Familial Parkinsonism and early onset Parkinson's disease in a Brazilian movement disorders clinic: phenotypic characterization and frequency of SNCA, PRKN, PINK1, and LRRK2 mutations.
Identifieur interne : 001E31 ( PubMed/Corpus ); précédent : 001E30; suivant : 001E32Familial Parkinsonism and early onset Parkinson's disease in a Brazilian movement disorders clinic: phenotypic characterization and frequency of SNCA, PRKN, PINK1, and LRRK2 mutations.
Auteurs : Sarah Teixeira Camargos ; Leonardo Oliveira Dornas ; Parastoo Momeni ; Andrew Lees ; John Hardy ; Andrew Singleton ; Francisco CardosoSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2009.
English descriptors
- KwdEn :
- Adult, Age of Onset, Aged, Amino Acids (genetics), Brazil (epidemiology), DNA Mutational Analysis, Female, Genetic Predisposition to Disease, Genotype, Humans, Male, Middle Aged, Molecular Sequence Data, Mutation (genetics), Parkinson Disease (genetics), Parkinsonian Disorders (genetics), Phenotype, Protein Kinases (genetics), Protein-Serine-Threonine Kinases (genetics), Ubiquitin-Protein Ligases (genetics), alpha-Synuclein (genetics).
- MESH :
- chemical , genetics : Amino Acids, Protein Kinases, Protein-Serine-Threonine Kinases, Ubiquitin-Protein Ligases, alpha-Synuclein.
- geographic , epidemiology : Brazil.
- genetics : Mutation, Parkinson Disease, Parkinsonian Disorders.
- Adult, Age of Onset, Aged, DNA Mutational Analysis, Female, Genetic Predisposition to Disease, Genotype, Humans, Male, Middle Aged, Molecular Sequence Data, Phenotype.
Abstract
The aim of the study was to evaluate the frequency and to perform phenotypic and genotypic characterization of familial Parkinsonism and early onset Parkinson's disease (EOPD) in a Brazilian movement disorder unit. We performed a standardized clinical assessment of patients followed by sequencing of PRKN, PINK1 in EOPD cases and SNCA, LRRK2 in familial Parkinsonism individuals. During the period of study (January through December, 2006), we examined 575 consecutive patients of whom 226 (39.3%) met the diagnosis of Parkinsonism and idiopathic Parkinson's disease (IPD) was diagnosed in 202 of the latter. Of the IPD cases, 45 (22.3%) had EOPD. The age at onset in the EOPD cases (n = 45) was 34.8 +/- 5.4 years (mean +/- standard deviation). The age at onset in the familial late-onset PD patients (n = 8) was 52.3 +/- 12.2 years. In the early onset cases, we identified five known mutations in PRKN, two single heterozygous and three compound heterozygous (P153R, T240M, 255Adel, W54R, V3I); in addition, we identified one novel mutation in PINK1 (homozygous deletion of exon 7). In the familial cases (late onset), 1 patient had a novel LRRK2 variant, Q923H, but no SNCA mutations were identified. We have demonstrated that EOPD accounts for a high frequency of IPD cases in our tertiary referral center. PRKN was the most commonly mutated gene, but we also identified a novel mutation in PINK1 and a novel variant in LRRK2.
