Prevalence and clinical features of common LRRK2 mutations in Australians with Parkinson's Disease
We determined the prevalence of two common leucine‐rich repeat kinase 2 (LRRK2) gene mutations in Australian patients with Parkinson's disease (PD). Of 830 affected patients, eight were heterozygous for the G2019S mutation, and two were heterozygous for the R1441H (4,322 G > A) mutation. In...
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| Veröffentlicht in: | Movement disorders 2007-05, Vol.22 (7), p.982-989 |
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| creator | Huang, Yue Halliday, Glenda M. Vandebona, Himesha Mellick, George D. Mastaglia, Frank Stevens, Julia Kwok, John Garlepp, Michael Silburn, Peter A. Horne, Malcolm K. Kotschet, Katya Venn, Alison Rowe, Dominic B. Rubio, Justin P. Sue, Carolyn M. |
| description | We determined the prevalence of two common leucine‐rich repeat kinase 2 (LRRK2) gene mutations in Australian patients with Parkinson's disease (PD). Of 830 affected patients, eight were heterozygous for the G2019S mutation, and two were heterozygous for the R1441H (4,322 G > A) mutation. In addition, one familial patient had a novel A1442P (4,324 G > C) mutation. Haplotype analysis showed that all LRRK2 G2019S‐positive individuals carried the common founder haplotype 1 and a putative founder haplotype for the R1441H mutation carriers. Clinically, patients with LRRK2 mutations had typical levodopa responsive Parkinsonism with tremor being the commonest presenting feature. Patients with the G2019S mutation in our series had a similar age of onset of symptoms when compared with patients with other LRRK2 mutations or sporadic PD, although they were more likely to have a family history of PD (2.4% of Australian patients with familial PD and 0.3% of Australian patients with sporadic PD). Our results demonstrate that the G2019S mutation carriers share the same ancestors who migrated to Australia originally from Europe and that other LRRK2 mutations (R1441H and A1442P) can be found in this population. © 2007 Movement Disorder Society |
| doi_str_mv | 10.1002/mds.21477 |
| format | Article |
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Of 830 affected patients, eight were heterozygous for the G2019S mutation, and two were heterozygous for the R1441H (4,322 G > A) mutation. In addition, one familial patient had a novel A1442P (4,324 G > C) mutation. Haplotype analysis showed that all LRRK2 G2019S‐positive individuals carried the common founder haplotype 1 and a putative founder haplotype for the R1441H mutation carriers. Clinically, patients with LRRK2 mutations had typical levodopa responsive Parkinsonism with tremor being the commonest presenting feature. Patients with the G2019S mutation in our series had a similar age of onset of symptoms when compared with patients with other LRRK2 mutations or sporadic PD, although they were more likely to have a family history of PD (2.4% of Australian patients with familial PD and 0.3% of Australian patients with sporadic PD). Our results demonstrate that the G2019S mutation carriers share the same ancestors who migrated to Australia originally from Europe and that other LRRK2 mutations (R1441H and A1442P) can be found in this population. © 2007 Movement Disorder Society</description><identifier>ISSN: 0885-3185</identifier><identifier>EISSN: 1531-8257</identifier><identifier>DOI: 10.1002/mds.21477</identifier><identifier>PMID: 17427941</identifier><language>eng</language><publisher>Hoboken: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>A1442P ; Aged ; Australia - epidemiology ; Biological and medical sciences ; Cohort Studies ; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases ; DNA Mutational Analysis ; Family Health ; Female ; G2019S ; Genetic Predisposition to Disease ; Glycine - genetics ; Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy ; Humans ; Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 ; LRRK2 ; Male ; Medical sciences ; Middle Aged ; Mutation ; Nervous system (semeiology, syndromes) ; Neurology ; Parkinson Disease - epidemiology ; Parkinson Disease - genetics ; Parkinson's disease ; Prevalence ; Protein-Serine-Threonine Kinases - genetics ; R1441G/C/H ; Serine - genetics</subject><ispartof>Movement disorders, 2007-05, Vol.22 (7), p.982-989</ispartof><rights>Copyright © 2007 Movement Disorder Society</rights><rights>2007 INIST-CNRS</rights><rights>(c) 2007 Movement Disorder Society.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4227-9dd6ebad3d6f64c8f05913e5f7135eb69615c3c843351af814cc454cb60985613</citedby><cites>FETCH-LOGICAL-c4227-9dd6ebad3d6f64c8f05913e5f7135eb69615c3c843351af814cc454cb60985613</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fmds.21477$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fmds.21477$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,780,784,1417,27924,27925,45574,45575</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=18817056$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/17427941$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Huang, Yue</creatorcontrib><creatorcontrib>Halliday, Glenda M.</creatorcontrib><creatorcontrib>Vandebona, Himesha</creatorcontrib><creatorcontrib>Mellick, George D.</creatorcontrib><creatorcontrib>Mastaglia, Frank</creatorcontrib><creatorcontrib>Stevens, Julia</creatorcontrib><creatorcontrib>Kwok, John</creatorcontrib><creatorcontrib>Garlepp, Michael</creatorcontrib><creatorcontrib>Silburn, Peter A.</creatorcontrib><creatorcontrib>Horne, Malcolm K.</creatorcontrib><creatorcontrib>Kotschet, Katya</creatorcontrib><creatorcontrib>Venn, Alison</creatorcontrib><creatorcontrib>Rowe, Dominic B.</creatorcontrib><creatorcontrib>Rubio, Justin P.</creatorcontrib><creatorcontrib>Sue, Carolyn M.</creatorcontrib><title>Prevalence and clinical features of common LRRK2 mutations in Australians with Parkinson's Disease</title><title>Movement disorders</title><addtitle>Mov. Disord</addtitle><description>We determined the prevalence of two common leucine‐rich repeat kinase 2 (LRRK2) gene mutations in Australian patients with Parkinson's disease (PD). Of 830 affected patients, eight were heterozygous for the G2019S mutation, and two were heterozygous for the R1441H (4,322 G > A) mutation. In addition, one familial patient had a novel A1442P (4,324 G > C) mutation. Haplotype analysis showed that all LRRK2 G2019S‐positive individuals carried the common founder haplotype 1 and a putative founder haplotype for the R1441H mutation carriers. Clinically, patients with LRRK2 mutations had typical levodopa responsive Parkinsonism with tremor being the commonest presenting feature. Patients with the G2019S mutation in our series had a similar age of onset of symptoms when compared with patients with other LRRK2 mutations or sporadic PD, although they were more likely to have a family history of PD (2.4% of Australian patients with familial PD and 0.3% of Australian patients with sporadic PD). Our results demonstrate that the G2019S mutation carriers share the same ancestors who migrated to Australia originally from Europe and that other LRRK2 mutations (R1441H and A1442P) can be found in this population. © 2007 Movement Disorder Society</description><subject>A1442P</subject><subject>Aged</subject><subject>Australia - epidemiology</subject><subject>Biological and medical sciences</subject><subject>Cohort Studies</subject><subject>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</subject><subject>DNA Mutational Analysis</subject><subject>Family Health</subject><subject>Female</subject><subject>G2019S</subject><subject>Genetic Predisposition to Disease</subject><subject>Glycine - genetics</subject><subject>Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy</subject><subject>Humans</subject><subject>Leucine-Rich Repeat Serine-Threonine Protein Kinase-2</subject><subject>LRRK2</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>Mutation</subject><subject>Nervous system (semeiology, syndromes)</subject><subject>Neurology</subject><subject>Parkinson Disease - epidemiology</subject><subject>Parkinson Disease - genetics</subject><subject>Parkinson's disease</subject><subject>Prevalence</subject><subject>Protein-Serine-Threonine Kinases - genetics</subject><subject>R1441G/C/H</subject><subject>Serine - genetics</subject><issn>0885-3185</issn><issn>1531-8257</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2007</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqF0ctu1DAUBmALgehQWPACyBtALNL6xNcsqw4UxABVW8TSchxbGBKn9UkofXtSZqArxOrI0ncu-k3IU2AHwFh9OHR4UIPQ-h5ZgeRQmVrq-2TFjJEVByP3yCPEb4wBSFAPyR5oUetGwIq0pyX8cH3IPlCXO-r7lJN3PY3BTXMJSMdI_TgMY6abs7P3NR3myU1pzEhTpkczTsX1yS3P6zR9paeufE8Zx_wS6TphcBgekwfR9Rie7Oo--fzm9cXx22rz6eTd8dGm8qKuddV0nQqt63inohLeRCYb4EFGDVyGVjUKpOfeCM4luGhAeC-k8K1ijZEK-D55sZ17WcarOeBkh4Q-9L3LYZzRaiYV48D-C2sALXVjFvhqC30ZEUuI9rKkwZUbC8zeJm-X5O3v5Bf7bDd0bofQ3cld1At4vgMOl4BjcdknvHPGwO2FizvcuuvUh5t_b7Qf1ud_VlfbjoRT-Pm3Y_kJqzTX0n75eGLlWip1zi7smv8CpAeoYg</recordid><startdate>20070515</startdate><enddate>20070515</enddate><creator>Huang, Yue</creator><creator>Halliday, Glenda M.</creator><creator>Vandebona, Himesha</creator><creator>Mellick, George D.</creator><creator>Mastaglia, Frank</creator><creator>Stevens, Julia</creator><creator>Kwok, John</creator><creator>Garlepp, Michael</creator><creator>Silburn, Peter A.</creator><creator>Horne, Malcolm K.</creator><creator>Kotschet, Katya</creator><creator>Venn, Alison</creator><creator>Rowe, Dominic B.</creator><creator>Rubio, Justin P.</creator><creator>Sue, Carolyn M.</creator><general>Wiley Subscription Services, Inc., A Wiley Company</general><general>Wiley</general><scope>BSCLL</scope><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7TK</scope><scope>7X8</scope><scope>8BM</scope></search><sort><creationdate>20070515</creationdate><title>Prevalence and clinical features of common LRRK2 mutations in Australians with Parkinson's Disease</title><author>Huang, Yue ; Halliday, Glenda M. ; Vandebona, Himesha ; Mellick, George D. ; Mastaglia, Frank ; Stevens, Julia ; Kwok, John ; Garlepp, Michael ; Silburn, Peter A. ; Horne, Malcolm K. ; Kotschet, Katya ; Venn, Alison ; Rowe, Dominic B. ; Rubio, Justin P. ; Sue, Carolyn M.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4227-9dd6ebad3d6f64c8f05913e5f7135eb69615c3c843351af814cc454cb60985613</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2007</creationdate><topic>A1442P</topic><topic>Aged</topic><topic>Australia - epidemiology</topic><topic>Biological and medical sciences</topic><topic>Cohort Studies</topic><topic>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</topic><topic>DNA Mutational Analysis</topic><topic>Family Health</topic><topic>Female</topic><topic>G2019S</topic><topic>Genetic Predisposition to Disease</topic><topic>Glycine - genetics</topic><topic>Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy</topic><topic>Humans</topic><topic>Leucine-Rich Repeat Serine-Threonine Protein Kinase-2</topic><topic>LRRK2</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Middle Aged</topic><topic>Mutation</topic><topic>Nervous system (semeiology, syndromes)</topic><topic>Neurology</topic><topic>Parkinson Disease - epidemiology</topic><topic>Parkinson Disease - genetics</topic><topic>Parkinson's disease</topic><topic>Prevalence</topic><topic>Protein-Serine-Threonine Kinases - genetics</topic><topic>R1441G/C/H</topic><topic>Serine - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Huang, Yue</creatorcontrib><creatorcontrib>Halliday, Glenda M.</creatorcontrib><creatorcontrib>Vandebona, Himesha</creatorcontrib><creatorcontrib>Mellick, George D.