Motor phenotype of LRRK2-associated Parkinson's disease: a Tunisian longitudinal study.
Identifieur interne : 000166 ( Main/Exploration ); précédent : 000165; suivant : 000167Motor phenotype of LRRK2-associated Parkinson's disease: a Tunisian longitudinal study.
Auteurs : Fatma Nabli [Tunisie] ; Samia Ben Sassi ; Rim Amouri ; John E. Duda ; Matthew J. Farrer ; Fayçal HentatiSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2015.
Descripteurs français
- Wicri :
- geographic : Tunisie.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Protein-Serine-Threonine Kinases.
- geographic : Tunisia.
- genetics : Mutation, Parkinson Disease.
- physiology : Gait.
- Adult, Aged, Aged, 80 and over, Female, Genetic Predisposition to Disease, Humans, Longitudinal Studies, Male, Middle Aged, Phenotype.
Abstract
Mutations in the leucine-rich repeat kinase 2 gene (LRRK2) were found to be a significant cause of late-onset autosomal dominant forms of Parkinson's disease (PD). To determine the motor characteristics of LRRK2-related disease, we conducted a longitudinal study of 58 G2019S LRRK2-associated PD patients and compared them with genetically undefined (GU) PD patients. Fifty-eight patients diagnosed with PD-related LRRK2 G2019S mutation were included in the study and compared with 54 sporadic PD patients with negative tests for LRRK2 G2019S, PINK1, SNCA, PRKN, and DJ1 mutations. Patients were assessed at baseline and after a follow-up period of 6 years. The Movement Disorder Society-Unified Parkinson's Disease Rating Scale (MDS-UPDRS), the Hoehn and Yahr, and the Schwab and England scores were determined. Logistic regression was used to examine associations of G2019S mutation status with motor phenotype and rate of motor decline. The LRRK2-associated PD patients had a mean age of onset of 56.25 ± 12.05 years and in most cases (58.6%) a postural instability gait difficulty (PIGD) phenotype. The mean annual decline in the MDS-UDRS III motor score and the Hoehn and Yahr staging was of 1.3% and 2%, respectively. The PIGD phenotype predicted a more rapid progression of motor impairment. The PD motor phenotype and motor scores were similar in the LRRK2-associated PD group and in the GU PD group, with no significant differences in the progression rate of motor impairment. Motor phenotype seems to be similar in LRRK2-related PD and idiopathic PD.
DOI: 10.1002/mds.26097
PubMed: 25487881
Affiliations:
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Duda</name></author><author><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J" last="Farrer">Matthew J. Farrer</name></author><author><name sortKey="Hentati, Faycal" sort="Hentati, Faycal" uniqKey="Hentati F" first="Fayçal" last="Hentati">Fayçal Hentati</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2015">2015</date><idno type="RBID">pubmed:25487881</idno><idno type="pmid">25487881</idno><idno type="doi">10.1002/mds.26097</idno><idno type="wicri:Area/PubMed/Corpus">000319</idno><idno type="wicri:Area/PubMed/Curation">000319</idno><idno type="wicri:Area/PubMed/Checkpoint">000166</idno><idno type="wicri:Area/Ncbi/Merge">004190</idno><idno type="wicri:Area/Ncbi/Curation">004190</idno><idno type="wicri:Area/Ncbi/Checkpoint">004190</idno><idno type="wicri:Area/Main/Merge">000166</idno><idno type="wicri:Area/Main/Curation">000166</idno><idno type="wicri:Area/Main/Exploration">000166</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Motor phenotype of LRRK2-associated Parkinson's disease: a Tunisian longitudinal study.</title><author><name sortKey="Nabli, Fatma" sort="Nabli, Fatma" uniqKey="Nabli F" first="Fatma" last="Nabli">Fatma Nabli</name><affiliation wicri:level="1"><nlm:affiliation>Neurology Department, National Institute Mongi Ben Hmida of Neurology, Faculty of Medicine of Tunis, University Tunis El Manar, Tunis, Tunisia.