Publication:
Clinical rating scale for pantothenate kinase-associated neurodegeneration: A pilot study.

dc.contributor.authorDarling, Alejandra
dc.contributor.authorTello, Cristina
dc.contributor.authorMartí, María Josep
dc.contributor.authorGarrido, Cristina
dc.contributor.authorAguilera-Albesa, Sergio
dc.contributor.authorTomás Vila, Miguel
dc.contributor.authorGastón, Itziar
dc.contributor.authorMadruga, Marcos
dc.contributor.authorGonzález Gutiérrez, Luis
dc.contributor.authorRamos Lizana, Julio
dc.contributor.authorPujol, Montserrat
dc.contributor.authorGavilán Iglesias, Tania
dc.contributor.authorTustin, Kylee
dc.contributor.authorLin, Jean Pierre
dc.contributor.authorZorzi, Giovanna
dc.contributor.authorNardocci, Nardo
dc.contributor.authorMartorell, Loreto
dc.contributor.authorLorenzo Sanz, Gustavo
dc.contributor.authorGutiérrez, Fuencisla
dc.contributor.authorGarcía, Pedro J
dc.contributor.authorVela, Lidia
dc.contributor.authorHernández Lahoz, Carlos
dc.contributor.authorOrtigoza Escobar, Juan Darío
dc.contributor.authorMartí Sánchez, Laura
dc.contributor.authorMoreira, Fradique
dc.contributor.authorCoelho, Miguel
dc.contributor.authorCorreia Guedes, Leonor
dc.contributor.authorCastro Caldas, Ana
dc.contributor.authorFerreira, Joaquim
dc.contributor.authorPires, Paula
dc.contributor.authorCosta, Cristina
dc.contributor.authorRego, Paulo
dc.contributor.authorMagalhães, Marina
dc.contributor.authorStamelou, María
dc.contributor.authorCuadras Pallejà, Daniel
dc.contributor.authorRodríguez-Blazquez, Carmen
dc.contributor.authorMartínez-Martín, Pablo
dc.contributor.authorLupo, Vincenzo
dc.contributor.authorStefanis, Leonidas
dc.contributor.authorPons, Roser
dc.contributor.authorEspinós, Carmen
dc.contributor.authorTemudo, Teresa
dc.contributor.authorPérez Dueñas, Belén
dc.date.accessioned2023-01-25T09:51:13Z
dc.date.available2023-01-25T09:51:13Z
dc.date.issued2017-08-28
dc.description.abstractPantothenate kinase-associated neurodegeneration is a progressive neurological disorder occurring in both childhood and adulthood. The objective of this study was to design and pilot-test a disease-specific clinical rating scale for the assessment of patients with pantothenate kinase-associated neurodegeneration. In this international cross-sectional study, patients were examined at the referral centers following a standardized protocol. The motor examination was filmed, allowing 3 independent specialists in movement disorders to analyze 28 patients for interrater reliability assessment. The scale included 34 items (maximal score, 135) encompassing 6 subscales for cognition, behavior, disability, parkinsonism, dystonia, and other neurological signs. Forty-seven genetically confirmed patients (30 ± 17 years; range, 6-77 years) were examined with the scale (mean score, 62 ± 21; range, 20-106). Dystonia with prominent cranial involvement and atypical parkinsonian features were present in all patients. Other common signs were cognitive impairment, psychiatric features, and slow and hypometric saccades. Dystonia, parkinsonism, and other neurological features had a moderate to strong correlation with disability. The scale showed good internal consistency for the total scale (Cronbach's α = 0.87). On interrater analysis, weighted kappa values (0.30-0.93) showed substantial or excellent agreement in 85% of the items. The scale also discriminated a subgroup of homozygous c.1583C>T patients with lower scores, supporting construct validity for the scale. The proposed scale seems to be a reliable and valid instrument for the assessment of pediatric and adult patients with pantothenate kinase-associated neurodegeneration. Additional validation studies with a larger sample size will be required to confirm the present results and to complete the scale validation testing. © 2017 International Parkinson and Movement Disorder Society.
dc.identifier.doi10.1002/mds.27129
dc.identifier.essn1531-8257
dc.identifier.pmid28845923
dc.identifier.unpaywallURLhttps://comum.rcaap.pt/bitstream/10400.26/34650/1/Clinical%20Rating%20Scale%20for%20Pantothenate%20Kinase-Associated.pdf
dc.identifier.urihttp://hdl.handle.net/10668/11532
dc.issue.number11
dc.journal.titleMovement disorders : official journal of the Movement Disorder Society
dc.journal.titleabbreviationMov Disord
dc.language.isoen
dc.organizationHospital Torrecárdenas
dc.organizationHospital Universitario Virgen del Rocío
dc.page.number1620-1630
dc.pubmedtypeJournal Article
dc.pubmedtypeMulticenter Study
dc.rights.accessRightsopen access
dc.subjectPKAN
dc.subjectclinical rating scale
dc.subjectdystonia parkinsonism
dc.subjectneurodegeneration with brain iron accumulation
dc.subjectpantothenate kinase-associated neurodegeneration
dc.subject.meshAdolescent
dc.subject.meshAdult
dc.subject.meshAged
dc.subject.meshChild
dc.subject.meshCognitive Dysfunction
dc.subject.meshCross-Sectional Studies
dc.subject.meshDisabled Persons
dc.subject.meshDystonia
dc.subject.meshHumans
dc.subject.meshMental Disorders
dc.subject.meshMiddle Aged
dc.subject.meshOcular Motility Disorders
dc.subject.meshPantothenate Kinase-Associated Neurodegeneration
dc.subject.meshParkinsonian Disorders
dc.subject.meshPilot Projects
dc.subject.meshReproducibility of Results
dc.subject.meshSeverity of Illness Index
dc.subject.meshYoung Adult
dc.titleClinical rating scale for pantothenate kinase-associated neurodegeneration: A pilot study.
dc.typeresearch article
dc.type.hasVersionSMUR
dc.volume.number32
dspace.entity.typePublication
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