Prevalence of spinocerebellar ataxia type 2 mutation among Italian Parkinsonian patients
Identifieur interne : 002C52 ( Main/Exploration ); précédent : 002C51; suivant : 002C53Prevalence of spinocerebellar ataxia type 2 mutation among Italian Parkinsonian patients
Auteurs : Anna Modoni [Italie] ; Maria Fiorella Contarino [Italie] ; Anna Rita Bentivoglio [Italie] ; Elisabetta Tabolacci [Italie] ; Massimo Santoro [Italie] ; Maria Lucia Calcagni [Italie] ; Pietro A. Tonali [Italie] ; Giovanni Neri [Italie] ; Gabriella Silvestri [Italie]Source :
- Movement Disorders [ 0885-3185 ] ; 2007-02-15.
Descripteurs français
- Pascal (Inist)
- Wicri :
English descriptors
- KwdEn :
- CAG repeats, Family Health, Female, Human, Humans, Italian, Italy (epidemiology), Magnetic Resonance Imaging, Male, Mutation, Nerve Tissue Proteins (genetics), Nervous system diseases, Parkinson Disease (epidemiology), Parkinson Disease (genetics), Parkinson Disease (pathology), Parkinson Disease (radionuclide imaging), Parkinson disease, Parkinson's disease, Prevalence, SCA2, Spinocerebellar ataxia, Trinucleotide Repeat Expansion (genetics), Tropanes (metabolism).
- MESH :
- chemical , genetics : Nerve Tissue Proteins.
- geographic , epidemiology : Italy.
- epidemiology : Parkinson Disease.
- genetics : Parkinson Disease, Trinucleotide Repeat Expansion.
- chemical , metabolism : Tropanes.
- pathology : Parkinson Disease.
- radionuclide imaging : Parkinson Disease.
- Family Health, Female, Humans, Magnetic Resonance Imaging, Male, Mutation.
Abstract
We evaluated the prevalence of the SCA2 mutation among 224 Italian patients affected by typical Parkinsonism, including 145 sporadic and 79 familial forms. Pink1, Parkin, and LRRK2 gene mutations had been excluded previously. Molecular testing for the CAG expansion at the SCA 2 locus was performed on leukocyte DNA. Cloning and sequencing of the expanded allele was performed in patients positive for the SCA2 expansion. A 38 CAG expansion was detected in 1 of 79 families studied. The proband, a male age 67, and his sister, age 69, were both affected by a benign form of L‐dopa–responsive Parkinsonism not associated with cerebellar signs. The inheritance was autosomal dominant. The CAG expansion was stable through meiotic transmission: sequence analysis showed that the CAG stretch was interrupted by 3 CAA. Our study shows that CAG expansion at the SCA 2 locus may represent a genetic cause of familial L‐dopa–responsive Parkinsonism among Italian patients. The stability of the pathological CAG expansion detected in this family was related to the presence of CAA interruptions. These findings, together with literature data, suggest that the molecular intrinsic structure of the expanded allele may modulate the phenotypic expression of the SCA2 mutation. © 2006 Movement Disorder Society
Url:
DOI: 10.1002/mds.21228
Affiliations:
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Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2007-02-15">2007-02-15</date><biblScope unit="vol">22</biblScope><biblScope unit="issue">3</biblScope><biblScope unit="page" from="324">324</biblScope><biblScope unit="page" to="327">327</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">CB3C9D6C025E78A5392FBAF573670A4F2AE21223</idno><idno type="DOI">10.1002/mds.21228</idno><idno type="ArticleID">MDS21228</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>CAG repeats</term><term>Family Health</term><term>Female</term><term>Human</term><term>Humans</term><term>Italian</term><term>Italy (epidemiology)</term><term>Magnetic Resonance Imaging</term><term>Male</term><term>Mutation</term><term>Nerve Tissue Proteins (genetics)</term><term>Nervous system diseases</term><term>Parkinson Disease (epidemiology)</term><term>Parkinson Disease (genetics)</term><term>Parkinson Disease (pathology)</term><term>Parkinson Disease (radionuclide imaging)</term><term>Parkinson disease</term><term>Parkinson's disease</term><term>Prevalence</term><term>SCA2</term><term>Spinocerebellar ataxia</term><term>Trinucleotide