The G2019S LRRK2 mutation in Brazilian patients with Parkinson's disease: phenotype in monozygotic twins.
Identifieur interne : 001F23 ( Ncbi/Checkpoint ); précédent : 001F22; suivant : 001F24The G2019S LRRK2 mutation in Brazilian patients with Parkinson's disease: phenotype in monozygotic twins.
Auteurs : Renato P. Munhoz [Brésil] ; Yosuke Wakutani ; Connie Marras ; Helio A. Teive ; Salmo Raskin ; Lineu C. Werneck ; Danielle Moreno ; Christine Sato ; Anthony E. Lang ; Ekaterina RogaevaSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2008.
Descripteurs français
- Wicri :
- geographic : Brésil.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Glycine, Protein-Serine-Threonine Kinases, Serine.
- geographic , epidemiology : Brazil.
- genetics : Parkinson Disease.
- Adult, Age of Onset, Aged, Aged, 80 and over, Diseases in Twins, Female, Humans, Male, Middle Aged, Mutation, Phenotype, Twins, Monozygotic.
Abstract
Mutations in the Leucine-Rich Repeat Kinase 2 gene (LRRK2) are mainly responsible for idiopathic Parkinson's disease (PD) with either a dominant pattern of transmission or a sporadic occurrence due to the reduced penetrance. A majority of LRRK2 kindreds demonstrate an extremely variable age-at-onset in affected members of the same family. The G2019S is the most common LRRK2 mutation, which accounts for 1-5% PD patients in North America, and up to 40% of patients from an isolated Arab population. We assessed the frequency of the G2019S mutation in 83 Brazilian PD patients originally preselected for having an early age-at-onset (<50 years) and/or a positive family history. The mutation was detected in three probands (3.5%). Our clinical findings in these kindreds include the first description of the phenotype in identical twins discordant for handedness (a general phenomenon found in approximately 25% monozygotic twins). However, both twins developed right asymmetric PD. The clinical presentation of twins was strikingly similar including an identical PD onset at age 60. This observation may suggest that genetic factors predominantly determine age-at-onset.
DOI: 10.1002/mds.21832
PubMed: 17999435
Affiliations:
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Munhoz</name><affiliation wicri:level="2"><nlm:affiliation>Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, PR, Brazil.</nlm:affiliation><country xml:lang="fr">Brésil</country><wicri:regionArea>Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, PR</wicri:regionArea><placeName><region type="state">Paraná (État)</region></placeName></affiliation></author><author><name sortKey="Wakutani, Yosuke" sort="Wakutani, Yosuke" uniqKey="Wakutani Y" first="Yosuke" last="Wakutani">Yosuke Wakutani</name></author><author><name sortKey="Marras, Connie" sort="Marras, Connie" uniqKey="Marras C" first="Connie" last="Marras">Connie Marras</name></author><author><name sortKey="Teive, Helio A" sort="Teive, Helio A" uniqKey="Teive H" first="Helio A" last="Teive">Helio A. Teive</name></author><author><name sortKey="Raskin, Salmo" sort="Raskin, Salmo" uniqKey="Raskin S" first="Salmo" last="Raskin">Salmo Raskin</name></author><author><name sortKey="Werneck, Lineu C" sort="Werneck, Lineu C" uniqKey="Werneck L" first="Lineu C" last="Werneck">Lineu C. Werneck</name></author><author><name sortKey="Moreno, Danielle" sort="Moreno, Danielle" uniqKey="Moreno D" first="Danielle" last="Moreno">Danielle Moreno</name></author><author><name sortKey="Sato, Christine" sort="Sato, Christine" uniqKey="Sato C" first="Christine" last="Sato">Christine Sato</name></author><author><name sortKey="Lang, Anthony E" sort="Lang, Anthony E" uniqKey="Lang A" first="Anthony E" last="Lang">Anthony E. Lang</name></author><author><name sortKey="Rogaeva, Ekaterina" sort="Rogaeva, Ekaterina" uniqKey="Rogaeva E" first="Ekaterina" last="Rogaeva">Ekaterina Rogaeva</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2008">2008</date><idno type="doi">10.1002/mds.21832</idno><idno type="RBID">pubmed:17999435</idno><idno type="pmid">17999435</idno><idno type="wicri:Area/PubMed/Corpus">002436</idno><idno type="wicri:Area/PubMed/Curation">002436</idno><idno type="wicri:Area/PubMed/Checkpoint">002058</idno><idno type="wicri:Area/Ncbi/Merge">001F23</idno><idno type="wicri:Area/Ncbi/Curation">001F23</idno><idno type="wicri:Area/Ncbi/Checkpoint">001F23</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">The G2019S LRRK2 mutation in Brazilian patients with Parkinson's disease: phenotype in monozygotic twins.</title><author><name sortKey="Munhoz, Renato P" sort="Munhoz, Renato P" uniqKey="Munhoz R" first="Renato P" last="Munhoz">Renato P. Munhoz</name><affiliation wicri:level="2"><nlm:affiliation>Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, PR, Brazil.