Intrafamilial variability in fragile X-associated tremor/ataxia syndrome.
Identifieur interne : 001418 ( Ncbi/Merge ); précédent : 001417; suivant : 001419Intrafamilial variability in fragile X-associated tremor/ataxia syndrome.
Auteurs : Nils Peters [Allemagne] ; Christoph Kamm ; Friedrich Asmus ; Elke Holinski-Feder ; Eduard Kraft ; Martin Dichgans ; Roland Brüning ; Thomas Gasser ; Kai BötzelSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2006.
English descriptors
- KwdEn :
- Atrophy, Cerebellum (pathology), DNA Mutational Analysis, Deep Brain Stimulation, Female, Follow-Up Studies, Fragile X Mental Retardation Protein (genetics), Fragile X Syndrome (diagnosis), Fragile X Syndrome (genetics), Fragile X Syndrome (therapy), Gait Apraxia (diagnosis), Gait Apraxia (genetics), Gait Apraxia (therapy), Genetic Variation (genetics), Humans, Magnetic Resonance Imaging, Male, Middle Aged, Neurologic Examination, Pedigree, Sex Factors, Spinocerebellar Degenerations (diagnosis), Spinocerebellar Degenerations (genetics), Spinocerebellar Degenerations (therapy), Tremor (diagnosis), Tremor (genetics), Tremor (therapy), Trinucleotide Repeats (genetics).
- MESH :
- chemical , genetics : Fragile X Mental Retardation Protein.
- diagnosis : Fragile X Syndrome, Gait Apraxia, Spinocerebellar Degenerations, Tremor.
- genetics : Fragile X Syndrome, Gait Apraxia, Genetic Variation, Spinocerebellar Degenerations, Tremor, Trinucleotide Repeats.
- pathology : Cerebellum.
- therapy : Fragile X Syndrome, Gait Apraxia, Spinocerebellar Degenerations, Tremor.
- Atrophy, DNA Mutational Analysis, Deep Brain Stimulation, Female, Follow-Up Studies, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Neurologic Examination, Pedigree, Sex Factors.
Abstract
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a progressive adult-onset tremor/ataxia syndrome caused by premutations in the FMR1 gene. In cranial MRI, the most characteristic findings are bilateral T2 hyperintense lesions within the middle cerebellar peduncles. Here we present a sibpair of two affected brothers presenting with very different symptoms (typical FXTAS versus essential tremor-like), disease progression, and MRI findings, illustrating broad intrafamilial variability of FXTAS. Also, their family history suggests further evidence of possible manifestation of FXTAS in women.
DOI: 10.1002/mds.20673
PubMed: 16124012
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pubmed:16124012Le document en format XML
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<author><name sortKey="Peters, Nils" sort="Peters, Nils" uniqKey="Peters N" first="Nils" last="Peters">Nils Peters</name>
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<author><name sortKey="Asmus, Friedrich" sort="Asmus, Friedrich" uniqKey="Asmus F" first="Friedrich" last="Asmus">Friedrich Asmus</name>
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<author><name sortKey="Holinski Feder, Elke" sort="Holinski Feder, Elke" uniqKey="Holinski Feder E" first="Elke" last="Holinski-Feder">Elke Holinski-Feder</name>
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<author><name sortKey="Kraft, Eduard" sort="Kraft, Eduard" uniqKey="Kraft E" first="Eduard" last="Kraft">Eduard Kraft</name>
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<author><name sortKey="Dichgans, Martin" sort="Dichgans, Martin" uniqKey="Dichgans M" first="Martin" last="Dichgans">Martin Dichgans</name>
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<author><name sortKey="Bruning, Roland" sort="Bruning, Roland" uniqKey="Bruning R" first="Roland" last="Brüning">Roland Brüning</name>
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<author><name sortKey="Gasser, Thomas" sort="Gasser, Thomas" uniqKey="Gasser T" first="Thomas" last="Gasser">Thomas Gasser</name>
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<author><name sortKey="Holinski Feder, Elke" sort="Holinski Feder, Elke" uniqKey="Holinski Feder E" first="Elke" last="Holinski-Feder">Elke Holinski-Feder</name>
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<author><name sortKey="Botzel, Kai" sort="Botzel, Kai" uniqKey="Botzel K" first="Kai" last="Bötzel">Kai Bötzel</name>
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<term>Cerebellum (pathology)</term>
<term>DNA Mutational Analysis</term>
<term>Deep Brain Stimulation</term>
<term>Female</term>
<term>Follow-Up Studies</term>
<term>Fragile X Mental Retardation Protein (genetics)</term>
<term>Fragile X Syndrome (diagnosis)</term>
<term>Fragile X Syndrome (genetics)</term>
<term>Fragile X Syndrome (therapy)</term>
<term>Gait Apraxia (diagnosis)</term>
<term>Gait Apraxia (genetics)</term>
<term>Gait Apraxia (therapy)</term>
<term>Genetic Variation (genetics)</term>
<term>Humans</term>
<term>Magnetic Resonance Imaging</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Neurologic Examination</term>
<term>Pedigree</term>
<term>Sex Factors</term>
<term>Spinocerebellar Degenerations (diagnosis)</term>
<term>Spinocerebellar Degenerations (genetics)</term>
<term>Spinocerebellar Degenerations (therapy)</term>
<term>Tremor (diagnosis)</term>
<term>Tremor (genetics)</term>
<term>Tremor (therapy)</term>
<term>Trinucleotide Repeats (genetics)</term>
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<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Fragile X Mental Retardation Protein</term>
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<term>Spinocerebellar Degenerations</term>
<term>Tremor</term>
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<term>Genetic Variation</term>
<term>Spinocerebellar Degenerations</term>
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<term>Trinucleotide Repeats</term>
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<term>Gait Apraxia</term>
<term>Spinocerebellar Degenerations</term>
<term>Tremor</term>
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<term>DNA Mutational Analysis</term>
<term>Deep Brain Stimulation</term>
<term>Female</term>
<term>Follow-Up Studies</term>
<term>Humans</term>
<term>Magnetic Resonance Imaging</term>
<term>Male</term>
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<term>Neurologic Examination</term>
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<front><div type="abstract" xml:lang="en">Fragile X-associated tremor/ataxia syndrome (FXTAS) is a progressive adult-onset tremor/ataxia syndrome caused by premutations in the FMR1 gene. In cranial MRI, the most characteristic findings are bilateral T2 hyperintense lesions within the middle cerebellar peduncles. Here we present a sibpair of two affected brothers presenting with very different symptoms (typical FXTAS versus essential tremor-like), disease progression, and MRI findings, illustrating broad intrafamilial variability of FXTAS. Also, their family history suggests further evidence of possible manifestation of FXTAS in women.</div>
</front>
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<Abstract><AbstractText>Fragile X-associated tremor/ataxia syndrome (FXTAS) is a progressive adult-onset tremor/ataxia syndrome caused by premutations in the FMR1 gene. In cranial MRI, the most characteristic findings are bilateral T2 hyperintense lesions within the middle cerebellar peduncles. Here we present a sibpair of two affected brothers presenting with very different symptoms (typical FXTAS versus essential tremor-like), disease progression, and MRI findings, illustrating broad intrafamilial variability of FXTAS. Also, their family history suggests further evidence of possible manifestation of FXTAS in women.</AbstractText>
<CopyrightInformation>Copyright (c) 2005 Movement Disorder Society.</CopyrightInformation>
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