</nlm:affiliation><country xml:lang="fr">Tunisie</country><wicri:regionArea>Neurology Department, National Institute Mongi Ben Hmida of Neurology, Faculty of Medicine of Tunis, University Tunis El Manar, Tunis</wicri:regionArea><wicri:noRegion>Tunis</wicri:noRegion></affiliation></author><author><name sortKey="Ben Sassi, Samia" sort="Ben Sassi, Samia" uniqKey="Ben Sassi S" first="Samia" last="Ben Sassi">Samia Ben Sassi</name></author><author><name sortKey="Amouri, Rim" sort="Amouri, Rim" uniqKey="Amouri R" first="Rim" last="Amouri">Rim Amouri</name></author><author><name sortKey="Duda, John E" sort="Duda, John E" uniqKey="Duda J" first="John E" last="Duda">John E. Duda</name></author><author><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J" last="Farrer">Matthew J. Farrer</name></author><author><name sortKey="Hentati, Faycal" sort="Hentati, Faycal" uniqKey="Hentati F" first="Fayçal" last="Hentati">Fayçal Hentati</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="2015" type="published">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Aged</term><term>Aged, 80 and over</term><term>Female</term><term>Gait (physiology)</term><term>Genetic Predisposition to Disease</term><term>Humans</term><term>Longitudinal Studies</term><term>Male</term><term>Middle Aged</term><term>Mutation (genetics)</term><term>Parkinson Disease (genetics)</term><term>Phenotype</term><term>Protein-Serine-Threonine Kinases (genetics)</term><term>Tunisia</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Protein-Serine-Threonine Kinases</term></keywords><keywords scheme="MESH" type="geographic" xml:lang="en"><term>Tunisia</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Mutation</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="physiology" xml:lang="en"><term>Gait</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Aged</term><term>Aged, 80 and over</term><term>Female</term><term>Genetic Predisposition to Disease</term><term>Humans</term><term>Longitudinal Studies</term><term>Male</term><term>Middle Aged</term><term>Phenotype</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Tunisie</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Mutations in the leucine-rich repeat kinase 2 gene (LRRK2) were found to be a significant cause of late-onset autosomal dominant forms of Parkinson's disease (PD). To determine the motor characteristics of LRRK2-related disease, we conducted a longitudinal study of 58 G2019S LRRK2-associated PD patients and compared them with genetically undefined (GU) PD patients. Fifty-eight patients diagnosed with PD-related LRRK2 G2019S mutation were included in the study and compared with 54 sporadic PD patients with negative tests for LRRK2 G2019S, PINK1, SNCA, PRKN, and DJ1 mutations. Patients were assessed at baseline and after a follow-up period of 6 years. The Movement Disorder Society-Unified Parkinson's Disease Rating Scale (MDS-UPDRS), the Hoehn and Yahr, and the Schwab and England scores were determined. Logistic regression was used to examine associations of G2019S mutation status with motor phenotype and rate of motor decline. The LRRK2-associated PD patients had a mean age of onset of 56.25 ± 12.05 years and in most cases (58.6%) a postural instability gait difficulty (PIGD) phenotype. The mean annual decline in the MDS-UDRS III motor score and the Hoehn and Yahr staging was of 1.3% and 2%, respectively. The PIGD phenotype predicted a more rapid progression of motor impairment. The PD motor phenotype and motor scores were similar in the LRRK2-associated PD group and in the GU PD group, with no significant differences in the progression rate of motor impairment. Motor phenotype seems to be similar in LRRK2-related PD and idiopathic PD.</div></front></TEI><affiliations><list><country><li>Tunisie</li></country></list><tree><noCountry><name sortKey="Amouri, Rim" sort="Amouri, Rim" uniqKey="Amouri R" first="Rim" last="Amouri">Rim Amouri</name><name sortKey="Ben Sassi, Samia" sort="Ben Sassi, Samia" uniqKey="Ben Sassi S" first="Samia" last="Ben Sassi">Samia Ben Sassi</name><name sortKey="Duda, John E" sort="Duda, John E" uniqKey="Duda J" first="John E" last="Duda">John E. Duda</name><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J" last="Farrer">Matthew J. Farrer</name><name sortKey="Hentati, Faycal" sort="Hentati, Faycal" uniqKey="Hentati F" first="Fayçal" last="Hentati">Fayçal Hentati</name></noCountry><country name="Tunisie"><noRegion><name sortKey="Nabli, Fatma" sort="Nabli, Fatma" uniqKey="Nabli F" first="Fatma" last="Nabli">Fatma Nabli</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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