MovDisordV3, Main, Exploration, bibRecord, 002A85

Anticholinergic-Responsive Gait Freezing in a Patient with Pantothenate Kinase-Associated Neurodegeneration

Identifieur interne : 002A85 ( Main/Exploration ); précédent : 002A84; suivant : 002A86

Anticholinergic-Responsive Gait Freezing in a Patient with Pantothenate Kinase-Associated Neurodegeneration

Auteurs : CHUL HYOUNG LYOO [Corée du Sud] ; Holger Prokisch [Allemagne] ; Thomas Meitinger [Allemagne] ; SEUNG YEOB LEE [Corée du Sud] ; DO HYOUN KIM [Corée du Sud] ; MYUNG SIK LEE [Corée du Sud]

Source :

Movement disorders [ 0885-3185 ] ; 2008.

RBID : Pascal:08-0133675

Descripteurs français

Pascal (Inist)
- Pathologie du système nerveux, Congélation, Homme, Pantothenate kinase.
Wicri :
- topic : Congélation, Homme.

English descriptors

KwdEn :
- Freezing, Human, Nervous system diseases, Pantothenate kinase.

Abstract

A 43-year-old male patient suddenly developed freezing of gait (FOG) when making a first step, turning, or passing through a narrow path. Dystonic plantar flexion of his left foot always accompanied with FOG. He could walk without FOG when stepping on visual cues. Brain magnetic resonance imaging study showed typical "eye of the tiger" sign in the globus pallidus. He had heterozygous mutations in the exons 3 and 4 in the PANK2 gene. His FOG dramatically responded to the anticholinergic treatment. We report the first instance of a patient with genetically confirmed pantothenate kinase associated neurodegeneration showing typical FOG that responded to anticholinergic treatment.

Affiliations:

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Le document en format XML

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<author><name sortKey="Chul Hyoung Lyoo" sort="Chul Hyoung Lyoo" uniqKey="Chul Hyoung Lyoo" last="Chul Hyoung Lyoo">CHUL HYOUNG LYOO</name>
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<author><name sortKey="Do Hyoun Kim" sort="Do Hyoun Kim" uniqKey="Do Hyoun Kim" last="Do Hyoun Kim">DO HYOUN KIM</name>
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<author><name sortKey="Seung Yeob Lee" sort="Seung Yeob Lee" uniqKey="Seung Yeob Lee" last="Seung Yeob Lee">SEUNG YEOB LEE</name>
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<keywords scheme="Pascal" xml:lang="fr"><term>Pathologie du   système nerveux</term>
<term>Congélation</term>
<term>Homme</term>
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<front><div type="abstract" xml:lang="en">A 43-year-old male patient suddenly developed freezing of gait (FOG) when making a first step, turning, or passing through a narrow path. Dystonic plantar flexion of his left foot always accompanied with FOG. He could walk without FOG when stepping on visual cues. Brain magnetic resonance imaging study showed typical "eye of the tiger" sign in the globus pallidus. He had heterozygous mutations in the exons 3 and 4 in the PANK2 gene. His FOG dramatically responded to the anticholinergic treatment. We report the first instance of a patient with genetically confirmed pantothenate kinase associated neurodegeneration showing typical FOG that responded to anticholinergic treatment.</div>
</front>
</TEI>
<affiliations><list><country><li>Allemagne</li>
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<region><li>Bavière</li>
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	Movement Disorders (revue)
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Movement Disorders (revue)

Anticholinergic-Responsive Gait Freezing in a Patient with Pantothenate Kinase-Associated Neurodegeneration

Anticholinergic-Responsive Gait Freezing in a Patient with Pantothenate Kinase-Associated Neurodegeneration

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