Repeat Expansion (genetics)</term><term>Tropanes (metabolism)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Nerve Tissue Proteins</term></keywords><keywords scheme="MESH" type="geographic" qualifier="epidemiology" xml:lang="en"><term>Italy</term></keywords><keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Parkinson Disease</term><term>Trinucleotide Repeat Expansion</term></keywords><keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>Tropanes</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="radionuclide imaging" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Family Health</term><term>Female</term><term>Humans</term><term>Magnetic Resonance Imaging</term><term>Male</term><term>Mutation</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Ataxie spinocérébelleuse</term><term>Homme</term><term>Italien</term><term>Mutation</term><term>Parkinson maladie</term><term>Prévalence</term><term>Système nerveux pathologie</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Italie</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">We evaluated the prevalence of the SCA2 mutation among 224 Italian patients affected by typical Parkinsonism, including 145 sporadic and 79 familial forms. Pink1, Parkin, and LRRK2 gene mutations had been excluded previously. Molecular testing for the CAG expansion at the SCA 2 locus was performed on leukocyte DNA. Cloning and sequencing of the expanded allele was performed in patients positive for the SCA2 expansion. A 38 CAG expansion was detected in 1 of 79 families studied. The proband, a male age 67, and his sister, age 69, were both affected by a benign form of L‐dopa–responsive Parkinsonism not associated with cerebellar signs. The inheritance was autosomal dominant. The CAG expansion was stable through meiotic transmission: sequence analysis showed that the CAG stretch was interrupted by 3 CAA. Our study shows that CAG expansion at the SCA 2 locus may represent a genetic cause of familial L‐dopa–responsive Parkinsonism among Italian patients. The stability of the pathological CAG expansion detected in this family was related to the presence of CAA interruptions. These findings, together with literature data, suggest that the molecular intrinsic structure of the expanded allele may modulate the phenotypic expression of the SCA2 mutation. © 2006 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Italie</li></country><region><li>Latium</li></region><settlement><li>Rome</li></settlement></list><tree><country name="Italie"><region name="Latium"><name sortKey="Modoni, Anna" sort="Modoni, Anna" uniqKey="Modoni A" first="Anna" last="Modoni">Anna Modoni</name></region><name sortKey="Bentivoglio, Anna Rita" sort="Bentivoglio, Anna Rita" uniqKey="Bentivoglio A" first="Anna Rita" last="Bentivoglio">Anna Rita Bentivoglio</name><name sortKey="Calcagni, Maria Lucia" sort="Calcagni, Maria Lucia" uniqKey="Calcagni M" first="Maria Lucia" last="Calcagni">Maria Lucia Calcagni</name><name sortKey="Contarino, Maria Fiorella" sort="Contarino, Maria Fiorella" uniqKey="Contarino M" first="Maria Fiorella" last="Contarino">Maria Fiorella Contarino</name><name sortKey="Neri, Giovanni" sort="Neri, Giovanni" uniqKey="Neri G" first="Giovanni" last="Neri">Giovanni Neri</name><name sortKey="Santoro, Massimo" sort="Santoro, Massimo" uniqKey="Santoro M" first="Massimo" last="Santoro">Massimo Santoro</name><name sortKey="Silvestri, Gabriella" sort="Silvestri, Gabriella" uniqKey="Silvestri G" first="Gabriella" last="Silvestri">Gabriella Silvestri</name><name sortKey="Tabolacci, Elisabetta" sort="Tabolacci, Elisabetta" uniqKey="Tabolacci E" first="Elisabetta" last="Tabolacci">Elisabetta Tabolacci</name><name sortKey="Tonali, Pietro A" sort="Tonali, Pietro A" uniqKey="Tonali P" first="Pietro A." last="Tonali">Pietro A. Tonali</name><name sortKey="Tonali, Pietro A" sort="Tonali, Pietro A" uniqKey="Tonali P" first="Pietro A." last="Tonali">Pietro A. Tonali</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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