 had parkinsonism 10 . However, although this cohort indeed has interesting manifestations, the use of the Unified Parkinson Disease Rating Scale in individuals without a clinical diagnosis of PD is not validated.…”

Section: Discussionmentioning

confidence: 99%

Parkinsonism in Patients with Neuronopathic (Type 3) Gaucher Disease: A Case Series

Ryan

Amato

MacKenzie

et al. 2020

Movement Disord Clin Pract

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Background Background: The link between Parkinson's disease (PD), the second most common neurodegenerative disorder, and nonneuronopathic Gaucher disease (GD) is well established. Currently, PD is primarily associated with nonneuronopathic GD; however, with currently available treatments, patients with chronic neuronopathic GD, who historically had a shortened life span, are now living well into their 50s and beyond. Cases Cases: We highlight 4 patients with chronic neuronopathic GD with parkinsonian features, describing their GD genotype and phenotype as well as the presentation and progression of their parkinsonism. Symptoms presented in their fourth or fifth decade of life, and include unilateral bradykinesia and/or tremor. Of the patients, 3 had cognitive impairment. The fourth patient has not shown cognitive decline 6 years after PD onset. Conclusion Conclusion: This small series highlights that PD is not exclusively associated with nonneuronopathic GD and that as the chronic neuronopathic GD population ages, the clinical spectrum and heterogeneity of neurological manifestations may include parkinsonism.

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Section: Discussionmentioning

confidence: 99%

Parkinsonism in Patients with Neuronopathic (Type 3) Gaucher Disease: A Case Series

Ryan

Amato

MacKenzie

et al. 2020

Movement Disord Clin Pract

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“…46 Furthermore, GBA mutations seem to have an important role in cognitive decline in PD. [48][49][50] While these references suggest that GBA mutations are more commonly associated with cognitive decline they do not really support them being the primary predictor of cognitive decline. Thorough investigations have identified that GBA mutations affect lysosome activity and lead to alpha-synuclein accumulation.…”

Section: Genetics Of Pd and Gba (Glucocerebrosidase A) Polymorphisms ...mentioning

confidence: 99%

“…Although it was initially estimated that in PD the odds ratio for a mutation in the GBA gene was greater than five, it has been currently revisited and emphasized that between 7% and 12% of patients suffering from PD carry a GBA mutation 46 . Furthermore, GBA mutations seem to have an important role in cognitive decline in PD 48–50 . While these references suggest that GBA mutations are more commonly associated with cognitive decline they do not really support them being the primary predictor of cognitive decline.…”

Section: Genetics Of Pd and Gba (Glucocerebrosidase A) Polymorphisms ...mentioning

confidence: 99%

Epigallocatechin gallate for Parkinson's disease

Sergi

2022

Clin Exp Pharma Physio

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In the last couple of decades, we have experienced increased use of nutraceuticals worldwide with a demand for organic foods, which has been elevated to an extent probably unmatched with other periods of our civilization. One of the nutraceuticals that gained attention is epigallocatechin gallate (EGCG), a polyphenol in green tea. It has been suggested that diseases of the central nervous system can benefit from consuming some antioxidants, despite current results showing little evidence for their use in preventing and treating these diseases. ECGC may be beneficial in delaying the neurodegeneration of the substantia nigra regardless of the origin of Parkinson's disease (PD). This review covers the effect of EGCG on vitro and animal models of PD, the potential mechanisms of neuroprotection involved and summaries recent clinical trials in human PD. This review also aims to provide an investigative analysis of the current knowledge in this field and to identify putative crucial issues. Environmental factors such as dietary habits, drug use and social interaction are all factors that influence the evolution of neurodegenerative diseases. Therefore, the use of nutraceuticals requires further investigation.

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“…Numerous studies have investigated patients with GD using PROMs or qualitative methods. Self-reported symptoms [ 13 ] of GD patients (e.g., fatigue, pain, bleeding swelling, and anemia) have a serious impact on patients’ QoL [ 14 , 15 ], mental health [ 6 , 16 ], social functioning [ 17 ], and cognitive abilities [ 18 ]. Some studies have also illustrated the effects of ERT and other interventions on patients’ QoL [ 19 , 20 ].…”

Section: Introductionmentioning

confidence: 99%

Patient-reported outcomes in Gaucher’s disease: a systematic review

Feng,

Gao,

Shi

et al. 2023

Orphanet J Rare Dis

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Background Gaucher’s disease (GD), a rare condition, represents the most common lysosomal storage disorder. The cardinal manifestations of GD are fatigue, hepatosplenomegaly, anemia, thrombocytopenia, bone pain, and bone infarction, thereby culminating in a marked deterioration of patients’ quality of life (QoL). Patient-reported outcomes (PROs) offer valuable insights into the impact of GD on patients’ QoL and symptoms. This systematic review aimed to identify and analyze PROs and outcome measures in GD patients. Methods We systematically searched PubMed, Web of Science Core Collections, EMBASE, SCOPUS, Cochrane Library, PsycINFO, Wan Fang Data, China National Knowledge Infrastructure (CNKI), and the Chinese Biomedical Literature Database (CBM). The methodological quality of the included studies was assessed using a mixed methods assessment tool. Results A total of 33 studies were identified, encompassing 24 distinct patient-reported outcome instruments, with the most frequently employed instrument being the SF-36. The study designs included eighteen cross-sectional studies, seven pre- and post-intervention investigations, three randomized controlled trials, two cohort studies, two qualitative inquiries, and one validation study. These studies explored diverse domains such as the QoL and cardinal symptoms (e.g., fatigue, pain, bleeding, cognition, social relationships, and psychological functioning) in patients with GD. Furthermore, significant attention was directed towards the appraisal of the therapeutic benefits of various interventions in patients with GD. A novel GD-specific instrument has also been developed, which has two applied versions: a 24-item variant for routine clinical monitoring and a 17-item form for use in clinical trials. Conclusion PROs have garnered increased attention and concern in the realm of GD. Despite this progress, it is noteworthy that the instruments used to measure PROs in GD are still predominantly generic instruments. While researchers have endeavored to develop and validate a disease-specific instrument, currently the use of this instrument is limited. Owing to several challenges, including the small number of patients, heterogeneity of the disease, and cross-regional discrepancies in study findings, GD poses substantial difficulties in the measurement of QoL and development of instruments. Consequently, patients with GD require more dependable measurement instruments that accurately reflect their QoL, efficacy of treatment, and facilitate healthcare decision-making.

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Cognitive decline and depressive symptoms: early non-motor presentations of parkinsonism among Egyptian Gaucher patients

Cited by 9 publications

References 41 publications

Parkinsonism in Patients with Neuronopathic (Type 3) Gaucher Disease: A Case Series

Parkinsonism in Patients with Neuronopathic (Type 3) Gaucher Disease: A Case Series

Epigallocatechin gallate for Parkinson's disease

Patient-reported outcomes in Gaucher’s disease: a systematic review

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