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Clinical rating scale for pantothenate kinase‐associated neurodegeneration: A pilot study
Movement disorders, 2017-11, Vol.32 (11), p.1620-1630
Darling, Alejandra
Tello, Cristina
Martí, María Josep
Garrido, Cristina
Aguilera‐Albesa, Sergio
Tomás Vila, Miguel
Gastón, Itziar
Madruga, Marcos
González Gutiérrez, Luis
Ramos Lizana, Julio
Pujol, Montserrat
Gavilán Iglesias, Tania
Tustin, Kylee
Lin, Jean Pierre
Zorzi, Giovanna
Nardocci, Nardo
Martorell, Loreto
Lorenzo Sanz, Gustavo
Gutiérrez, Fuencisla
García, Pedro J.
Vela, Lidia
Hernández Lahoz, Carlos
Ortigoza Escobar, Juan Darío
Martí Sánchez, Laura
Moreira, Fradique
Coelho, Miguel
Correia Guedes, Leonor
Castro Caldas, Ana
Ferreira, Joaquim
Pires, Paula
Costa, Cristina
Rego, Paulo
Magalhães, Marina
Stamelou, María
Cuadras Pallejà, Daniel
Rodríguez‐Blazquez, Carmen
Martínez‐Martín, Pablo
Lupo, Vincenzo
Stefanis, Leonidas
Pons, Roser
Espinós, Carmen
Temudo, Teresa
Pérez Dueñas, Belén
2017
Volltextzugriff (PDF)
Details
Autor(en) / Beteiligte
Darling, Alejandra
Tello, Cristina
Martí, María Josep
Garrido, Cristina
Aguilera‐Albesa, Sergio
Tomás Vila, Miguel
Gastón, Itziar
Madruga, Marcos
González Gutiérrez, Luis
Ramos Lizana, Julio
Pujol, Montserrat
Gavilán Iglesias, Tania
Tustin, Kylee
Lin, Jean Pierre
Zorzi, Giovanna
Nardocci, Nardo
Martorell, Loreto
Lorenzo Sanz, Gustavo
Gutiérrez, Fuencisla
García, Pedro J.
Vela, Lidia
Hernández Lahoz, Carlos
Ortigoza Escobar, Juan Darío
Martí Sánchez, Laura
Moreira, Fradique
Coelho, Miguel
Correia Guedes, Leonor
Castro Caldas, Ana
Ferreira, Joaquim
Pires, Paula
Costa, Cristina
Rego, Paulo
Magalhães, Marina
Stamelou, María
Cuadras Pallejà, Daniel
Rodríguez‐Blazquez, Carmen
Martínez‐Martín, Pablo
Lupo, Vincenzo
Stefanis, Leonidas
Pons, Roser
Espinós, Carmen
Temudo, Teresa
Pérez Dueñas, Belén
Titel
Clinical rating scale for pantothenate kinase‐associated neurodegeneration: A pilot study
Ist Teil von
Movement disorders, 2017-11, Vol.32 (11), p.1620-1630
Ort / Verlag
United States: Wiley Subscription Services, Inc
Erscheinungsjahr
2017
Quelle
Wiley Online Library Journals Frontfile Complete
Beschreibungen/Notizen
ABSTRACT 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
Sprache
Englisch
Identifikatoren
ISSN: 0885-3185
eISSN: 1531-8257
DOI: 10.1002/mds.27129
Titel-ID: cdi_proquest_miscellaneous_1933229461
Format
–
Schlagworte
Adolescent
,
Adult
,
Aged
,
Basal ganglia
,
Central nervous system diseases
,
Child
,
Children
,
clinical rating scale
,
Cognitive ability
,
Cognitive Dysfunction - diagnosis
,
Cognitive Dysfunction - etiology
,
Cross-Sectional Studies
,
Disabled Persons
,
Dystonia
,
Dystonia - diagnosis
,
Dystonia - etiology
,
dystonia parkinsonism
,
Humans
,
Mental Disorders - diagnosis
,
Mental Disorders - etiology
,
Middle Aged
,
Movement disorders
,
Neurodegeneration
,
neurodegeneration with brain iron accumulation
,
Ocular Motility Disorders - diagnosis
,
Ocular Motility Disorders - etiology
,
Pantothenate kinase
,
Pantothenate Kinase-Associated Neurodegeneration - complications
,
Pantothenate Kinase-Associated Neurodegeneration - diagnosis
,
Pantothenate Kinase-Associated Neurodegeneration - genetics
,
pantothenate kinase‐associated neurodegeneration
,
Parkinsonian Disorders - diagnosis
,
Parkinsonian Disorders - etiology
,
Pilot Projects
,
PKAN
,
Reproducibility of Results
,
Severity of Illness Index
,
Skull
,
Young Adult
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