MovDisordV3, Main, Exploration, bibRecord, 000572

Gait disorders in fatal familial insomnia.

Identifieur interne : 000572 ( Main/Exploration ); précédent : 000571; suivant : 000573

Gait disorders in fatal familial insomnia.

Auteurs : Pietro Cortelli [Italie] ; Margherita Fabbri ; Giovanna Calandra-Buonaura ; Sabina Capellari ; Paolo Tinuper ; Piero Parchi ; Elio Lugaresi

Source :

Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2014.

RBID : pubmed:24375448

English descriptors

KwdEn :
- Brain (pathology), Brain (physiopathology), Female, Gait (physiology), Homozygote, Humans, Insomnia, Fatal Familial (genetics), Insomnia, Fatal Familial (physiopathology), Male, Middle Aged, Movement Disorders (genetics), Movement Disorders (physiopathology), Mutation (genetics).
MESH :
- genetics : Insomnia, Fatal Familial, Movement Disorders, Mutation.
- pathology : Brain.
- physiology : Gait.
- physiopathology : Brain, Insomnia, Fatal Familial, Movement Disorders.
- Female, Homozygote, Humans, Male, Middle Aged.

Abstract

Fatal familial insomnia (FFI) is a hereditary autosomal-dominant prion disease linked to a mutation of the prion protein gene and characterized by sleep and autonomic abnormalities at onset followed by motor disturbances. We describe gait abnormalities in 13 FFI cases with different disease durations.

DOI: 10.1002/mds.25786
PubMed: 24375448

Affiliations:

Italie

Le document en format XML

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<affiliation wicri:level="1"><nlm:affiliation>IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy; Department of Biomedical and NeuroMotor Sciences (DIBINEM), Alma Mater Studiorum, University of Bologna, Bologna, Italy.</nlm:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy; Department of Biomedical and NeuroMotor Sciences (DIBINEM), Alma Mater Studiorum, University of Bologna, Bologna</wicri:regionArea>
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<author><name sortKey="Fabbri, Margherita" sort="Fabbri, Margherita" uniqKey="Fabbri M" first="Margherita" last="Fabbri">Margherita Fabbri</name>
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<author><name sortKey="Calandra Buonaura, Giovanna" sort="Calandra Buonaura, Giovanna" uniqKey="Calandra Buonaura G" first="Giovanna" last="Calandra-Buonaura">Giovanna Calandra-Buonaura</name>
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<author><name sortKey="Capellari, Sabina" sort="Capellari, Sabina" uniqKey="Capellari S" first="Sabina" last="Capellari">Sabina Capellari</name>
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<author><name sortKey="Tinuper, Paolo" sort="Tinuper, Paolo" uniqKey="Tinuper P" first="Paolo" last="Tinuper">Paolo Tinuper</name>
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<author><name sortKey="Parchi, Piero" sort="Parchi, Piero" uniqKey="Parchi P" first="Piero" last="Parchi">Piero Parchi</name>
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<author><name sortKey="Lugaresi, Elio" sort="Lugaresi, Elio" uniqKey="Lugaresi E" first="Elio" last="Lugaresi">Elio Lugaresi</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">Gait disorders in fatal familial insomnia.</title>
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<affiliation wicri:level="1"><nlm:affiliation>IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy; Department of Biomedical and NeuroMotor Sciences (DIBINEM), Alma Mater Studiorum, University of Bologna, Bologna, Italy.</nlm:affiliation>
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<wicri:regionArea>IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy; Department of Biomedical and NeuroMotor Sciences (DIBINEM), Alma Mater Studiorum, University of Bologna, Bologna</wicri:regionArea>
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<author><name sortKey="Fabbri, Margherita" sort="Fabbri, Margherita" uniqKey="Fabbri M" first="Margherita" last="Fabbri">Margherita Fabbri</name>
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<author><name sortKey="Calandra Buonaura, Giovanna" sort="Calandra Buonaura, Giovanna" uniqKey="Calandra Buonaura G" first="Giovanna" last="Calandra-Buonaura">Giovanna Calandra-Buonaura</name>
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<author><name sortKey="Capellari, Sabina" sort="Capellari, Sabina" uniqKey="Capellari S" first="Sabina" last="Capellari">Sabina Capellari</name>
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<author><name sortKey="Tinuper, Paolo" sort="Tinuper, Paolo" uniqKey="Tinuper P" first="Paolo" last="Tinuper">Paolo Tinuper</name>
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<author><name sortKey="Parchi, Piero" sort="Parchi, Piero" uniqKey="Parchi P" first="Piero" last="Parchi">Piero Parchi</name>
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<author><name sortKey="Lugaresi, Elio" sort="Lugaresi, Elio" uniqKey="Lugaresi E" first="Elio" last="Lugaresi">Elio Lugaresi</name>
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<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
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<term>Homozygote</term>
<term>Humans</term>
<term>Insomnia, Fatal Familial (genetics)</term>
<term>Insomnia, Fatal Familial (physiopathology)</term>
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<term>Middle Aged</term>
<term>Movement Disorders (genetics)</term>
<term>Movement Disorders (physiopathology)</term>
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<front><div type="abstract" xml:lang="en">Fatal familial insomnia (FFI) is a hereditary autosomal-dominant prion disease linked to a mutation of the prion protein gene and characterized by sleep and autonomic abnormalities at onset followed by motor disturbances. We describe gait abnormalities in 13 FFI cases with different disease durations.</div>
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<name sortKey="Capellari, Sabina" sort="Capellari, Sabina" uniqKey="Capellari S" first="Sabina" last="Capellari">Sabina Capellari</name>
<name sortKey="Fabbri, Margherita" sort="Fabbri, Margherita" uniqKey="Fabbri M" first="Margherita" last="Fabbri">Margherita Fabbri</name>
<name sortKey="Lugaresi, Elio" sort="Lugaresi, Elio" uniqKey="Lugaresi E" first="Elio" last="Lugaresi">Elio Lugaresi</name>
<name sortKey="Parchi, Piero" sort="Parchi, Piero" uniqKey="Parchi P" first="Piero" last="Parchi">Piero Parchi</name>
<name sortKey="Tinuper, Paolo" sort="Tinuper, Paolo" uniqKey="Tinuper P" first="Paolo" last="Tinuper">Paolo Tinuper</name>
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<country name="Italie"><noRegion><name sortKey="Cortelli, Pietro" sort="Cortelli, Pietro" uniqKey="Cortelli P" first="Pietro" last="Cortelli">Pietro Cortelli</name>
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Movement Disorders (revue)

Gait disorders in fatal familial insomnia.

Gait disorders in fatal familial insomnia.

Source :

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

Pour générer des pages wiki

	Movement Disorders (revue)
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.