DOI: 10.1002/mds.22365
PubMed: 19205068
Links to Exploration step
pubmed:19205068Le document en format XML
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sort="Lees, Andrew" uniqKey="Lees A" first="Andrew" last="Lees">Andrew Lees</name></author><author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name></author><author><name sortKey="Singleton, Andrew" sort="Singleton, Andrew" uniqKey="Singleton A" first="Andrew" last="Singleton">Andrew Singleton</name></author><author><name sortKey="Cardoso, Francisco" sort="Cardoso, Francisco" uniqKey="Cardoso F" first="Francisco" last="Cardoso">Francisco Cardoso</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2009">2009</date><idno type="doi">10.1002/mds.22365</idno><idno type="RBID">pubmed:19205068</idno><idno type="pmid">19205068</idno><idno type="wicri:Area/PubMed/Corpus">001E31</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Familial Parkinsonism and early onset Parkinson's disease in a Brazilian movement disorders clinic: phenotypic characterization and frequency of SNCA, PRKN, PINK1, and LRRK2 mutations.</title><author><name sortKey="Camargos, Sarah Teixeira" sort="Camargos, Sarah Teixeira" uniqKey="Camargos S" first="Sarah Teixeira" last="Camargos">Sarah Teixeira Camargos</name><affiliation><nlm:affiliation>Movement Disorders Group, Neurology Service, Department of Internal Medicine, Federal University of Minas Gerais, Minas Gerais, Brazil.</nlm:affiliation></affiliation></author><author><name sortKey="Dornas, Leonardo Oliveira" sort="Dornas, Leonardo Oliveira" uniqKey="Dornas L" first="Leonardo Oliveira" last="Dornas">Leonardo Oliveira Dornas</name></author><author><name sortKey="Momeni, Parastoo" sort="Momeni, Parastoo" uniqKey="Momeni P" first="Parastoo" last="Momeni">Parastoo Momeni</name></author><author><name sortKey="Lees, Andrew" sort="Lees, Andrew" uniqKey="Lees A" first="Andrew" last="Lees">Andrew Lees</name></author><author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name></author><author><name sortKey="Singleton, Andrew" sort="Singleton, Andrew" uniqKey="Singleton A" first="Andrew" last="Singleton">Andrew Singleton</name></author><author><name sortKey="Cardoso, Francisco" sort="Cardoso, Francisco" uniqKey="Cardoso F" first="Francisco" last="Cardoso">Francisco Cardoso</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="2009" type="published">2009</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>Amino Acids (genetics)</term><term>Brazil (epidemiology)</term><term>DNA Mutational Analysis</term><term>Female</term><term>Genetic Predisposition to Disease</term><term>Genotype</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Molecular Sequence Data</term><term>Mutation (genetics)</term><term>Parkinson Disease (genetics)</term><term>Parkinsonian Disorders (genetics)</term><term>Phenotype</term><term>Protein Kinases (genetics)</term><term>Protein-Serine-Threonine Kinases (genetics)</term><term>Ubiquitin-Protein Ligases (genetics)</term><term>alpha-Synuclein (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Amino Acids</term><term>Protein Kinases</term><term>Protein-Serine-Threonine Kinases</term><term>Ubiquitin-Protein Ligases</term><term>alpha-Synuclein</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>Mutation</term><term>Parkinson Disease</term><term>Parkinsonian Disorders</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Age of Onset</term><term>Aged</term><term>DNA Mutational Analysis</term><term>Female</term><term>Genetic Predisposition to Disease</term><term>Genotype</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Molecular Sequence Data</term><term>Phenotype</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The aim of the study was to evaluate the frequency and to perform phenotypic and genotypic characterization of familial Parkinsonism and early onset Parkinson's disease (EOPD) in a Brazilian movement disorder unit. We performed a standardized clinical assessment of patients followed by sequencing of PRKN, PINK1 in EOPD cases and SNCA, LRRK2 in familial Parkinsonism individuals. During the period of study (January through December, 2006), we examined 575 consecutive patients of whom 226 (39.3%) met the diagnosis of Parkinsonism and idiopathic Parkinson's disease (IPD) was diagnosed in 202 of the latter. Of the IPD cases, 45 (22.3%) had EOPD. The age at onset in the EOPD cases (n = 45) was 34.8 +/- 5.4 years (mean +/- standard deviation). The