Researchers at the Perelman School of Medicine at the University of Pennsylvania and other institutions have uncovered a site of genetic variation that identified which patients with Parkinson\u2019s disease are more likely to have tremors versus difficulty with balance and walking. The Penn team also found that patients with this genetic variation had a slower rate of Parkinson\u2019s disease progression, and lower amounts of alpha-synuclein in the brain. Alpha-synuclein is a protein that experts know plays a role in the development of Parkinson’s disease.<\/p>\n
Clinicians have long noted that the presence of tremors, rather than balance and walking problems, as the initial or dominant symptom of Parkinson\u2019s may suggest slower progression of the disease. The Penn-led study is one of the first to link this difference to a specific genetic variation. Tremor-dominant patients are also less likely to develop dementia, although this symptom was not assessed in the study.<\/p>\n
\u201cWe have never understood the reason why some people present with more tremor vs. walking\/balance difficulties in Parkinson\u2019s disease,\u201d said the study\u2019s lead author, Christine A. Cooper, MD, a fellow in movement disorders at Penn Medicine. \u201cThis finding gives us information, for the first time, that has implications for diagnosis, prognosis, treatment, and prevention efforts.\u201d<\/p>\n
In the study, the investigators ranked 251 Parkinson\u2019s disease patients at the University of Pennsylvania Health System on tremor and balance\/walking scores. They then looked at the patients\u2019 genotypes to see if there were correlations between ten genetic variations previously associated with Parkinson\u2019s disease and the primary symptoms that the patients displayed.<\/p>\n
The researchers found that 39 of the 251 patients who had a genetic variation known as the GG genotype at the rs356182 SNP 3\u2019 to the SNCA gene were more likely to have: 1) tremors rather than walking\/balance problems; 2) slower physical progression of the disease; and 3) lower levels of alpha-synuclein in the brain. Patients were followed up to seven years in some cases. The investigators carried out the same type of analysis with an additional group of 559 patients at three other clinical sites in the United States and found similar results for the association between the genotype and the type of PD symptoms.<\/p>\n
\u201cThis is how we can start thinking about precision medicine in action,\u201d said the study\u2019s senior author, Alice S. Chen-Plotkin, MD, an assistant professor of neurology at Penn. \u201cWe found that a relatively common genetic variation can both serve as a biomarker for and influence the disease course of Parkinson\u2019s patients. This opens up the possibility of achieving a hallmark of precision medicine: targeted therapies for different \u2018versions\u2019 of what was once thought to be a single disease.\u201d\nUniversity of Pennsylvania Health System<\/link>\n","protected":false},"excerpt":{"rendered":"
Researchers at the Perelman School of Medicine at the University of Pennsylvania and other institutions have uncovered a site of genetic variation that identified which patients with Parkinson\u2019s disease are more likely to have tremors versus difficulty with balance and walking. The Penn team also found that patients with this genetic variation had a slower […]<\/p>\n","protected":false},"author":2,"featured_media":0,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_monsterinsights_skip_tracking":false,"_monsterinsights_sitenote_active":false,"_monsterinsights_sitenote_note":"","_monsterinsights_sitenote_category":0,"footnotes":""},"categories":[35],"tags":[],"_links":{"self":[{"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/posts\/1233"}],"collection":[{"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/comments?post=1233"}],"version-history":[{"count":0,"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/posts\/1233\/revisions"}],"wp:attachment":[{"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/media?parent=1233"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/categories?post=1233"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/tags?post=1233"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}