Parkinsonism, FXTAS, and FMR1 premutations
Identifieur interne : 003799 ( Main/Exploration ); précédent : 003798; suivant : 003800Parkinsonism, FXTAS, and FMR1 premutations
Auteurs : Mathias Toft [États-Unis, Norvège] ; Jan Aasly [Norvège] ; Gina Bisceglio [États-Unis] ; Charles H. Adler [États-Unis] ; Ryan J. Uitti [États-Unis] ; Anna Krygowska-Wajs [Pologne] ; Timothy Lynch [Irlande (pays)] ; Zbigniew K. Wszolek [États-Unis] ; Matthew J. Farrer [Norvège]Source :
- Movement Disorders [ 0885-3185 ] ; 2005-02.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
- Adolescent, Adult, Aged, Aged, 80 and over, Alleles, Demography, Fragile X Mental Retardation Protein, Fragile X Syndrome (genetics), Humans, Male, Middle Aged, Nerve Tissue Proteins (genetics), Nervous system diseases, Parkinson's disease, Parkinsonian Disorders (complications), Parkinsonian Disorders (epidemiology), Parkinsonian Disorders (ethnology), Parkinsonian Disorders (genetics), Parkinsonism, RNA, Messenger (biosynthesis), RNA-Binding Proteins (genetics), Reverse Transcriptase Polymerase Chain Reaction (methods), Trinucleotide Repeats (genetics), ataxia, fragile X, genetics, trinucleotide repeat.
- MESH :
- chemical , biosynthesis : RNA, Messenger.
- chemical , genetics : Nerve Tissue Proteins, RNA-Binding Proteins.
- chemical : Fragile X Mental Retardation Protein.
- complications : Parkinsonian Disorders.
- epidemiology : Parkinsonian Disorders.
- ethnology : Parkinsonian Disorders.
- genetics : Fragile X Syndrome, Parkinsonian Disorders, Trinucleotide Repeats.
- methods : Reverse Transcriptase Polymerase Chain Reaction.
- Adolescent, Adult, Aged, Aged, 80 and over, Alleles, Demography, Humans, Male, Middle Aged.
Abstract
The presence of late‐onset neurological symptoms in male carriers of premutation expansions of the fragile X mental retardation 1 (FMR1) gene has been described recently. One of the clinical symptoms in this fragile X–associated tremor/ataxia syndrome (FXTAS) is parkinsonism. To test the possible association between expanded FMR1 alleles and Parkinson's disease (PD), we determined the size of the FMR1 CGG repeat in 414 male cases of clinically diagnosed parkinsonism, the majority of whom had PD. None of our patients had expanded FMR1 repeats within the premutation range (55–200 CGG repeats). Five patients (1.2%) carry intermediate‐size alleles (41–54 CGG repeats). Expansions within the FMR1 gene are not associated with PD in our study. © 2004 Movement Disorder Society
Url:
DOI: 10.1002/mds.20297
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="2005-02">2005-02</date><biblScope unit="vol">20</biblScope><biblScope unit="issue">2</biblScope><biblScope unit="page" from="230">230</biblScope><biblScope unit="page" to="233">233</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">D339F0DFA115997E8E71150466685B4071F6B449</idno><idno type="DOI">10.1002/mds.20297</idno><idno type="ArticleID">MDS20297</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Aged</term><term>Aged, 80 and over</term><term>Alleles</term><term>Demography</term><term>Fragile X Mental Retardation Protein</term><term>Fragile X Syndrome (genetics)</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Nerve Tissue Proteins (genetics)</term><term>Nervous system diseases</term><term>Parkinson's disease</term><term>Parkinsonian Disorders (complications)</term><term>Parkinsonian Disorders (epidemiology)</term><term>Parkinsonian Disorders (ethnology)</term><term>Parkinsonian Disorders (genetics)</term><term>Parkinsonism</term><term>RNA, Messenger (biosynthesis)</term><term>RNA-Binding Proteins (genetics)</term><term>Reverse Transcriptase Polymerase Chain Reaction (methods)</term><term>Trinucleotide Repeats (genetics)</term><term>ataxia</term><term>fragile