Systematic review and UK-based study of PARK2 (parkin), PINK1, PARK7 (DJ-1) and LRRK2 in early-onset Parkinson's disease.
Identifieur interne : 000B95 ( Main/Exploration ); précédent : 000B94; suivant : 000B96Systematic review and UK-based study of PARK2 (parkin), PINK1, PARK7 (DJ-1) and LRRK2 in early-onset Parkinson's disease.
Auteurs : Laura L. Kilarski [Royaume-Uni] ; Justin P. Pearson ; Victoria Newsway ; Elisa Majounie ; M Duleeka W. Knipe ; Anjum Misbahuddin ; Patrick F. Chinnery ; David J. Burn ; Carl E. Clarke ; Marie-Helene Marion ; Alistair J. Lewthwaite ; David J. Nicholl ; Nicholas W. Wood ; Karen E. Morrison ; Caroline H. Williams-Gray ; Jonathan R. Evans ; Stephen J. Sawcer ; Roger A. Barker ; Mirdhu M. Wickremaratchi ; Yoav Ben-Shlomo ; Nigel M. Williams ; Huw R. MorrisSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2012.
English descriptors
- KwdEn :
- Cohort Studies, DNA Mutational Analysis, Female, Great Britain (epidemiology), Humans, Intracellular Signaling Peptides and Proteins (genetics), Male, Mutation (genetics), Oncogene Proteins (genetics), Parkinson Disease (epidemiology), Parkinson Disease (genetics), Protein Kinases (genetics), Protein-Serine-Threonine Kinases (genetics), Ubiquitin-Protein Ligases (genetics).
- MESH :
- chemical , genetics : Intracellular Signaling Peptides and Proteins, Oncogene Proteins, Protein Kinases, Protein-Serine-Threonine Kinases, Ubiquitin-Protein Ligases.
- geographic , epidemiology : Great Britain.
- epidemiology : Parkinson Disease.
- genetics : Mutation, Parkinson Disease.
- Cohort Studies, DNA Mutational Analysis, Female, Humans, Male.
Abstract
Approximately 3.6% of patients with Parkinson's disease develop symptoms before age 45. Early-onset Parkinson's disease (EOPD) patients have a higher familial recurrence risk than late-onset patients, and 3 main recessive EOPD genes have been described. We aimed to establish the prevalence of mutations in these genes in a UK cohort and in previous studies. We screened 136 EOPD probands from a high-ascertainment regional and community-based prevalence study for pathogenic mutations in PARK2 (parkin), PINK1, PARK7 (DJ-1), and exon 41 of LRRK2. We also carried out a systematic review, calculating the proportion of cases with pathogenic mutations in previously reported studies. We identified 5 patients with pathogenic PARK2, 1 patient with PINK1, and 1 with LRRK2 mutations. The rate of mutations overall was 5.1%. Mutations were more common in patients with age at onset (AAO) < 40 (9.5%), an affected first-degree relative (6.9%), an affected sibling (28.6%), or parental consanguinity (50%). In our study EOPD mutation carriers were more likely to present with rigidity and dystonia, and 6 of 7 mutation carriers had lower limb symptoms at onset. Our systematic review included information from >5800 unique cases. Overall, the weighted mean proportion of cases with PARK2 (parkin), PINK1, and PARK7 (DJ-1) mutations was 8.6%, 3.7%, and 0.4%, respectively. PINK1 mutations were more common in Asian subjects. The overall frequency of mutations in known EOPD genes was lower than previously estimated. Our study shows an increased likelihood of mutations in patients with lower AAO, family history, or parental consanguinity.
