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Open Access Green möglich sobald Postprint bei der ZB eingereicht worden ist.
Anticholinergic-responsive gait freezing in a patient with pantothenate kinase-associated neurodegeneration.
Mov. Disord. 23, 283-284 (2008)
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.
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Publikationstyp
Artikel: Journalartikel
Dokumenttyp
Wissenschaftlicher Artikel
Schlagwörter
gait freezing; pantothenate kinase-associated neurodegeneration; anticholinergic
ISSN (print) / ISBN
0885-3185
e-ISSN
1531-8257
Zeitschrift
Movement Disorders
Quellenangaben
Band: 23,
Heft: 2,
Seiten: 283-284
Verlag
Wiley
Nichtpatentliteratur
Publikationen
Begutachtungsstatus
Peer reviewed
Institut(e)
Institute of Human Genetics (IHG)