X</term><term>genetics</term><term>trinucleotide repeat</term></keywords><keywords scheme="MESH" type="chemical" qualifier="biosynthesis" xml:lang="en"><term>RNA, Messenger</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Nerve Tissue Proteins</term><term>RNA-Binding Proteins</term></keywords><keywords scheme="MESH" type="chemical" xml:lang="en"><term>Fragile X Mental Retardation Protein</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Parkinsonian Disorders</term></keywords><keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Parkinsonian Disorders</term></keywords><keywords scheme="MESH" qualifier="ethnology" xml:lang="en"><term>Parkinsonian Disorders</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Fragile X Syndrome</term><term>Parkinsonian Disorders</term><term>Trinucleotide Repeats</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Reverse Transcriptase Polymerase Chain Reaction</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Aged</term><term>Aged, 80 and over</term><term>Alleles</term><term>Demography</term><term>Humans</term><term>Male</term><term>Middle Aged</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Parkinsonisme</term><term>Système nerveux pathologie</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The presence of late‐onset neurological symptoms in male carriers of premutation expansions of the fragile X mental retardation 1 (FMR1) gene has been described recently. One of the clinical symptoms in this fragile X–associated tremor/ataxia syndrome (FXTAS) is parkinsonism. To test the possible association between expanded FMR1 alleles and Parkinson's disease (PD), we determined the size of the FMR1 CGG repeat in 414 male cases of clinically diagnosed parkinsonism, the majority of whom had PD. None of our patients had expanded FMR1 repeats within the premutation range (55–200 CGG repeats). Five patients (1.2%) carry intermediate‐size alleles (41–54 CGG repeats). Expansions within the FMR1 gene are not associated with PD in our study. © 2004 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Irlande (pays)</li><li>Norvège</li><li>Pologne</li><li>États-Unis</li></country><region><li>Arizona</li><li>Floride</li><li>Trøndelag</li></region><settlement><li>Trondheim</li></settlement></list><tree><country name="États-Unis"><region name="Floride"><name sortKey="Toft, Mathias" sort="Toft, Mathias" uniqKey="Toft M" first="Mathias" last="Toft">Mathias Toft</name></region><name sortKey="Adler, Charles H" sort="Adler, Charles H" uniqKey="Adler C" first="Charles H." last="Adler">Charles H. Adler</name><name sortKey="Bisceglio, Gina" sort="Bisceglio, Gina" uniqKey="Bisceglio G" first="Gina" last="Bisceglio">Gina Bisceglio</name><name sortKey="Uitti, Ryan J" sort="Uitti, Ryan J" uniqKey="Uitti R" first="Ryan J." last="Uitti">Ryan J. Uitti</name><name sortKey="Wszolek, Zbigniew K" sort="Wszolek, Zbigniew K" uniqKey="Wszolek Z" first="Zbigniew K." last="Wszolek">Zbigniew K. Wszolek</name></country><country name="Norvège"><region name="Trøndelag"><name sortKey="Toft, Mathias" sort="Toft, Mathias" uniqKey="Toft M" first="Mathias" last="Toft">Mathias Toft</name></region><name sortKey="Aasly, Jan" sort="Aasly, Jan" uniqKey="Aasly J" first="Jan" last="Aasly">Jan Aasly</name><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name></country><country name="Pologne"><noRegion><name sortKey="Krygowska Ajs, Anna" sort="Krygowska Ajs, Anna" uniqKey="Krygowska Ajs A" first="Anna" last="Krygowska-Wajs">Anna Krygowska-Wajs</name></noRegion></country><country name="Irlande (pays)"><noRegion><name sortKey="Lynch, Timothy" sort="Lynch, Timothy" uniqKey="Lynch T" first="Timothy" last="Lynch">Timothy Lynch</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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