Anticholinergic-responsive gait freezing in a patient with pantothenate kinase-associated neurodegeneration.
Identifieur interne : 002445 ( PubMed/Corpus ); précédent : 002444; suivant : 002446Anticholinergic-responsive gait freezing in a patient with pantothenate kinase-associated neurodegeneration.
Auteurs : Chul Hyoung Lyoo ; Holger Prokisch ; Thomas Meitinger ; Seung Yeob Lee ; Do Hyoun Kim ; Myung Sik LeeSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2008.
English descriptors
- KwdEn :
- Adult, Cholinergic Antagonists (therapeutic use), Gait Disorders, Neurologic (drug therapy), Gait Disorders, Neurologic (etiology), Humans, Magnetic Resonance Imaging, Male, Pantothenate Kinase-Associated Neurodegeneration (complications), Pantothenate Kinase-Associated Neurodegeneration (drug therapy).
- MESH :
- chemical , therapeutic use : Cholinergic Antagonists.
- complications : Pantothenate Kinase-Associated Neurodegeneration.
- drug therapy : Gait Disorders, Neurologic, Pantothenate Kinase-Associated Neurodegeneration.
- etiology : Gait Disorders, Neurologic.
- Adult, Humans, Magnetic Resonance Imaging, Male.
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.
DOI: 10.1002/mds.21799
PubMed: 17999425
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pubmed:17999425Le document en format XML
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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><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">17999425</PMID><DateCreated><Year>2008</Year><Month>02</Month><Day>04</Day></DateCreated><DateCompleted><Year>2008</Year><Month>05</Month><Day>08</Day></DateCompleted><Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN><JournalIssue CitedMedium="Internet"><Volume>23</Volume><Issue>2</Issue><PubDate><Year>2008</Year><Month>Jan</Month><Day>30</Day></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Anticholinergic-responsive gait freezing in a patient with pantothenate kinase-associated neurodegeneration.</ArticleTitle><Pagination><MedlinePgn>283-4</MedlinePgn></Pagination><Abstract><AbstractText>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.</AbstractText><CopyrightInformation>2007 Movement Disorder Society</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Lyoo</LastName><ForeName>Chul Hyoung</ForeName><Initials>CH</Initials><AffiliationInfo><Affiliation>Department of Neurology, Youngdong Severance Hospital, Yonsei University College of Medicine, Seoul, South Korea.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Prokisch</LastName><ForeName>Holger</ForeName><Initials>H</Initials></Author><Author ValidYN="Y"><LastName>Meitinger</LastName><ForeName>Thomas</ForeName><Initials>T</Initials></Author><Author ValidYN="Y"><LastName>Lee</LastName><ForeName>Seung Yeob</ForeName><Initials>SY</Initials></Author><Author ValidYN="Y"><LastName>Kim</LastName><ForeName>Do Hyoun</ForeName><Initials>do H</Initials></Author><Author ValidYN="Y"><LastName>Lee</LastName><ForeName>Myung Sik</ForeName><Initials>MS</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D018680">Cholinergic Antagonists</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000328">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D018680">Cholinergic Antagonists</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000627">therapeutic use</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D020233">Gait Disorders, Neurologic</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000188">drug therapy</QualifierName><QualifierName MajorTopicYN="N" UI="Q000209">etiology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008279">Magnetic Resonance Imaging</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006211">Pantothenate Kinase-Associated Neurodegeneration</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000150">complications</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000188">drug therapy</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2007</Year><Month>11</Month><Day>14</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2008</Year><Month>5</Month><Day>9</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2007</Year><Month>11</Month><Day>14</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="doi">10.1002/mds.21799</ArticleId><ArticleId IdType="pubmed">17999425</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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