RT Journal Article
T1 Clinical rating scale for pantothenate kinase-associated neurodegeneration: A pilot study.
A1 Darling, Alejandra
A1 Tello, Cristina
A1 Martí, María Josep
A1 Garrido, Cristina
A1 Aguilera-Albesa, Sergio
A1 Tomás Vila, Miguel
A1 Gastón, Itziar
A1 Madruga, Marcos
A1 González Gutiérrez, Luis
A1 Ramos Lizana, Julio
A1 Pujol, Montserrat
A1 Gavilán Iglesias, Tania
A1 Tustin, Kylee
A1 Lin, Jean Pierre
A1 Zorzi, Giovanna
A1 Nardocci, Nardo
A1 Martorell, Loreto
A1 Lorenzo Sanz, Gustavo
A1 Gutiérrez, Fuencisla
A1 García, Pedro J
A1 Vela, Lidia
A1 Hernández Lahoz, Carlos
A1 Ortigoza Escobar, Juan Darío
A1 Martí Sánchez, Laura
A1 Moreira, Fradique
A1 Coelho, Miguel
A1 Correia Guedes, Leonor
A1 Castro Caldas, Ana
A1 Ferreira, Joaquim
A1 Pires, Paula
A1 Costa, Cristina
A1 Rego, Paulo
A1 Magalhães, Marina
A1 Stamelou, María
A1 Cuadras Pallejà, Daniel
A1 Rodríguez-Blazquez, Carmen
A1 Martínez-Martín, Pablo
A1 Lupo, Vincenzo
A1 Stefanis, Leonidas
A1 Pons, Roser
A1 Espinós, Carmen
A1 Temudo, Teresa
A1 Pérez Dueñas, Belén
K1 PKAN
K1 clinical rating scale
K1 dystonia parkinsonism
K1 neurodegeneration with brain iron accumulation
K1 pantothenate kinase-associated neurodegeneration
AB Pantothenate 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.
YR 2017
FD 2017-08-28
LK http://hdl.handle.net/10668/11532
UL http://hdl.handle.net/10668/11532
LA en
DS RISalud
RD Apr 19, 2025