age at onset in the familial late-onset PD patients (n = 8) was 52.3 +/- 12.2 years. In the early onset cases, we identified five known mutations in PRKN, two single heterozygous and three compound heterozygous (P153R, T240M, 255Adel, W54R, V3I); in addition, we identified one novel mutation in PINK1 (homozygous deletion of exon 7). In the familial cases (late onset), 1 patient had a novel LRRK2 variant, Q923H, but no SNCA mutations were identified. We have demonstrated that EOPD accounts for a high frequency of IPD cases in our tertiary referral center. PRKN was the most commonly mutated gene, but we also identified a novel mutation in PINK1 and a novel variant in LRRK2.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">19205068</PMID><DateCreated><Year>2009</Year><Month>05</Month><Day>04</Day></DateCreated><DateCompleted><Year>2009</Year><Month>07</Month><Day>28</Day></DateCompleted><DateRevised><Year>2015</Year><Month>03</Month><Day>25</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN><JournalIssue CitedMedium="Internet"><Volume>24</Volume><Issue>5</Issue><PubDate><Year>2009</Year><Month>Apr</Month><Day>15</Day></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Familial Parkinsonism and early onset Parkinson's disease in a Brazilian movement disorders clinic: phenotypic characterization and frequency of SNCA, PRKN, PINK1, and LRRK2 mutations.</ArticleTitle><Pagination><MedlinePgn>662-6</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.22365</ELocationID><Abstract><AbstractText>The aim of the study was to evaluate the frequency and to perform phenotypic and genotypic characterization of familial Parkinsonism and early onset Parkinson's disease (EOPD) in a Brazilian movement disorder unit. We performed a standardized clinical assessment of patients followed by sequencing of PRKN, PINK1 in EOPD cases and SNCA, LRRK2 in familial Parkinsonism individuals. During the period of study (January through December, 2006), we examined 575 consecutive patients of whom 226 (39.3%) met the diagnosis of Parkinsonism and idiopathic Parkinson's disease (IPD) was diagnosed in 202 of the latter. Of the IPD cases, 45 (22.3%) had EOPD. The age at onset in the EOPD cases (n = 45) was 34.8 +/- 5.4 years (mean +/- standard deviation). The age at onset in the familial late-onset PD patients (n = 8) was 52.3 +/- 12.2 years. In the early onset cases, we identified five known mutations in PRKN, two single heterozygous and three compound heterozygous (P153R, T240M, 255Adel, W54R, V3I); in addition, we identified one novel mutation in PINK1 (homozygous deletion of exon 7). In the familial cases (late onset), 1 patient had a novel LRRK2 variant, Q923H, but no SNCA mutations were identified. We have demonstrated that EOPD accounts for a high frequency of IPD cases in our tertiary referral center. PRKN was the most commonly mutated gene, but we also identified a novel mutation in PINK1 and a novel variant in LRRK2.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Camargos</LastName><ForeName>Sarah Teixeira</ForeName><Initials>ST</Initials><AffiliationInfo><Affiliation>Movement Disorders Group, Neurology Service, Department of Internal Medicine, Federal University of Minas Gerais, Minas Gerais, Brazil.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Dornas</LastName><ForeName>Leonardo Oliveira</ForeName><Initials>LO</Initials></Author><Author ValidYN="Y"><LastName>Momeni</LastName><ForeName>Parastoo</ForeName><Initials>P</Initials></Author><Author ValidYN="Y"><LastName>Lees</LastName><ForeName>Andrew</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Hardy</LastName><ForeName>John</ForeName><Initials>J</Initials></Author><Author ValidYN="Y"><LastName>Singleton</LastName><ForeName>Andrew</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Cardoso</LastName><ForeName>Francisco</ForeName><Initials>F</Initials></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>G-0907</GrantID><Agency>Parkinson's UK</Agency><Country>United Kingdom</Country></Grant><Grant><GrantID>G0701075</GrantID><Agency>Medical Research Council</Agency><Country>United Kingdom</Country></Grant><Grant><GrantID>Z01 AG000957-05</GrantID><Agency>Intramural NIH HHS</Agency><Country>United States</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D052060">Research Support, N.I.H., Intramural</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov 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