The <i>VPS35</i> gene and Parkinson's disease

Deng, Hao; Gao, Kai; Jankovic, Joseph

doi:10.1002/mds.25430

Cited by 83 publications

(63 citation statements)

References 79 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…There are about 50 cases of the D620N mutation mentioned in literature. The frequency has previously been estimated to be about 0.1 to 1% in patients with familial autosomal dominant PD [21], but may be rarer than that [17]. Of those patients only insufficient clinical data are available.…”

Section: Discussionmentioning

confidence: 99%

VPS35-Linked Parkinson’s Disease Resembles the Idiopathic Disease: A Review of Clinical Trials

Brim¹,

Gerhard²,

Zimprich³

et al. 2017

J Alzheimers Dis Parkinsonism

View full text Add to dashboard Cite

Section: Discussionmentioning

confidence: 99%

VPS35-Linked Parkinson’s Disease Resembles the Idiopathic Disease: A Review of Clinical Trials

Brim¹,

Gerhard²,

Zimprich³

et al. 2017

J Alzheimers Dis Parkinsonism

View full text Add to dashboard Cite

“…Subsequent studies in multiple ethnic groups, including a large multicenter study [ 65 , 66 ], indicated that the VPS35 D620N mutation rarely causes autosomal dominant PD; the frequency ranges from 0.1 to 1 %, with an overall frequency lower than 0.1 % (24/22,612). It was absent from >16,000 healthy controls [ 67 ]. Like LRRK2 mutations, the VPS35 D620N mutation was found in rare sporadic cases [ 68 ] and unaffected individuals over 80 years of age [ 63 ], indicating reduced penetrance.…”

Section: Recently Identifi Ed Genes Causing Autosomal Dominant Pdmentioning

confidence: 96%

Genetics of Mendelian Forms of Parkinson’s Disease

Lesage

2015

Movement Disorder Genetics

View full text Add to dashboard Cite

Over the past decade, genetic causes of parkinsonism have been elucidated but in less than 10 % of the cases. Since the discovery of the fi rst gene responsible for Parkinson's disease (PD), SCNA encoding α-synuclein, linkage mapping, and positional cloning have identifi ed autosomal dominantly or recessively inherited PD-causing mutations in the genes encoding Parkin , PTEN-induced kinase 1 ( PINK1 ), DJ -1 , leucine-rich repeat kinase 2 ( LRRK2 ), and ATP13A2 , indicating that PD has a highly heterogeneous etiology. With the introduction of next-generation sequencing, rare mutations in DNAJC6 , SYNJ1 , VPS35 , and DNAJC13 were then discovered to cause inherited parkinsonism. In addition, polymorphic variants in SNCA and LRRK2 and heterozygous mutations in the genes encoding β-glucocerebrosidase ( GBA ) and guanosine triphosphate cyclohydrolase 1 ( GCH1 ) appear to contribute to sporadic PD in several populations. These mutations have been linked to mitochondrial dysfunction, accumulation of abnormal and misfolded proteins, impaired protein clearance, defective recycling of synaptic vesicles, and oxidative stress. Identifi cation of other Mendelian forms of PD will be the main challenge for the next decade.

show abstract

“…Mutation D620N is more frequent in Jewish Yemenis (1,67%), in France (1,2%) in Tunisia (0,5%), but it has never been found in Canadians, Norwegians, Polish, Irish, Thai, Germans, Chinese, Belgians from the Flanders region, South-Africans or Indians and is uncommon in Greeks [96,97].…”

Section: G2019s Mutation That Leads To Aminoacid Substitution Is Rementioning

confidence: 99%

Genes involved in the development of Parkinson

Teixeira¹,

Cardoso²

2017

Open J Parkinsons Dis Treatm

View full text Add to dashboard Cite

Background: Parkinson's disease is the second most important neurodegenerative disorder, affecting 3% of individuals older than 80 years of age. Main clinical symptoms are resting tremor, postural instability, bradykinesia and rigidity, with a good response to levodopa therapy. Purpose of the study:The main goal of this work is to make a deep analysis on the genetic factors and kind of heritage involved in the development of Parkinson. Main fi ndings:Over the last years, numerous studies allowed to confirm the unquestionable contribution of genetic factors to the complex pathogenesis of this disease. Highly penetrant mutations producing rare, monogenic forms of the disease have been identifi ed in singular genes such as SNCA, Parkin, DJ-1, PINK1, LRRK2, and VPS35. Unique variants with incomplete penetrance in LRRK2 and GBA genes were identifi ed as strong risk factors for Parkinson's disease in certain populations. Additionally, over 20 common variants with small effect sizes are now recognized to modulate the risk for Parkinson's disease.Investigating Mendelian forms of Parkinson disease has provided precious insight into the pathophysiology that underlies the more common idiopathic form of this disorder. Conclusions:The challenge over the next decade will be to get more data that strengthens the already available knowledge concerning genetics on Parkinson's disease, through the discovery of biological consequences of risk variants. Moreover, it is also expected that the advent of genome-wide association studies and the implementation of new research technologies will help in the identifi cation of novel risk variants for the sporadic forms of Parkinson disease.

show abstract

The VPS35 gene and Parkinson's disease

Cited by 83 publications

References 79 publications

VPS35-Linked Parkinson’s Disease Resembles the Idiopathic Disease: A Review of Clinical Trials

VPS35-Linked Parkinson’s Disease Resembles the Idiopathic Disease: A Review of Clinical Trials

Genetics of Mendelian Forms of Parkinson’s Disease

Genes involved in the development of Parkinson

Contact Info

Product

Resources

About