{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,25]],"date-time":"2025-04-25T04:12:47Z","timestamp":1745554367271,"version":"3.40.4"},"reference-count":19,"publisher":"S. Karger AG","issue":"1-4","license":[{"start":{"date-parts":[[2001,1,1]],"date-time":"2001-01-01T00:00:00Z","timestamp":978307200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2001,1,1]],"date-time":"2001-01-01T00:00:00Z","timestamp":978307200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Stereotact Funct Neurosurg"],"published-print":{"date-parts":[[2001]]},"abstract":"<jats:p>Linkage of the Huntington\u2019s disease gene to chromosome 4 in 1983 marked the birth of modern genetics in movement disorders. The discovery that an expanded trinucleotide DNA repeat was central to the mechanism of this disease has been repeated over and over in a growing list of inherited ataxias. In 1997, a different mutation and genetic mechanism was discovered in a severe type of generalized primary torsion dystonia \u2013 Oppenheim\u2019s dystonia. Before this, only the genetic cause for rare metabolic dystonias was known, notably dopa-responsive (Segawa\u2019s) dystonia. In the same year, from the identification of mutation in the \u03b1-synuclein gene in rare pedigrees with autosomal dominant parkinsonism, arose the concept that Parkinson\u2019s disease may be part of a broader group of \u2018synucleinopathies\u2019, in which there is a fundamental defect in protein processing. In the following year, mutations in autosomal recessive juvenile onset parkinsonism were found in a gene called \u2018parkin\u2019. Parkin mutations are a more common cause of parkinsonism than the rare \u03b1-synuclein mutations, particularly in young-onset disease. However, a most important understanding, occurring in the last year, has been the relationship between the parkin gene product, \u03b1-synuclein and abnormal protein degradation in the cell. A unified theory of neuronal death in Parkinson\u2019s disease is emerging, pointing to potential new therapies in the future.<\/jats:p>","DOI":"10.1159\/000064597","type":"journal-article","created":{"date-parts":[[2003,4,15]],"date-time":"2003-04-15T12:11:24Z","timestamp":1050408684000},"page":"48-60","source":"Crossref","is-referenced-by-count":0,"title":["Genetics of Movement Disorders: An Abbreviated Overview"],"prefix":"10.1159","volume":"77","author":[{"given":"Dominic","family":"Thyagarajan","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2002,10,7]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(93)90585-E"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0893-398"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1038\/ng0893-387"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199405193302011"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)81369-0"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1038\/ng1297-404"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1126\/science.277.5334.1990"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)80513-9"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1017\/S0033291799002871"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199906243402507"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1038\/ng0793-221"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.58.2.191"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1038\/ng709"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1126\/science.276.5321.2045"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1038\/33416"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM200005253422103"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1002\/ana.1132"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1038\/26652"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1126\/science.1060627"}],"container-title":["Stereotactic and Functional Neurosurgery"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/64597","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/64597","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T04:21:50Z","timestamp":1745468510000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000064597"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2001]]},"references-count":19,"journal-issue":{"issue":"1-4","published-online":{"date-parts":[[2002,10,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000064597","archive":["Portico"],"relation":{},"ISSN":["1011-6125","1423-0372"],"issn-type":[{"type":"print","value":"1011-6125"},{"type":"electronic","value":"1423-0372"}],"subject":[],"published":{"date-parts":[[2001]]}}}