DOI: 10.1002/mds.25132
PubMed: 22956510
Affiliations:
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Systematic review and UK-based study of PARK2 (parkin), PINK1, PARK7 (DJ-1) and LRRK2 in early-onset Parkinson's disease.</title><author><name sortKey="Kilarski, Laura L" sort="Kilarski, Laura L" uniqKey="Kilarski L" first="Laura L" last="Kilarski">Laura L. Kilarski</name><affiliation wicri:level="1"><nlm:affiliation>MRC Centre for Neuropsychiatric Genetics and Genomics, Department of Neurology, School of Medicine, Cardiff University, Cardiff, United Kingdom.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>MRC Centre for Neuropsychiatric Genetics and Genomics, Department of Neurology, School of Medicine, Cardiff University, Cardiff</wicri:regionArea><wicri:noRegion>Cardiff</wicri:noRegion></affiliation></author><author><name sortKey="Pearson, Justin P" sort="Pearson, Justin P" uniqKey="Pearson J" first="Justin P" last="Pearson">Justin P. Pearson</name></author><author><name sortKey="Newsway, Victoria" sort="Newsway, Victoria" uniqKey="Newsway V" first="Victoria" last="Newsway">Victoria Newsway</name></author><author><name sortKey="Majounie, Elisa" sort="Majounie, Elisa" uniqKey="Majounie E" first="Elisa" last="Majounie">Elisa Majounie</name></author><author><name sortKey="Knipe, M Duleeka W" sort="Knipe, M Duleeka W" uniqKey="Knipe M" first="M Duleeka W" last="Knipe">M Duleeka W. Knipe</name></author><author><name sortKey="Misbahuddin, Anjum" sort="Misbahuddin, Anjum" uniqKey="Misbahuddin A" first="Anjum" last="Misbahuddin">Anjum Misbahuddin</name></author><author><name sortKey="Chinnery, Patrick F" sort="Chinnery, Patrick F" uniqKey="Chinnery P" first="Patrick F" last="Chinnery">Patrick F. Chinnery</name></author><author><name sortKey="Burn, David J" sort="Burn, David J" uniqKey="Burn D" first="David J" last="Burn">David J. Burn</name></author><author><name sortKey="Clarke, Carl E" sort="Clarke, Carl E" uniqKey="Clarke C" first="Carl E" last="Clarke">Carl E. Clarke</name></author><author><name sortKey="Marion, Marie Helene" sort="Marion, Marie Helene" uniqKey="Marion M" first="Marie-Helene" last="Marion">Marie-Helene Marion</name></author><author><name sortKey="Lewthwaite, Alistair J" sort="Lewthwaite, Alistair J" uniqKey="Lewthwaite A" first="Alistair J" last="Lewthwaite">Alistair J. Lewthwaite</name></author><author><name sortKey="Nicholl, David J" sort="Nicholl, David J" uniqKey="Nicholl D" first="David J" last="Nicholl">David J. Nicholl</name></author><author><name sortKey="Wood, Nicholas W" sort="Wood, Nicholas W" uniqKey="Wood N" first="Nicholas W" last="Wood">Nicholas W. Wood</name></author><author><name sortKey="Morrison, Karen E" sort="Morrison, Karen E" uniqKey="Morrison K" first="Karen E" last="Morrison">Karen E. Morrison</name></author><author><name sortKey="Williams Gray, Caroline H" sort="Williams Gray, Caroline H" uniqKey="Williams Gray C" first="Caroline H" last="Williams-Gray">Caroline H. Williams-Gray</name></author><author><name sortKey="Evans, Jonathan R" sort="Evans, Jonathan R" uniqKey="Evans J" first="Jonathan R" last="Evans">Jonathan R. Evans</name></author><author><name sortKey="Sawcer, Stephen J" sort="Sawcer, Stephen J" uniqKey="Sawcer S" first="Stephen J" last="Sawcer">Stephen J. Sawcer</name></author><author><name sortKey="Barker, Roger A" sort="Barker, Roger A" uniqKey="Barker R" first="Roger A" last="Barker">Roger A. Barker</name></author><author><name sortKey="Wickremaratchi, Mirdhu M" sort="Wickremaratchi, Mirdhu M" uniqKey="Wickremaratchi M" first="Mirdhu M" last="Wickremaratchi">Mirdhu M. Wickremaratchi</name></author><author><name sortKey="Ben Shlomo, Yoav" sort="Ben Shlomo, Yoav" uniqKey="Ben Shlomo Y" first="Yoav" last="Ben-Shlomo">Yoav