Mov Disord Clin Pract
Evidera, Inc Bethesda Maryland USA.
Published: February 2019
Objective: Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal-recessive, neurodegenerative disorder with a mixed-motor phenotype caused by a defective PanK2 enzyme, for which there are few adequate treatment options. Clinimetrically sound measures of patient-reported outcomes are necessary to facilitate therapeutic development for this debilitating disease. This study's objective was to develop such a scale and assess its clinimetric properties.
Methods: A conceptually driven, iterative, content development process incorporating input from experts, caregivers, and patients was used. Scale items were initially adapted from the Unified Parkinson's Disease Rating Scale (UPDRS) Part II resulting in the 12-item Pantothenate Kinase-Associated Neurodegeneration Activities of Daily Living (PKAN-ADL). The PKAN-ADL scale was administered to caregivers (n = 37) and patients (n = 2) twice over 2 weeks, along with selected Quality of Life in Neurological Disorders (Neuro-QoL) measures, selected attributes of the Health Utilities Index (HUI)-2/3, and the Stroke Aphasia Depression Questionnaire (SADQ-10) to assess construct validity.
Results: Internal consistency was 0.93, with excellent test-retest reliability (intraclass correlation coefficient = 0.99). Of the 12 items, 25% (n = 3) showed a ceiling effect >30% (range, 31-54) and 42% (n = 5) showed a floor effect >30% (range, 31-46), reflecting disease heterogeneity. Convergent validity was shown with Neuro-QoL measures (s > 0.90) and HUI-2/3 attributes (s ≥ 0.48); divergent validity was demonstrated with the SADQ-10 ( = 0.11). Participants reported a high level of comprehension (98%), and average item relevance ratings (0-10 scale) ranged from 7.0 to 9.9.
Conclusion: The PKAN-ADL scale demonstrated acceptable content validity, with evidence of construct validity and excellent reliability. Overall results support the use of the PKAN-ADL scale in clinical trials.
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http://dx.doi.org/10.1002/mdc3.12716 | DOI Listing |
Postep Psychiatr Neurol
September 2024
Independent Public Health Care Institution named after doctor Kazimierz Hołoga, Nowy Tomyśl, Poland.
Purpose: The purpose of this review is to present current scientific reports on the pathophysiology, diagnosis and treatment of pantothenate kinase-associated neurodegeneration (PKAN).
Views: The condition is caused by a mutation in the PANK2 gene, which results in iron accumulation in the brain and changes in the functioning of biochemical pathways dependent on coenzyme A. There are two clinical types of PKAN, which differ in the time of onset of symptoms and speed of disease progression.
Orphanet J Rare Dis
November 2024
Andalusian Centre for Developmental Biology-CSIC-Pablo de Olavide University, 41013, Seville, Spain.
Front Hum Neurosci
October 2024
Department of Neurology, Shenzhen People's Hospital (The Second Clinical Medical College, Jinan University, The First Affiliated Hospital Southern University of Science and Technology), Shenzhen, China.
Pantothenate kinase-associated neurodegeneration (PKAN) is a rare autosomal recessive hereditary neurodegenerative disorder, usually caused by mutations in the pantothenate kinase 2 (PANK2) gene. We report a young female patient with atypical PKAN, harboring a novel heterozygous PANK2 mutation, diagnosed through clinical imaging and genetic analysis. The patient presented with dystonia and motor dysfunction after onset, but early brain MRI showed normal findings.
View Article and Find Full Text PDFTremor Other Hyperkinet Mov (N Y)
October 2024
Norman Fixel Institute for Neurological Diseases, University of Florida, Gainesville, Florida, USA.
Clinical Vignette: A 23-year-old woman with pantothenate kinase-associated neurodegeneration (PKAN) presented with medication-refractory generalized dystonia and an associated gait impairment.
Clinical Dilemma: Bilateral globus pallidus internus (GPi) deep brain stimulation (DBS) can be an effective treatment for dystonia. However, outcomes for PKAN DBS have been variable and there are no standardized criteria for patient selection.
Biochim Biophys Acta Mol Basis Dis
January 2025
Laboratory of Mitochondrial Biology and Metabolism, Nencki Institute of Experimental Biology, Polish Academy of Sciences, Warsaw, Poland. Electronic address:
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