1 40 1 Text A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text. Citation List Month Backlog URL Address <a href="http://doi.org/10.1002/ajmg.10660" target="_blank" rel="noreferrer">http://doi.org/10.1002/ajmg.10660</a> Dublin Core The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/. Title A name given to the resource Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutations Publisher An entity responsible for making the resource available American Journal Of Medical Genetics Date A point or period of time associated with an event in the lifecycle of the resource 2002 Subject The topic of the resource Mutation; Severity of Illness Index; Longitudinal Studies; DNA Mutational Analysis; DNA/chemistry/genetics; Endopeptidases; Neuronal Ceroid-Lipofuscinoses/genetics/pathology/physiopathology; Peptide Hydrolases/genetics/metabolism; Psychomotor Performance/physiology; Seizures/physiopathology; Vision/physiology Creator An entity primarily responsible for making the resource Steinfeld R; Heim P; von Gregory H; Meyer K; Ullrich K; Goebel HH; Kohlschutter A Description An account of the resource We examined 26 individuals with clinical and electron microscopic signs of late infantile neuronal ceroid lipofuscinosis (LINCL). In 22 cases, we found both pathogenic alleles. Sixteen patients exclusively carried either one or a combination of the two common mutations R208X and IVS5-1G > C. In the remaining cases, four missense mutations could be detected, of which R127Q, N286S, and T353P represent novel, previously not described alleles. A clinical performance score was developed by rating motor, visual, and verbal functions and the incidence of cerebral seizures in 3-month intervals during the course of the disease. A Total Disability Score was derived by summing up the single scores for motor, visual, and verbal functions. The 16 individuals with the two common mutations were grouped together (referred to as standard patients), and the 5th, 50th, and 95th centiles were calculated and graphically depicted over time. The scores for motor function and language ability dropped earliest and progressed very similarly in the standard patients. The performance curves of two children with the N286S mutation slightly diverged from the 95th centile. However, the performance curves of one patient with atypical LINCL carrying the R127Q mutation fell far beyond the 95th centile. The presented performance rating clearly and quantitatively delineates the disease course of the LINCL patients and hence offers a useful tool for clinical evaluation of future therapeutic interventions. In addition, the described performance score system can be applied to other types of neuronal ceroid lipofuscinoses and could be adapted to various other neurodegenerative diseases of childhood. 2002 Identifier An unambiguous reference to the resource within a given context <a href="http://doi.org/10.1002/ajmg.10660" target="_blank" rel="noreferrer">10.1002/ajmg.10660</a> Rights Information about rights held in and over the resource Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s). Type The nature or genre of the resource Journal Article 2002 American Journal Of Medical Genetics Backlog DNA Mutational Analysis DNA/chemistry/genetics Endopeptidases Goebel HH Heim P Journal Article Kohlschutter A Longitudinal Studies Meyer K Mutation Neuronal Ceroid-Lipofuscinoses/genetics/pathology/physiopathology Peptide Hydrolases/genetics/metabolism Psychomotor Performance/physiology Seizures/physiopathology Severity Of Illness Index Steinfeld R Ullrich K Vision/physiology von Gregory H