MovDisordV3, Main, Exploration, bibRecord, 002E39

Fragile X‐associated tremor/ataxia syndrome: Intrafamilial variability and the size of the FMR1 premutation CGG repeat

Identifieur interne : 002E39 ( Main/Exploration ); précédent : 002E38; suivant : 002E40

Fragile X‐associated tremor/ataxia syndrome: Intrafamilial variability and the size of the FMR1 premutation CGG repeat

Auteurs : Leonardo P. Capelli [Brésil] ; Márcia R. R. Gonçalves [Brésil] ; Fernando Kok [Brésil] ; Cláudia C. Leite [Brésil] ; Ricardo Nitrini [Brésil] ; Egberto R. Barbosa [Brésil] ; Angela M. Vianna-Morgante [Brésil]

Source :

Movement Disorders [ 0885-3185 ] ; 2007-04-30.

RBID : ISTEX:E4C6D6CDF2211BA5C5821C516751F2CC550B791C

Descripteurs français

Pascal (Inist)
- Ataxie, Système nerveux pathologie, Tremblement, Variabilité, X fragile syndrome.

English descriptors

KwdEn :
- Aged, Ataxia, Cerebellum (pathology), FMR1 gene, FXTAS, Family, Female, Fragile X Mental Retardation Protein (genetics), Fragile X Syndrome (genetics), Fragile X Syndrome (pathology), Fragile X syndrome, Humans, Interleukin-4 (blood), Interleukin-5 (blood), Interleukin-6 (blood), Interleukin-8 (blood), Male, Nervous system diseases, Pedigree, Siblings, Tremor, Trinucleotide Repeats, Variability, fragile X premutation, tremor/ataxia syndrome.
MESH :
- chemical , blood : Interleukin-4, Interleukin-5, Interleukin-6, Interleukin-8.
- chemical , genetics : Fragile X Mental Retardation Protein.
- genetics : Fragile X Syndrome.
- pathology : Cerebellum, Fragile X Syndrome.
- Aged, Family, Female, Humans, Male, Pedigree, Siblings, Trinucleotide Repeats.

Abstract

Fragile X‐associated tremor/ataxia syndrome (FXTAS) is a neurological progressive disorder associated with the FMR1 gene premutation. We report on variable presentation of findings associated with FXTAS in 3 brothers aged 68, 74, and 73 years, carrying premutation alleles of (CGG)123, (CGG)109, and (CGG)91 triplets, respectively. Based on previously proposed diagnostic criteria for the syndrome, clinical and radiological data allowed establishing a “definite” diagnosis of FXTAS in the two carriers of the longest (CGG)n. The carrier of the (CGG)91 allele, although presenting a major radiological sign of the syndrome (symmetrical white‐matter lesions in the middle cerebellar peduncles), did not have any significant neurological manifestation at 73 years of age. © 2007 Movement Disorder Society

Url:

https://api.istex.fr/document/E4C6D6CDF2211BA5C5821C516751F2CC550B791C/fulltext/pdf

DOI: 10.1002/mds.21347

Affiliations:

Le document en format XML

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<term>FXTAS</term>
<term>Family</term>
<term>Female</term>
<term>Fragile X Mental Retardation Protein (genetics)</term>
<term>Fragile X Syndrome (genetics)</term>
<term>Fragile X Syndrome (pathology)</term>
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<term>Nervous system diseases</term>
<term>Pedigree</term>
<term>Siblings</term>
<term>Tremor</term>
<term>Trinucleotide Repeats</term>
<term>Variability</term>
<term>fragile X premutation</term>
<term>tremor/ataxia syndrome</term>
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<term>Fragile X Syndrome</term>
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<term>Family</term>
<term>Female</term>
<term>Humans</term>
<term>Male</term>
<term>Pedigree</term>
<term>Siblings</term>
<term>Trinucleotide Repeats</term>
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<front><div type="abstract" xml:lang="en">Fragile X‐associated tremor/ataxia syndrome (FXTAS) is a neurological progressive disorder associated with the FMR1 gene premutation. We report on variable presentation of findings associated with FXTAS in 3 brothers aged 68, 74, and 73 years, carrying premutation alleles of (CGG)123, (CGG)109, and (CGG)91 triplets, respectively. Based on previously proposed diagnostic criteria for the syndrome, clinical and radiological data allowed establishing a “definite” diagnosis of FXTAS in the two carriers of the longest (CGG)n. The carrier of the (CGG)91 allele, although presenting a major radiological sign of the syndrome (symmetrical white‐matter lesions in the middle cerebellar peduncles), did not have any significant neurological manifestation at 73 years of age. © 2007 Movement Disorder Society</div>
</front>
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<tree><country name="Brésil"><region name="État de São Paulo"><name sortKey="Capelli, Leonardo P" sort="Capelli, Leonardo P" uniqKey="Capelli L" first="Leonardo P." last="Capelli">Leonardo P. Capelli</name>
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<name sortKey="Barbosa, Egberto R" sort="Barbosa, Egberto R" uniqKey="Barbosa E" first="Egberto R." last="Barbosa">Egberto R. Barbosa</name>
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<name sortKey="Kok, Fernando" sort="Kok, Fernando" uniqKey="Kok F" first="Fernando" last="Kok">Fernando Kok</name>
<name sortKey="Leite, Claudia C" sort="Leite, Claudia C" uniqKey="Leite C" first="Cláudia C." last="Leite">Cláudia C. Leite</name>
<name sortKey="Nitrini, Ricardo" sort="Nitrini, Ricardo" uniqKey="Nitrini R" first="Ricardo" last="Nitrini">Ricardo Nitrini</name>
<name sortKey="Vianna Organte, Angela M" sort="Vianna Organte, Angela M" uniqKey="Vianna Organte A" first="Angela M." last="Vianna-Morgante">Angela M. Vianna-Morgante</name>
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Movement Disorders (revue)

Fragile X‐associated tremor/ataxia syndrome: Intrafamilial variability and the size of the FMR1 premutation CGG repeat

Fragile X‐associated tremor/ataxia syndrome: Intrafamilial variability and the size of the FMR1 premutation CGG repeat

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

	Movement Disorders (revue)
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