Parkinsonism, FXTAS, and FMR1 premutations.
Identifieur interne : 001054 ( Ncbi/Checkpoint ); précédent : 001053; suivant : 001055Parkinsonism, FXTAS, and FMR1 premutations.
Auteurs : Mathias Toft [États-Unis] ; Jan Aasly ; Gina Bisceglio ; Charles H. Adler ; Ryan J. Uitti ; Anna Krygowska-Wajs ; Timothy Lynch ; Zbigniew K. Wszolek ; Matthew J. FarrerSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2005.
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), Parkinsonian Disorders (complications), Parkinsonian Disorders (epidemiology), Parkinsonian Disorders (ethnology), Parkinsonian Disorders (genetics), RNA, Messenger (biosynthesis), RNA-Binding Proteins (genetics), Reverse Transcriptase Polymerase Chain Reaction (methods), Trinucleotide Repeats (genetics).
- 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.
DOI: 10.1002/mds.20297
PubMed: 15390127
Affiliations:
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Adler</name></author><author><name sortKey="Uitti, Ryan J" sort="Uitti, Ryan J" uniqKey="Uitti R" first="Ryan J" last="Uitti">Ryan J. Uitti</name></author><author><name sortKey="Krygowska Wajs, Anna" sort="Krygowska Wajs, Anna" uniqKey="Krygowska Wajs A" first="Anna" last="Krygowska-Wajs">Anna Krygowska-Wajs</name></author><author><name sortKey="Lynch, Timothy" sort="Lynch, Timothy" uniqKey="Lynch T" first="Timothy" last="Lynch">Timothy Lynch</name></author><author><name sortKey="Wszolek, Zbigniew K" sort="Wszolek, Zbigniew K" uniqKey="Wszolek Z" first="Zbigniew K" last="Wszolek">Zbigniew K. Wszolek</name></author><author><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J" last="Farrer">Matthew J. 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Adler</name></author><author><name sortKey="Uitti, Ryan J" sort="Uitti, Ryan J" uniqKey="Uitti R" first="Ryan J" last="Uitti">Ryan J. Uitti</name></author><author><name sortKey="Krygowska Wajs, Anna" sort="Krygowska Wajs, Anna" uniqKey="Krygowska Wajs A" first="Anna" last="Krygowska-Wajs">Anna Krygowska-Wajs</name></author><author><name sortKey="Lynch, Timothy" sort="Lynch, Timothy" uniqKey="Lynch T" first="Timothy" last="Lynch">Timothy Lynch</name></author><author><name sortKey="Wszolek, Zbigniew K" sort="Wszolek, Zbigniew K" uniqKey="Wszolek Z" first="Zbigniew K" last="Wszolek">Zbigniew K. Wszolek</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></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</idno><imprint><date when="2005" type="published">2005</date></imprint></series></biblStruct></sourceDesc></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>Parkinsonian Disorders (complications)</term><term>Parkinsonian Disorders (epidemiology)</term><term>Parkinsonian Disorders (ethnology)</term><term>Parkinsonian Disorders (genetics)</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></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></textClass></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.</div></front></TEI><affiliations><list><country><li>États-Unis</li></country><region><li>Floride</li></region></list><tree><noCountry><name sortKey="Aasly, Jan" sort="Aasly, Jan" uniqKey="Aasly J" first="Jan" last="Aasly">Jan Aasly</name><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="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J" last="Farrer">Matthew J. Farrer</name><name sortKey="Krygowska Wajs, Anna" sort="Krygowska Wajs, Anna" uniqKey="Krygowska Wajs A" first="Anna" last="Krygowska-Wajs">Anna Krygowska-Wajs</name><name sortKey="Lynch, Timothy" sort="Lynch, Timothy" uniqKey="Lynch T" first="Timothy" last="Lynch">Timothy Lynch</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></noCountry><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></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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