Genetic Analysis of<i>LRRK1</i>and<i>LRRK2</i>Variants in Essential Tremor Patients

Chen, Han; Yuan, Lamei; Song, Zhi; Deng, Xiong; Yang, Zhijian; Gong, Ling; Zi, Xiaohong; Deng, Hao

doi:10.1089/gtmb.2017.0277

Cited by 11 publications

(11 citation statements)

References 37 publications

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“…More precisely, carriers of R1628P appeared to have a two-fold increased risk of ET (p = 0.0035, OR = 2.20) in a cohort consisting mainly of Asians (90%) [86]. However, other examined variants of LRRK1 and LRRK2 genes, in Asian and Non-Hispanic whites cohorts [84,[87][88][89], failed to present any association with ET.…”

Section: Lrrk2 (Leucine-rich Repeat Kinase 2) Lrrk1 (Leucine-rich Rementioning

confidence: 93%

Genetic Risk Factors for Essential Tremor: A Review

Siokas

Aloizou

Tsouris

et al. 2020

Tremor and Other Hyperkinetic Movements

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Highlights In the current review, we thoroughly reviewed 74 identified articles regarding genes and genetic loci that confer susceptibility to ET. Over 50 genes/genetic loci have been examined for possible association with ET, but consistent results failed to be reported raising the need for collaborative multiethnic studies. Background: Essential tremor (ET) is a common movement disorder, which is mainly characterized by bilateral tremor (postural and/or kinetic) in the upper limbs, with other parts of the body possibly involved. While the pathophysiology of ET is still unclear, there is accumulating evidence indicating that genetic variability may be heavily involved in ET pathogenesis. This review focuses on the role of genetic risk factors in ET susceptibility. Methods: The PubMed database was searched for articles written in English, for studies with humans with ET, controls without ET, and genetic variants. The terms "essential tremor" and "polymorphism" (as free words) were used during search. We also performed meta-analyses for the most examined genetic variants. Results: Seventy four articles concerning LINGO1,

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Section: Lrrk2 (Leucine-rich Repeat Kinase 2) Lrrk1 (Leucine-rich Rementioning

confidence: 93%

Genetic Risk Factors for Essential Tremor: A Review

Siokas

Aloizou

Tsouris

et al. 2020

Tremor and Other Hyperkinetic Movements

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“…It is estimated that between 20% and 90% of ET patients have a positive family history, which is more frequent in young-onset cases [ 18 , 19 ]. There is a concordance between 60 and 77% in monozygotic twins [ 12 , 20 ].…”

Section: Geneticsmentioning

confidence: 99%

“…The authors tested 26 loci derived from genome-wide association studies in ET patients and found no role for them in PD patients. Similarly, a Chinese group studied LRRK1 and LRKK2 variants (a common cause of monogenic PD) in a cohort of ET patients, again finding no association [ 20 ].…”

Section: Geneticsmentioning

confidence: 99%

Essential tremor: New advances

Soto

Fasano

2020

Clinical Parkinsonism & Related Disorders

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Background Essential Tremor (ET) is one of the most common movement disorders but many controversies still exist in regards to its definition and pathophysiology. In view of the recent published criteria by the Tremor Task Force of the International Parkinson's and Movement Disorders Society (IPMDS), we intended to analyze if this has changed our view of ET and if new developments have arisen since. Methods A Medline search for English-written articles was done on June 15, 2019 using the keyword “Essential Tremor”. Publications from November 2017 (publication date of the new tremor classification) were taken into account. Reviews, letters and original studies relevant to the subject were selected and reviewed according to the following themes: clinical characteristics, epidemiology, genetics, pathology, biomarkers and treatment. Results Out of 132 publications the most relevant articles were selected and reviewed (total of 65 articles). The great majority of these studies focused on surgical treatments (new targets, new technologies) while relatively few articles addressed epidemiology, pathology and pathophysiology. Conclusions The use of the new classification is not commonly used still, excepting more recent studies on therapeutics. This is in keeping with diverse opinions and criticisms reported by the IPMDS task force members themselves. One important change has been validating ET as a heterogeneous condition and defining the ET-plus category. We propose a further sub-group classification derived from the new definition of ET-plus.

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“…While a number of studies have failed to identify the causative genes (104)(105)(106)(107)(108)(109)(110)(111), several risk genes appear to have an overlapping role in ET and PD (112). For instance, association studies have found that leucine-rich repeat and immunoglobulin containing 1 gene is involved in the pathogenesis of ET and PD (113)(114)(115)(116)(117)(118) and serves as a potential therapeutic target in these two disorders.…”

Section: Geneticsmentioning

confidence: 99%

Prodromal Markers of Parkinson's Disease in Patients With Essential Tremor

Wang

Feng²,

Li³

et al. 2020

Front. Neurol.

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Background: Essential tremor (ET) is manifested as an isolated syndrome of bilateral upper limb action tremor. Parkinson's disease (PD) is the second most common neurodegenerative disease, with typical motor symptoms of bradykinesia, rigidity, and resting tremor. ET-PD describes the new-onset of PD in ET patients. Recently, numerous studies on epidemiology, genetics, pathology, clinical features, and neuroimaging studies are challenging the idea that ET is an isolated disease, suggesting that patients with ET have the tendency to develop PD. Methods: In this review article, we collected recent findings that reveal prodromal markers of PD in patients with ET. Results: Substantia nigra hyperechogenicity serves as a prodromal marker for predicting the development of PD in patients with ET and provides a reference for therapeutic strategies. Additional potential markers include other neuroimaging, clinical features, heart rate, and genetics, whereas others lack sufficient evidence. Conclusion: In consideration of the limited research of PD in patients with ET, we are still far from revealing the prodromal markers. However, from the existing follow-up studies on ET patients, Substantia nigra hyperechogenicity may enable further exploration of the relationship between ET and PD and the search for pathogenesis-based therapies.

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Genetic Analysis ofLRRK1andLRRK2Variants in Essential Tremor Patients

Abstract: The data suggest that LRRK1 variant (rs2924835) and LRRK2 variants (rs34594498, rs34410987, and rs33949390) are not associated with ET in this Han Chinese population.

Cited by 11 publications

References 37 publications

Genetic Risk Factors for Essential Tremor: A Review

Genetic Risk Factors for Essential Tremor: A Review

Essential tremor: New advances

Prodromal Markers of Parkinson's Disease in Patients With Essential Tremor

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