A53T in a parkinsonian family: a clinical update of the SNCA phenotypes

Tambasco, Nicola; Nigro, Pasquale; Romoli, Michele; Prontera, Paolo; Simoni, Simone; Calabresi, Paolo

doi:10.1007/s00702-016-1578-6

Cited by 32 publications

(33 citation statements)

References 56 publications

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“…The frequency of anxiety (Tc 3.4%, Dc 5.0%, and PMc 5.9%) and sleep disturbances (Tc 20.7%, Dc 17.3%, and PMc 10.3%), usually presenting as RBD, manifest with a similar frequency for all 3 groups (Tambasco et al, 2016). Also, 69% of Tc, 42.5% Dc, and 25% of PMc have cognitive impairment (Tambasco et al, 2016). Furthermore, psychosis is more frequent among patients with Tc (69.0%) than those with either Dc (40%) or PMc (7.3%) (Tambasco et al, 2016).…”

Section: Park1/park4-sncamentioning

confidence: 94%

“…They found that among the reported 137 cases, depression is more common in Tc (69.0%) and Dc (35.0%) than in PMc (13.2%) (Tambasco et al, 2016). The frequency of anxiety (Tc 3.4%, Dc 5.0%, and PMc 5.9%) and sleep disturbances (Tc 20.7%, Dc 17.3%, and PMc 10.3%), usually presenting as RBD, manifest with a similar frequency for all 3 groups (Tambasco et al, 2016). Also, 69% of Tc, 42.5% Dc, and 25% of PMc have cognitive impairment (Tambasco et al, 2016).…”

Section: Park1/park4-sncamentioning

confidence: 99%

“…The severity of the latter skin abnormalities in E46K-SNCA was correlated with sudomotor dysfunction in hands (Carmona-Abellan et al, 2019). Tambasco et al (2016) summarized the NMS in SNCA point mutations (PMc), duplication (Dc), and triplication (Tc) carriers. They found that among the reported 137 cases, depression is more common in Tc (69.0%) and Dc (35.0%) than in PMc (13.2%) (Tambasco et al, 2016).…”

Section: Park1/park4-sncamentioning

confidence: 99%

“…Tambasco et al (2016) summarized the NMS in SNCA point mutations (PMc), duplication (Dc), and triplication (Tc) carriers. They found that among the reported 137 cases, depression is more common in Tc (69.0%) and Dc (35.0%) than in PMc (13.2%) (Tambasco et al, 2016). The frequency of anxiety (Tc 3.4%, Dc 5.0%, and PMc 5.9%) and sleep disturbances (Tc 20.7%, Dc 17.3%, and PMc 10.3%), usually presenting as RBD, manifest with a similar frequency for all 3 groups (Tambasco et al, 2016).…”

Section: Park1/park4-sncamentioning

confidence: 99%

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Profiling Non-motor Symptoms in Monogenic Parkinson’s Disease

Liu

2020

Front. Aging Neurosci.

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Parkinson's disease (PD) is the second most common neurodegenerative disease in the elder population, pathologically characterized by the progressive loss of dopaminergic neurons in the substantia nigra. While the precise mechanisms underlying the pathogenesis of PD remain unknown, various genetic factors have been proved to be associated with PD. To date, at least 23 loci and 19 disease-causing genes for PD have been identified. Although monogenic (often familial) cases account for less than 5% of all PD patients, exploring the phenotypes of monogenic PD can help us understand the disease pathogenesis and progression. Primary motor symptoms are important for PD diagnosis but only detectable at a relatively late stage. Despite typical motor symptoms, various non-motor symptoms (NMS) including sensory complaints, mental disorders, autonomic dysfunction, and sleep disturbances also have negative impacts on the quality of life in PD patients and pose major challenges for disease management. NMS is common in all stages of the PD course. NMS can occur long before the onset of PD motor symptoms or can present in the middle or late stage of the disease accompanied by motor symptoms. Therefore, the profiling and characterization of NMS in monogenic PD may help the diagnosis and differential diagnosis of PD, which thereby can execute early intervention to delay the disease progression. In this review, we summarize the characteristics, clinical phenotypes, especially the NMS of monogenic PD patients carrying mutations of SNCA, LRRK2, VPS35, Parkin, PINK1, DJ-1, and GBA. The clinical implications of this linkage between NMS and PD-related genes are also discussed.

