{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T08:42:57Z","timestamp":1790671377586,"version":"4.1.0"},"reference-count":45,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2017,8,28]],"date-time":"2017-08-28T00:00:00Z","timestamp":1503878400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004895","name":"European Social Fund","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004895","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2017,11]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Pantothenate kinase\u2010associated neurodegeneration is a progressive neurological disorder occurring in both childhood and adulthood. The objective of this study was to design and pilot\u2010test a disease\u2010specific clinical rating scale for the assessment of patients with pantothenate kinase\u2010associated neurodegeneration.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>In this international cross\u2010sectional 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.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Forty\u2010seven genetically confirmed patients (30 \u00b1 17 years; range, 6\u201077 years) were examined with the scale (mean score, 62 \u00b1 21; range, 20\u2010106). 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 \u03b1 = 0.87). On interrater analysis, weighted kappa values (0.30\u20100.93) showed substantial or excellent agreement in 85% of the items. The scale also discriminated a subgroup of homozygous c.1583C&gt;T patients with lower scores, supporting construct validity for the scale.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>The proposed scale seems to be a reliable and valid instrument for the assessment of pediatric and adult patients with pantothenate kinase\u2010associated neurodegeneration. Additional validation studies with a larger sample size will be required to confirm the present results and to complete the scale validation testing. \u00a9 2017 International Parkinson and Movement Disorder Society<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mds.27129","type":"journal-article","created":{"date-parts":[[2017,8,28]],"date-time":"2017-08-28T05:32:42Z","timestamp":1503898362000},"page":"1620-1630","source":"Crossref","is-referenced-by-count":28,"title":["Clinical rating scale for pantothenate kinase\u2010associated neurodegeneration: A pilot study"],"prefix":"10.1002","volume":"32","author":[{"given":"Alejandra","family":"Darling","sequence":"first","affiliation":[{"name":"Unit of Pediatric Movement Disorders Hospital Sant Joan de D\u00e9u Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"Tello","sequence":"additional","affiliation":[{"name":"Unit of Genetics and Genomics of Neuromuscular and Neurodegenerative Disorders Centro de Investigaci\u00f3n Pr\u00edncipe Felipe Valencia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda Josep","family":"Mart\u00ed","sequence":"additional","affiliation":[{"name":"Neurology Department, Hospital Cl\u00ednic de Barcelona, Institut d'Investigacions Biomediques IDIBAPS. 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