Clinical rating scale for pantothenate kinase‐associated neurodegeneration: A pilot study
2017; Wiley; Volume: 32; Issue: 11 Linguagem: Inglês
10.1002/mds.27129
ISSN1531-8257
AutoresAlejandra Darling, Cristina Tello, M. J. Martí, Cristina Garrido, Sergio Aguilera, Miguel Tomás Vila, Itziar Gastón, Marcos Madruga, Luis González Gutiérrez, Julio Ramos Lizana, Montserrat Pujol, Tania Gavilán Iglesias, Kylee Tustin, Jean‐Pierre Lin, Giovanna Zorzi, Nardo Nardocci, Loreto Martorell, Gustavo Lorenzo, Fuencisla Gutiérrez, Pedro José González García, Lydia Vela, Carlos Hernández Lahoz, Juan Darío Ortigoza‐Escobar, Laura Martí‐Sánchez, Fradique Moreira, Miguel Coelho, Leonor Correia Guedes, Ana Castro Caldas, Joaquim J. Ferreira, Paula Pires, Cristina Costa, P Sousa, Marina Magalhães, María Stamelou, Daniel Cuadras, Carmen Rodríguez–Blázquez, Pablo Martínez‐Martín, Vincenzo Lupo, Leonidas Stefanis, Roser Pons, Carmen Espinós, Teresa Temudo, Belén Pérez‐Dueñas,
Tópico(s)RNA regulation and disease
ResumoABSTRACT Background 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. Methods 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. Results 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. Conclusions 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
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