Movement Disorders (revue)

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Anticholinergic‐responsive gait freezing in a patient with pantothenate kinase‐associated neurodegeneration

Identifieur interne : 002A05 ( Main/Exploration ); précédent : 002A04; suivant : 002A06

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 :

RBID : ISTEX:082AFF5F8999C960DE7003D6C4A660B870835C24

English descriptors

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. © 2007 Movement Disorder Society

Url:
DOI: 10.1002/mds.21799


Affiliations:


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Le document en format XML

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<term>Gait Disorders, Neurologic (etiology)</term>
<term>Humans</term>
<term>Magnetic Resonance Imaging</term>
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<term>Pantothenate Kinase-Associated Neurodegeneration (complications)</term>
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<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. © 2007 Movement Disorder Society</div>
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