Sensory Tricks in Pantothenate Kinase-Associated Neurodegeneration: Video-Analysis of 43 Patients
Por:
J. MARTINS, A. DARLING, C. GARRIDO, C. ESPINOS, M. MARTI, B. DUENAS and T. TEMUDO
Publicada:
1 nov 2019
Ahead of Print:
1 oct 2019
Resumen:
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.
Filiaciones:
J. MARTINS:
Ctr Hosp Univ Porto, Ctr Matemo Infant Norte, Pediat Neurol Dept, P-4050651 Porto, Portugal
A. DARLING:
Hosp St Joan de Deu, Pediat Movement Disorders Unit, Barcelona, Spain
C. GARRIDO:
Ctr Hosp Univ Porto, Ctr Matemo Infant Norte, Pediat Neurol Dept, P-4050651 Porto, Portugal
:
Ctr Invest Principe Felipe, Genet & Genom Neuromuscular & Neurodegenerat Diso, Valencia, Spain
M. MARTI:
Univ Barcelona, Hosp Clin, Parkinsons Dis & Movement Disorders Unit, CIBERNED,IDIBAPS,Neurol Serv,ICN, Barcelona, Spain
B. DUENAS:
Univ Autonoma Barcelona, Hosp Vall dHebron, Pediat Neurol Dept, Vall dHebron Res Inst, Barcelona, Spain
T. TEMUDO:
Ctr Hosp Univ Porto, Ctr Matemo Infant Norte, Pediat Neurol Dept, P-4050651 Porto, Portugal
Green Published, Bronze
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