Sensory Tricks in Pantothenate Kinase-Associated Neurodegeneration: Video-Analysis of 43 Patients

Background Sensory tricks are a classic hallmark of primary dystonia and result in specific maneuvers that temporarily improve dystonic posture or movement. Pantothenate kinase-associated neurodegeneration (PKAN) is a progressive neurological disorder that courses with prominent dystonia. Although p...

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Authors: Martins, J, Darling, A, Garrido, C, Espinos, C, Marti, MJ, Duenas, BP, Temudo, T
Format: article
Status:Published version
Publication Date:2019
Country:España
Institution:Centro de Investigación Principe Felipe (CIPF)
Repository:r-CIPF. Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
OAI Identifier:oai:cipf.fundanetsuite.com:p3377
Online Access:https://cipf.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=3377
Access Level:Open access
Keyword:sensory tricks
alleviating maneuvers
PKAN
secondary dystonia
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spelling Sensory Tricks in Pantothenate Kinase-Associated Neurodegeneration: Video-Analysis of 43 PatientsMartins, JDarling, AGarrido, CEspinos, CMarti, MJDuenas, BPTemudo, Tsensory tricksalleviating maneuversPKANsecondary dystoniaBackground Sensory tricks are a classic hallmark of primary dystonia and result in specific maneuvers that temporarily improve dystonic posture or movement. Pantothenate kinase-associated neurodegeneration (PKAN) is a progressive neurological disorder that courses with prominent dystonia. Although previously described, sensory tricks are considered to be rare in PKAN. Cases We reviewed videotaped motor examinations of 43 genetically confirmed patients with PKAN in order to identify and classify sensory tricks. All patients presented some feature of dystonia. Eighteen (42%) had one or more well-structured sensory tricks. Twelve different sensory tricks were identified, eight typical and four atypical (forcible motor): four in cervical dystonia, four in limb dystonia, three in oromandibular dystonia, and one in blepharospasm. A characteristic forcible motor maneuver for oromandibular dystonia (previously described as the "mantis sign") was present in 8 patients. Conclusions Sensory tricks are common in PKAN, particularly for oromandibular dystonia. The mantis sign may be a useful clue for the diagnosis.WILEY2019info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttps://cipf.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=3377Movement Disorders Clinical PracticeISSN: 23301619reponame:r-CIPF. Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)instname:Centro de Investigación Principe Felipe (CIPF)Inglésinfo:eu-repo/semantics/openAccessoai:cipf.fundanetsuite.com:p33772026-06-17T11:19:47Z
dc.title.none.fl_str_mv Sensory Tricks in Pantothenate Kinase-Associated Neurodegeneration: Video-Analysis of 43 Patients
title Sensory Tricks in Pantothenate Kinase-Associated Neurodegeneration: Video-Analysis of 43 Patients
spellingShingle Sensory Tricks in Pantothenate Kinase-Associated Neurodegeneration: Video-Analysis of 43 Patients
Martins, J
sensory tricks
alleviating maneuvers
PKAN
secondary dystonia
title_short Sensory Tricks in Pantothenate Kinase-Associated Neurodegeneration: Video-Analysis of 43 Patients
title_full Sensory Tricks in Pantothenate Kinase-Associated Neurodegeneration: Video-Analysis of 43 Patients
title_fullStr Sensory Tricks in Pantothenate Kinase-Associated Neurodegeneration: Video-Analysis of 43 Patients
title_full_unstemmed Sensory Tricks in Pantothenate Kinase-Associated Neurodegeneration: Video-Analysis of 43 Patients
title_sort Sensory Tricks in Pantothenate Kinase-Associated Neurodegeneration: Video-Analysis of 43 Patients
dc.creator.none.fl_str_mv Martins, J
Darling, A
Garrido, C
Espinos, C
Marti, MJ
Duenas, BP
Temudo, T
author Martins, J
author_facet Martins, J
Darling, A
Garrido, C
Espinos, C
Marti, MJ
Duenas, BP
Temudo, T
author_role author
author2 Darling, A
Garrido, C
Espinos, C
Marti, MJ
Duenas, BP
Temudo, T
author2_role author
author
author
author
author
author
dc.subject.none.fl_str_mv sensory tricks
alleviating maneuvers
PKAN
secondary dystonia
topic sensory tricks
alleviating maneuvers
PKAN
secondary dystonia
description Background Sensory tricks are a classic hallmark of primary dystonia and result in specific maneuvers that temporarily improve dystonic posture or movement. Pantothenate kinase-associated neurodegeneration (PKAN) is a progressive neurological disorder that courses with prominent dystonia. Although previously described, sensory tricks are considered to be rare in PKAN. Cases We reviewed videotaped motor examinations of 43 genetically confirmed patients with PKAN in order to identify and classify sensory tricks. All patients presented some feature of dystonia. Eighteen (42%) had one or more well-structured sensory tricks. Twelve different sensory tricks were identified, eight typical and four atypical (forcible motor): four in cervical dystonia, four in limb dystonia, three in oromandibular dystonia, and one in blepharospasm. A characteristic forcible motor maneuver for oromandibular dystonia (previously described as the "mantis sign") was present in 8 patients. Conclusions Sensory tricks are common in PKAN, particularly for oromandibular dystonia. The mantis sign may be a useful clue for the diagnosis.
publishDate 2019
dc.date.none.fl_str_mv 2019
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://cipf.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=3377
url https://cipf.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=3377
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv WILEY
publisher.none.fl_str_mv WILEY
dc.source.none.fl_str_mv Movement Disorders Clinical Practice
ISSN: 23301619
reponame:r-CIPF. Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
instname:Centro de Investigación Principe Felipe (CIPF)
instname_str Centro de Investigación Principe Felipe (CIPF)
reponame_str r-CIPF. Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
collection r-CIPF. Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15.812455

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