+ Site Statistics
+ Search Articles
+ Subscribe to Site Feeds
Most Shared
PDF Full Text
+ PDF Full Text
Request PDF Full Text
+ Follow Us
Follow on Facebook
Follow on Twitter
Follow on LinkedIn
+ Translate
+ Recently Requested

Frequency of the D620N mutation in VPS35 in Parkinson disease

Frequency of the D620N mutation in VPS35 in Parkinson disease

Archives of Neurology 69(10): 1360-1364

To evaluate the frequency and clinical spectrum of the recently identified p.D620N mutation in the VPS35 gene in Parkinson disease (PD) in an international sample. Genetic analysis by DNA sequencing and detailed clinical and neuropsychiatric assessment as well as neuroimaging in mutation carriers. Tertiary referral centers in Germany, Serbia, Chile, and the United States. One thousand seven hundred seventy-four patients with PD. Frequency of the p.D620N mutation. A single mutation carrier was identified. The mutation carrier was a 60-year-old German man who had tremor-dominant PD since the age of 45 years. Longitudinal follow-up over 13 years revealed a disease progression from Hoehn and Yahr stage 1 to 3. There was evidence of mild cognitive impairment on the Montreal Cognitive Assessment. No abnormalities were observed by multimodal neuroimaging. He had a family history consistent with autosomal dominant inheritance. An affected paternal aunt and 3 reportedly unaffected siblings were also found to be mutation carriers. VPS35 mutations are a rare cause of PD in different populations. The clinical phenotype may be indistinguishable from idiopathic PD with the possible exception of an earlier age at onset. Genetic analysis of the extended family revealed incomplete penetrance of the p.D620N mutation.

(PDF emailed within 0-6 h: $19.90)

Accession: 053303712

Download citation: RISBibTeXText

PMID: 22801713

DOI: 10.1001/archneurol.2011.3367

Related references

Role of the VPS35 D620N mutation in Parkinson's disease. Parkinsonism and Related Disorders 36: 10-18, 2016

The Vps35 D620N mutation linked to Parkinson's disease disrupts the cargo sorting function of retromer. Traffic 15(2): 230-244, 2014

Retromer binding to FAM21 and the WASH complex is perturbed by the Parkinson disease-linked VPS35(D620N) mutation. Current Biology 24(14): 1670-1676, 2015

The Parkinson's disease VPS35[D620N] mutation enhances LRRK2-mediated Rab protein phosphorylation in mouse and human. Biochemical Journal 475(11): 1861-1883, 2018

Retromer-dependent neurotransmitter receptor trafficking to synapses is altered by the Parkinson's disease VPS35 mutation p.D620N. Human Molecular Genetics 24(6): 1691-1703, 2015

Retromer Binding to FAM21 and the WASH Complex Is Perturbed by the Parkinson Disease-Linked VPS35(D620N) Mutation. Current Biology 24(14): 1678, 2014

Identification of VPS35 p.D620N mutation-related Parkinson's disease in a Taiwanese family with successful bilateral subthalamic nucleus deep brain stimulation: a case report and literature review. Bmc Neurology 17(1): 191, 2018

EIF4G1 R1205H and VPS35 D620N mutations are rare in Parkinson's disease from South Africa. Neurobiology of Aging 35(2): 445.E1-3, 2014

Parkinson's disease-linked D620N VPS35 knockin mice manifest tau neuropathology and dopaminergic neurodegeneration. Proceedings of the National Academy of Sciences of the United States of America 2019, 2019

Frequency of the ASP620ASN mutation in VPS35 and Arg1205His mutation in EIF4G1 in familial Parkinson's disease from South Italy. Neurobiology of Aging 35(10): 2422.E1-2, 2015

D620N mutation in the VPS35 gene and R1205H mutation in the EIF4G1 gene are uncommon in the Greek population. Neuroscience Letters 606: 113-116, 2016

The Asp620asn mutation in VPS35 is not a common cause of familial Parkinson's disease. Movement Disorders 27(6): 800-801, 2012

Parkinson's disease-associated pathogenic VPS35 mutation causes complex I deficits. Biochimica et Biophysica Acta. Molecular Basis of Disease 1863(11): 2791-2795, 2017

VPS35 mutation in Japanese patients with typical Parkinson's disease. Movement Disorders 27(11): 1413-1417, 2013

VPS35 mutation in Chinese Han patients with late-onset Parkinson's disease. European Journal of Neurology 19(9): E96-E97, 2013