Ben-Shlomo</name></author><author><name sortKey="Williams, Nigel M" sort="Williams, Nigel M" uniqKey="Williams N" first="Nigel M" last="Williams">Nigel M. Williams</name></author><author><name sortKey="Morris, Huw R" sort="Morris, Huw R" uniqKey="Morris H" first="Huw R" last="Morris">Huw R. Morris</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2012">2012</date><idno type="doi">10.1002/mds.25132</idno><idno type="RBID">pubmed:22956510</idno><idno type="pmid">22956510</idno><idno type="wicri:Area/PubMed/Corpus">000C55</idno><idno type="wicri:Area/PubMed/Curation">000C55</idno><idno type="wicri:Area/PubMed/Checkpoint">000C08</idno><idno type="wicri:Area/Ncbi/Merge">003791</idno><idno type="wicri:Area/Ncbi/Curation">003791</idno><idno type="wicri:Area/Ncbi/Checkpoint">003791</idno><idno type="wicri:Area/Main/Merge">000C01</idno><idno type="wicri:Area/Main/Curation">000B95</idno><idno type="wicri:Area/Main/Exploration">000B95</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Systematic review and UK-based study of PARK2 (parkin), PINK1, PARK7 (DJ-1) and LRRK2 in early-onset Parkinson's disease.</title><author><name sortKey="Kilarski, Laura L" sort="Kilarski, Laura L" uniqKey="Kilarski L" first="Laura L" last="Kilarski">Laura L. Kilarski</name><affiliation wicri:level="1"><nlm:affiliation>MRC Centre for Neuropsychiatric Genetics and Genomics, Department of Neurology, School of Medicine, Cardiff University, Cardiff, United Kingdom.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>MRC Centre for Neuropsychiatric Genetics and Genomics, Department of Neurology, School of Medicine, Cardiff University, Cardiff</wicri:regionArea><wicri:noRegion>Cardiff</wicri:noRegion></affiliation></author><author><name sortKey="Pearson, Justin P" sort="Pearson, Justin P" uniqKey="Pearson J" first="Justin P" last="Pearson">Justin P. Pearson</name></author><author><name sortKey="Newsway, Victoria" sort="Newsway, Victoria" uniqKey="Newsway V" first="Victoria" last="Newsway">Victoria Newsway</name></author><author><name sortKey="Majounie, Elisa" sort="Majounie, Elisa" uniqKey="Majounie E" first="Elisa" last="Majounie">Elisa Majounie</name></author><author><name sortKey="Knipe, M Duleeka W" sort="Knipe, M Duleeka W" uniqKey="Knipe M" first="M Duleeka W" last="Knipe">M Duleeka W. Knipe</name></author><author><name sortKey="Misbahuddin, Anjum" sort="Misbahuddin, Anjum" uniqKey="Misbahuddin A" first="Anjum" last="Misbahuddin">Anjum Misbahuddin</name></author><author><name sortKey="Chinnery, Patrick F" sort="Chinnery, Patrick F" uniqKey="Chinnery P" first="Patrick F" last="Chinnery">Patrick F. Chinnery</name></author><author><name sortKey="Burn, David J" sort="Burn, David J" uniqKey="Burn D" first="David J" last="Burn">David J. Burn</name></author><author><name sortKey="Clarke, Carl E" sort="Clarke, Carl E" uniqKey="Clarke C" first="Carl E" last="Clarke">Carl E. Clarke</name></author><author><name sortKey="Marion, Marie Helene" sort="Marion, Marie Helene" uniqKey="Marion M" first="Marie-Helene" last="Marion">Marie-Helene Marion</name></author><author><name sortKey="Lewthwaite, Alistair J" sort="Lewthwaite, Alistair J" uniqKey="Lewthwaite A" first="Alistair J" last="Lewthwaite">Alistair J. Lewthwaite</name></author><author><name sortKey="Nicholl, David J" sort="Nicholl, David J" uniqKey="Nicholl D" first="David J" last="Nicholl">David J. Nicholl</name></author><author><name sortKey="Wood, Nicholas W" sort="Wood, Nicholas W" uniqKey="Wood N" first="Nicholas W" last="Wood">Nicholas W. Wood</name></author><author><name sortKey="Morrison, Karen E" sort="Morrison, Karen E" uniqKey="Morrison K" first="Karen E" last="Morrison">Karen E. Morrison</name></author><author><name