Truncating mutations in APP cause a distinct neurological phenotype.
case_report · Level V
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- Record sourced from PubMed, PMID 27422356.
- Also identified by DOI 10.1002/ana.24727 and PMC identifier 7034636.
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Abstract
Dominant missense mutations in the amyloid β (Aβ) precursor protein (APP) gene have been implicated in early onset Alzheimer disease. These mutations alter protein structure to favor the pathologic production of Aβ. 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.
Medical subject headings
- Amyloid beta-Protein Precursor
- Corpus Callosum
- Developmental Disabilities
- Microcephaly
- Muscle Hypotonia
- Seizures