Genotype does not predict severity of behavioural phenotype in juvenile neuronal ceroid lipofuscinosis (Batten disease)
| Autor: | Jennifer M. Kwon, Jonathan W. Mink, Rachel Jordan, Christopher A. Beck, Elisabeth A. de Blieck, Heather R. Adams, Frederick J. Marshall, David A. Pearce, Erika Levy, Erika F. Augustine, Amy Vierhile |
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| Rok vydání: | 2010 |
| Předmět: |
Oncology
Genetics medicine.medical_specialty Batten disease Heterozygote advantage CBCL Compound heterozygosity medicine.disease Developmental Neuroscience CLN3 Internal medicine Pediatrics Perinatology and Child Health Genotype Severity of illness medicine Neurology (clinical) Psychology Child Behavior Checklist |
| Zdroj: | Developmental Medicine & Child Neurology. 52:637-643 |
| ISSN: | 0012-1622 |
| DOI: | 10.1111/j.1469-8749.2010.03628.x |
| Popis: | Aim The primary aim of this investigation was to examine genotype and clinical phenotype differences in individuals with juvenile neuronal ceroid lipofuscinosis (JNCL) who were homozygous for a common disease-causing deletion or compound heterozygous. The secondary aim was to cross-validate the Child Behavior Checklist (CBCL) and the Unified Batten Disease Rating Scale (UBDRS), a disease-specific JNCL rating scale. Method Sixty individuals (28 males, 32 females; mean age 15y 1mo, SD 4y 9mo, range 5y 8mo–31y 1mo) with JNCL completed the UBDRS. Results No significant genotype and clinical phenotype differences were identified when comparing individuals homozygous for the deletion with a heterogeneous group of compound heterozygous individuals. There were significant correlations among related behaviour items and scales on the CBCL and UBDRS (Spearman’s rho ranging from 0.39 [p |
| Databáze: | OpenAIRE |
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