sortKey="Williams Gray, Caroline H" sort="Williams Gray, Caroline H" uniqKey="Williams Gray C" first="Caroline H" last="Williams-Gray">Caroline H. Williams-Gray</name></author><author><name sortKey="Evans, Jonathan R" sort="Evans, Jonathan R" uniqKey="Evans J" first="Jonathan R" last="Evans">Jonathan R. Evans</name></author><author><name sortKey="Sawcer, Stephen J" sort="Sawcer, Stephen J" uniqKey="Sawcer S" first="Stephen J" last="Sawcer">Stephen J. Sawcer</name></author><author><name sortKey="Barker, Roger A" sort="Barker, Roger A" uniqKey="Barker R" first="Roger A" last="Barker">Roger A. Barker</name></author><author><name sortKey="Wickremaratchi, Mirdhu M" sort="Wickremaratchi, Mirdhu M" uniqKey="Wickremaratchi M" first="Mirdhu M" last="Wickremaratchi">Mirdhu M. Wickremaratchi</name></author><author><name sortKey="Ben Shlomo, Yoav" sort="Ben Shlomo, Yoav" uniqKey="Ben Shlomo Y" first="Yoav" last="Ben-Shlomo">Yoav Ben-Shlomo</name></author><author><name sortKey="Williams, Nigel M" sort="Williams, Nigel M" uniqKey="Williams N" first="Nigel M" last="Williams">Nigel M. Williams</name></author><author><name sortKey="Morris, Huw R" sort="Morris, Huw R" uniqKey="Morris H" first="Huw R" last="Morris">Huw R. Morris</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="eISSN">1531-8257</idno><imprint><date when="2012" type="published">2012</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Cohort Studies</term><term>DNA Mutational Analysis</term><term>Female</term><term>Great Britain (epidemiology)</term><term>Humans</term><term>Intracellular Signaling Peptides and Proteins (genetics)</term><term>Male</term><term>Mutation (genetics)</term><term>Oncogene Proteins (genetics)</term><term>Parkinson Disease (epidemiology)</term><term>Parkinson Disease (genetics)</term><term>Protein Kinases (genetics)</term><term>Protein-Serine-Threonine Kinases (genetics)</term><term>Ubiquitin-Protein Ligases (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Intracellular Signaling Peptides and Proteins</term><term>Oncogene Proteins</term><term>Protein Kinases</term><term>Protein-Serine-Threonine Kinases</term><term>Ubiquitin-Protein Ligases</term></keywords><keywords scheme="MESH" type="geographic" qualifier="epidemiology" xml:lang="en"><term>Great Britain</term></keywords><keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Mutation</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Cohort Studies</term><term>DNA Mutational Analysis</term><term>Female</term><term>Humans</term><term>Male</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Approximately 3.6% of patients with Parkinson's disease develop symptoms before age 45. Early-onset Parkinson's disease (EOPD) patients have a higher familial recurrence risk than late-onset patients, and 3 main recessive EOPD genes have been described. We aimed to establish the prevalence of mutations in these genes in a UK cohort and in previous studies. We screened 136 EOPD probands from a high-ascertainment regional and community-based prevalence study for pathogenic mutations in PARK2 (parkin), PINK1, PARK7 (DJ-1), and exon 41 of LRRK2. We also carried out a systematic review, calculating the proportion of cases with pathogenic mutations in previously reported studies. We identified 5 patients with pathogenic PARK2, 1 patient with PINK1, and 1 with LRRK2 mutations. The rate of mutations overall was 5.1%. Mutations were more common in patients with age at onset (AAO) < 40 (9.5%), an affected first-degree relative (6.9%), an affected sibling (28.6%), or parental consanguinity (50%). In our study EOPD mutation carriers were more likely to present with rigidity and dystonia, and 6 of 7 mutation carriers had lower limb symptoms at onset. Our systematic review included information from >5800 unique cases. Overall, the weighted mean proportion of cases with PARK2 (parkin), PINK1, and PARK7 (DJ-1) mutations was 8.6%, 3.7%, and 0.4%, respectively. PINK1 mutations were more common in Asian subjects. The overall frequency of mutations in known EOPD genes was lower than previously estimated. Our study shows an increased likelihood of mutations in patients with lower AAO, family history, or parental consanguinity.