Journal
ANNALS OF NEUROLOGY
Volume 80, Issue 3, Pages 456-460Publisher
WILEY-BLACKWELL
DOI: 10.1002/ana.24727
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Funding
- March of Dimes [6-FY12-324]
- UCLA Children's Discovery Institute
- UCLA Center for Autism Research and Treatment (NIH National Institute of Child Health and Human Development) [P50-HD-055784]
- UCLA Clinical and Translational Science Institute (NIH National Center for Advancing Translation Sciences) [UL1TR000124]
- Autism Speaks [9172]
- UCLA-Caltech (NIH Medical Scientist Training Program) [T32GM008042]
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Dominant missense mutations in the amyloid (A) precursor protein (APP) gene have been implicated in early onset Alzheimer disease. These mutations alter protein structure to favor the pathologic production of A. We report that homozygous nonsense mutations in APP are associated with decreased somatic growth, microcephaly, hypotonia, developmental delay, thinning of the corpus callosum, and seizures. We compare the phenotype of this case to those reported in mouse models and demonstrate multiple similarities, strengthening the role of amyloid precursor protein in normal brain function and development. Ann Neurol 2016;80:456-460
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