</nlm:affiliation><country xml:lang="fr">Brésil</country><wicri:regionArea>Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, PR</wicri:regionArea><placeName><region type="state">Paraná (État)</region></placeName></affiliation></author><author><name sortKey="Wakutani, Yosuke" sort="Wakutani, Yosuke" uniqKey="Wakutani Y" first="Yosuke" last="Wakutani">Yosuke Wakutani</name></author><author><name sortKey="Marras, Connie" sort="Marras, Connie" uniqKey="Marras C" first="Connie" last="Marras">Connie Marras</name></author><author><name sortKey="Teive, Helio A" sort="Teive, Helio A" uniqKey="Teive H" first="Helio A" last="Teive">Helio A. Teive</name></author><author><name sortKey="Raskin, Salmo" sort="Raskin, Salmo" uniqKey="Raskin S" first="Salmo" last="Raskin">Salmo Raskin</name></author><author><name sortKey="Werneck, Lineu C" sort="Werneck, Lineu C" uniqKey="Werneck L" first="Lineu C" last="Werneck">Lineu C. Werneck</name></author><author><name sortKey="Moreno, Danielle" sort="Moreno, Danielle" uniqKey="Moreno D" first="Danielle" last="Moreno">Danielle Moreno</name></author><author><name sortKey="Sato, Christine" sort="Sato, Christine" uniqKey="Sato C" first="Christine" last="Sato">Christine Sato</name></author><author><name sortKey="Lang, Anthony E" sort="Lang, Anthony E" uniqKey="Lang A" first="Anthony E" last="Lang">Anthony E. Lang</name></author><author><name sortKey="Rogaeva, Ekaterina" sort="Rogaeva, Ekaterina" uniqKey="Rogaeva E" first="Ekaterina" last="Rogaeva">Ekaterina Rogaeva</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="2008" type="published">2008</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Age of Onset</term><term>Aged</term><term>Aged, 80 and over</term><term>Brazil (epidemiology)</term><term>Diseases in Twins</term><term>Female</term><term>Glycine (genetics)</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Mutation</term><term>Parkinson Disease (genetics)</term><term>Phenotype</term><term>Protein-Serine-Threonine Kinases (genetics)</term><term>Serine (genetics)</term><term>Twins, Monozygotic</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Glycine</term><term>Protein-Serine-Threonine Kinases</term><term>Serine</term></keywords><keywords scheme="MESH" type="geographic" qualifier="epidemiology" xml:lang="en"><term>Brazil</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Age of Onset</term><term>Aged</term><term>Aged, 80 and over</term><term>Diseases in Twins</term><term>Female</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Mutation</term><term>Phenotype</term><term>Twins, Monozygotic</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Brésil</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Mutations in the Leucine-Rich Repeat Kinase 2 gene (LRRK2) are mainly responsible for idiopathic Parkinson's disease (PD) with either a dominant pattern of transmission or a sporadic occurrence due to the reduced penetrance. A majority of LRRK2 kindreds demonstrate an extremely variable age-at-onset in affected members of the same family. The G2019S is the most common LRRK2 mutation, which accounts for 1-5% PD patients in North America, and up to 40% of patients from an isolated Arab population. We assessed the frequency of the G2019S mutation in 83 Brazilian PD patients originally preselected for having an early age-at-onset (<50 years) and/or a positive family history. The mutation was detected in three probands (3.5%). Our clinical findings in these kindreds include the first description of the phenotype in identical twins discordant for handedness (a general phenomenon found in approximately 25% monozygotic twins). However, both twins developed right asymmetric PD. The clinical presentation of twins was strikingly similar including an identical PD onset at age 60. This observation may suggest that genetic factors predominantly determine age-at-onset.</div></front></TEI><affiliations><list><country><li>Brésil</li></country><region><li>Paraná (État)</li></region></list><tree><noCountry><name sortKey="Lang, Anthony E" sort="Lang, Anthony E" uniqKey="Lang A" first="Anthony E" last="Lang">Anthony E. Lang</name><name sortKey="Marras, Connie" sort="Marras, Connie" uniqKey="Marras C" first="Connie" last="Marras">Connie Marras</name><name sortKey="Moreno, Danielle" sort="Moreno, Danielle" uniqKey="Moreno D" first="Danielle" last="Moreno">Danielle Moreno</name><name sortKey="Raskin, Salmo" sort="Raskin, Salmo" uniqKey="Raskin S" first="Salmo" last="Raskin">Salmo Raskin</name><name sortKey="Rogaeva, Ekaterina" sort="Rogaeva, Ekaterina" uniqKey="Rogaeva E" first="Ekaterina" last="Rogaeva">Ekaterina Rogaeva</name><name sortKey="Sato, Christine" sort="Sato, Christine" uniqKey="Sato C" first="Christine" last="Sato">Christine Sato</name><name sortKey="Teive, Helio A" sort="Teive, Helio A" uniqKey="Teive H" first="Helio A" last="Teive">Helio A. Teive</name><name sortKey="Wakutani, Yosuke" sort="Wakutani, Yosuke" uniqKey="Wakutani Y" first="Yosuke" last="Wakutani">Yosuke Wakutani</name><name sortKey="Werneck, Lineu C" sort="Werneck, Lineu C" uniqKey="Werneck L" first="Lineu C" last="Werneck">Lineu C. Werneck</name></noCountry><country name="Brésil"><region name="Paraná (État)"><name sortKey="Munhoz, Renato P" sort="Munhoz, Renato P" uniqKey="Munhoz R" first="Renato P" last="Munhoz">Renato P. Munhoz</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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