</creatorcontrib><creatorcontrib>Mastaglia, Frank</creatorcontrib><creatorcontrib>Stevens, Julia</creatorcontrib><creatorcontrib>Kwok, John</creatorcontrib><creatorcontrib>Garlepp, Michael</creatorcontrib><creatorcontrib>Silburn, Peter A.</creatorcontrib><creatorcontrib>Horne, Malcolm K.</creatorcontrib><creatorcontrib>Kotschet, Katya</creatorcontrib><creatorcontrib>Venn, Alison</creatorcontrib><creatorcontrib>Rowe, Dominic B.</creatorcontrib><creatorcontrib>Rubio, Justin P.</creatorcontrib><creatorcontrib>Sue, Carolyn M.</creatorcontrib><collection>Istex</collection><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Neurosciences Abstracts</collection><collection>MEDLINE - Academic</collection><collection>ComDisDome</collection><jtitle>Movement disorders</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Huang, Yue</au><au>Halliday, Glenda M.</au><au>Vandebona, Himesha</au><au>Mellick, George D.</au><au>Mastaglia, Frank</au><au>Stevens, Julia</au><au>Kwok, John</au><au>Garlepp, Michael</au><au>Silburn, Peter A.</au><au>Horne, Malcolm K.</au><au>Kotschet, Katya</au><au>Venn, Alison</au><au>Rowe, Dominic B.</au><au>Rubio, Justin P.</au><au>Sue, Carolyn M.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Prevalence and clinical features of common LRRK2 mutations in Australians with Parkinson's Disease</atitle><jtitle>Movement disorders</jtitle><addtitle>Mov. Disord</addtitle><date>2007-05-15</date><risdate>2007</risdate><volume>22</volume><issue>7</issue><spage>982</spage><epage>989</epage><pages>982-989</pages><issn>0885-3185</issn><eissn>1531-8257</eissn><abstract>We determined the prevalence of two common leucine‐rich repeat kinase 2 (LRRK2) gene mutations in Australian patients with Parkinson's disease (PD). Of 830 affected patients, eight were heterozygous for the G2019S mutation, and two were heterozygous for the R1441H (4,322 G > A) mutation. In addition, one familial patient had a novel A1442P (4,324 G > C) mutation. Haplotype analysis showed that all LRRK2 G2019S‐positive individuals carried the common founder haplotype 1 and a putative founder haplotype for the R1441H mutation carriers. Clinically, patients with LRRK2 mutations had typical levodopa responsive Parkinsonism with tremor being the commonest presenting feature. Patients with the G2019S mutation in our series had a similar age of onset of symptoms when compared with patients with other LRRK2 mutations or sporadic PD, although they were more likely to have a family history of PD (2.4% of Australian patients with familial PD and 0.3% of Australian patients with sporadic PD). Our results demonstrate that the G2019S mutation carriers share the same ancestors who migrated to Australia originally from Europe and that other LRRK2 mutations (R1441H and A1442P) can be found in this population. © 2007 Movement Disorder Society</abstract><cop>Hoboken</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>17427941</pmid><doi>10.1002/mds.21477</doi><tpages>8</tpages></addata></record> |
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| subjects | A1442P Aged Australia - epidemiology Biological and medical sciences Cohort Studies Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases DNA Mutational Analysis Family Health Female G2019S Genetic Predisposition to Disease Glycine - genetics Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy Humans Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 LRRK2 Male Medical sciences Middle Aged Mutation Nervous system (semeiology, syndromes) Neurology Parkinson Disease - epidemiology Parkinson Disease - genetics Parkinson's disease Prevalence Protein-Serine-Threonine Kinases - genetics R1441G/C/H Serine - genetics |
| title | Prevalence and clinical features of common LRRK2 mutations in Australians with Parkinson's Disease |
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