MovDisordV3, Main, Exploration, bibRecord, 003679

Very late‐onset Friedreich's ataxia with minimal GAA1 expansion mimicking multiple system atrophy of cerebellar type

Identifieur interne : 003679 ( Main/Exploration ); précédent : 003678; suivant : 003680

Very late‐onset Friedreich's ataxia with minimal GAA1 expansion mimicking multiple system atrophy of cerebellar type

Auteurs : José Berciano [Espagne] ; Jon Infante [Espagne] ; Antonio García [Espagne] ; José Miguel Polo [Espagne] ; Victor Volpini [Espagne] ; Onofre Combarros [Espagne]

Source :

Movement Disorders [ 0885-3185 ] ; 2005-12.

RBID : ISTEX:EF1587A701B979D80AA287373C98E804A3F2251E

Descripteurs français

Pascal (Inist)
- Ataxie cérébelleuse, Atrophie multisystématisée, Cervelet, Diagnostic différentiel, Hérédodégénérescence spinocérébelleuse Friedreich, Idiopathique, Système nerveux pathologie.

English descriptors

KwdEn :
- Age of Onset, Aged, Cerebellar ataxia, Cerebellum, Cerebellum (pathology), Differential diagnostic, Evoked Potentials, Somatosensory (physiology), Friedreich Ataxia (genetics), Friedreich Ataxia (pathology), Friedreich Ataxia (physiopathology), Friedreich ataxia, Friedreich's ataxia, GAA1 dynamic expansion, Humans, Idiopathic, Magnetic Resonance Imaging (methods), Male, Membrane Glycoproteins (genetics), Multiple System Atrophy (diagnosis), Multiple System Atrophy (etiology), Multiple system atrophy, Nervous system diseases, Neural Conduction (physiology), Spinal Cord (pathology), Trinucleotide Repeat Expansion (genetics), idiopathic late‐onset cerebellar ataxia, multiple system atrophy.
MESH :
- chemical , genetics : Membrane Glycoproteins.
- diagnosis : Multiple System Atrophy.
- etiology : Multiple System Atrophy.
- genetics : Friedreich Ataxia, Trinucleotide Repeat Expansion.
- methods : Magnetic Resonance Imaging.
- pathology : Cerebellum, Friedreich Ataxia, Spinal Cord.
- physiology : Evoked Potentials, Somatosensory, Neural Conduction.
- physiopathology : Friedreich Ataxia.
- Age of Onset, Aged, Humans, Male.

Abstract

Very late‐onset Friedreich's ataxia (VLOFA) is characterized by symptomatic onset after 40 years of age and, usually, a benign phenotype. We describe a sporadic case with onset at 53 years of age and a novel VLOFA phenotype mimicking multiple system atrophy (MSA) of cerebellar type associated with minimal GAA1 expansion. We detected several atypical features for a diagnosis of MSA, which should alert to the possibility of an inherited ataxia. © 2005 Movement Disorder Society

Url:

https://api.istex.fr/document/EF1587A701B979D80AA287373C98E804A3F2251E/fulltext/pdf

DOI: 10.1002/mds.20644

Affiliations:

Le document en format XML

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<author><name sortKey="Garcia, Antonio" sort="Garcia, Antonio" uniqKey="Garcia A" first="Antonio" last="García">Antonio García</name>
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<author><name sortKey="Polo, Jose Miguel" sort="Polo, Jose Miguel" uniqKey="Polo J" first="José Miguel" last="Polo">José Miguel Polo</name>
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<term>Cerebellum (pathology)</term>
<term>Differential diagnostic</term>
<term>Evoked Potentials, Somatosensory (physiology)</term>
<term>Friedreich Ataxia (genetics)</term>
<term>Friedreich Ataxia (pathology)</term>
<term>Friedreich Ataxia (physiopathology)</term>
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<front><div type="abstract" xml:lang="en">Very late‐onset Friedreich's ataxia (VLOFA) is characterized by symptomatic onset after 40 years of age and, usually, a benign phenotype. We describe a sporadic case with onset at 53 years of age and a novel VLOFA phenotype mimicking multiple system atrophy (MSA) of cerebellar type associated with minimal GAA1 expansion. We detected several atypical features for a diagnosis of MSA, which should alert to the possibility of an inherited ataxia. © 2005 Movement Disorder Society</div>
</front>
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Movement Disorders (revue)

Very late‐onset Friedreich's ataxia with minimal GAA1 expansion mimicking multiple system atrophy of cerebellar type

Very late‐onset Friedreich's ataxia with minimal GAA1 expansion mimicking multiple system atrophy of cerebellar type

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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