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Section: Park1/park4-sncamentioning

confidence: 94%

Section: Park1/park4-sncamentioning

confidence: 99%

Section: Park1/park4-sncamentioning

confidence: 99%

Section: Park1/park4-sncamentioning

confidence: 99%

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Profiling Non-motor Symptoms in Monogenic Parkinson’s Disease

Liu

2020

Front. Aging Neurosci.

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“…Parkinson's disease(PD) is the second most common neurodegenerative disease after Alzheimer's disease (AD) [2].Although genetic, environmental and aging factors play a role in the pathogenesis of PD, the exact pathogenesis is not clear [3,4].Two important neuropathological features of PD are characterized by specific iron accumulation in the substantia nigra and residual eosinophilic inclusions in dopamine neurons, which is the Lewy body [5].Because of the cytotoxic effect of iron and its ability to promote the production of oxygen free radicals, the role of iron in PD cannot be ignored [6][7][8].A large number of studies have confirmed that black matter iron accumulation is involved in the pathogenesis of PD. Iron-selective deposition has been found in the substantia nigra of PD patients and animal models [9]In the present study, SH-SY5Y dopaminergic cells were treated with iron to explore theregulationofRab protein associated with exosomes.…”

Section: Introductionmentioning

confidence: 99%

Effects of Ferric Ammonium Citrate (FAC) on Rab Family in SH-SY5Y Dopaminergic Cells

Zhufu¹

2018

ijSciences

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To examine the effects of ferric ammonium citrate (FAC) on Rab family in SH-SY5Y dopaminergic cells.Western blot was used to investigate Rab7,Rab11,Rab27a and Rab35 protein levels in SH-SY5Y dopaminegic cells with FAC for 4h and 12h.When SH-SY5Y cells were treated with 100 μmol/L or 1 mmol/L FAC for 4h and 12 h, Rab7, Rab11 and Rab27a protein levels was not significantly different from those of the control group.However, Rab35 protein was significantly up-regulated in SH-SY5Y cells with 1 mmol/L FACtreatment.Iron overloadupregulates Rab35 protein expressionin SH-SY5Y dopaminergic cells.

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α‐Synuclein V15A Variant in Familial Parkinson's Disease Exhibits a Weaker Lipid‐Binding Property

et al. 2022

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A BS TRACT: Background: The α-Synuclein (α-Syn) V15A variant has been found in two Caucasian families with Parkinson's disease (PD). However, the significance of this missense variant remained unclear. Objective: We sought to elucidate whether V15A could increase aggregation or change phospholipid affinity. Methods: A sequencing analysis for the SNCA encoding α-Syn from 875 patients with PD and 324 control subjects was performed. Comparing with known pathogenic missense variants of α-Syn, A30P, and A53T, we analyzed the effects of V15A on binding to phospholipid membrane, self-aggregation, and seed-dependent aggregation in cultured cells. Results: Genetic screening identified SNCA c.44 T>C (p.V15A) from two Japanese PD families. The missense variant V15A was extremely rare in several public databases and predicted as pathogenic using in silico tools. The amplification activity of α-Syn V15A fibrils was stronger than that of wild-type α-Syn fibrils. Conclusions: The discovery of the V15A variant from Japanese families reinforces the possibility that the V15A variant may be a causative variant for developing PD. V15A had a reduced affinity for phospholipids and increased propagation activity compared with wild-type.

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A53T in a parkinsonian family: a clinical update of the SNCA phenotypes

Cited by 32 publications

References 56 publications

Profiling Non-motor Symptoms in Monogenic Parkinson’s Disease

Profiling Non-motor Symptoms in Monogenic Parkinson’s Disease

Effects of Ferric Ammonium Citrate (FAC) on Rab Family in SH-SY5Y Dopaminergic Cells

α‐Synuclein V15A Variant in Familial Parkinson's Disease Exhibits a Weaker Lipid‐Binding Property

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