</div></front></TEI><affiliations><list><country><li>Royaume-Uni</li></country></list><tree><noCountry><name sortKey="Barker, Roger A" sort="Barker, Roger A" uniqKey="Barker R" first="Roger A" last="Barker">Roger A. Barker</name><name sortKey="Ben Shlomo, Yoav" sort="Ben Shlomo, Yoav" uniqKey="Ben Shlomo Y" first="Yoav" last="Ben-Shlomo">Yoav Ben-Shlomo</name><name sortKey="Burn, David J" sort="Burn, David J" uniqKey="Burn D" first="David J" last="Burn">David J. Burn</name><name sortKey="Chinnery, Patrick F" sort="Chinnery, Patrick F" uniqKey="Chinnery P" first="Patrick F" last="Chinnery">Patrick F. Chinnery</name><name sortKey="Clarke, Carl E" sort="Clarke, Carl E" uniqKey="Clarke C" first="Carl E" last="Clarke">Carl E. Clarke</name><name sortKey="Evans, Jonathan R" sort="Evans, Jonathan R" uniqKey="Evans J" first="Jonathan R" last="Evans">Jonathan R. Evans</name><name sortKey="Knipe, M Duleeka W" sort="Knipe, M Duleeka W" uniqKey="Knipe M" first="M Duleeka W" last="Knipe">M Duleeka W. Knipe</name><name sortKey="Lewthwaite, Alistair J" sort="Lewthwaite, Alistair J" uniqKey="Lewthwaite A" first="Alistair J" last="Lewthwaite">Alistair J. Lewthwaite</name><name sortKey="Majounie, Elisa" sort="Majounie, Elisa" uniqKey="Majounie E" first="Elisa" last="Majounie">Elisa Majounie</name><name sortKey="Marion, Marie Helene" sort="Marion, Marie Helene" uniqKey="Marion M" first="Marie-Helene" last="Marion">Marie-Helene Marion</name><name sortKey="Misbahuddin, Anjum" sort="Misbahuddin, Anjum" uniqKey="Misbahuddin A" first="Anjum" last="Misbahuddin">Anjum Misbahuddin</name><name sortKey="Morris, Huw R" sort="Morris, Huw R" uniqKey="Morris H" first="Huw R" last="Morris">Huw R. Morris</name><name sortKey="Morrison, Karen E" sort="Morrison, Karen E" uniqKey="Morrison K" first="Karen E" last="Morrison">Karen E. Morrison</name><name sortKey="Newsway, Victoria" sort="Newsway, Victoria" uniqKey="Newsway V" first="Victoria" last="Newsway">Victoria Newsway</name><name sortKey="Nicholl, David J" sort="Nicholl, David J" uniqKey="Nicholl D" first="David J" last="Nicholl">David J. Nicholl</name><name sortKey="Pearson, Justin P" sort="Pearson, Justin P" uniqKey="Pearson J" first="Justin P" last="Pearson">Justin P. Pearson</name><name sortKey="Sawcer, Stephen J" sort="Sawcer, Stephen J" uniqKey="Sawcer S" first="Stephen J" last="Sawcer">Stephen J. Sawcer</name><name sortKey="Wickremaratchi, Mirdhu M" sort="Wickremaratchi, Mirdhu M" uniqKey="Wickremaratchi M" first="Mirdhu M" last="Wickremaratchi">Mirdhu M. Wickremaratchi</name><name sortKey="Williams Gray, Caroline H" sort="Williams Gray, Caroline H" uniqKey="Williams Gray C" first="Caroline H" last="Williams-Gray">Caroline H. Williams-Gray</name><name sortKey="Williams, Nigel M" sort="Williams, Nigel M" uniqKey="Williams N" first="Nigel M" last="Williams">Nigel M. Williams</name><name sortKey="Wood, Nicholas W" sort="Wood, Nicholas W" uniqKey="Wood N" first="Nicholas W" last="Wood">Nicholas W. Wood</name></noCountry><country name="Royaume-Uni"><noRegion><name sortKey="Kilarski, Laura L" sort="Kilarski, Laura L" uniqKey="Kilarski L" first="Laura L" last="Kilarski">Laura L. Kilarski</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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