Abstract
We report a 44-year-old woman presenting at 33 years with memory loss, followed by progressive dementia. Her family history was negative for dominant genetic disorders at high penetrance. Analysis of presenilin-1 gene revealed a missense mutation at codon 166, leading to the substitution from leucine to histidine. The mutation occurs in the third transmembrane domain of presenilin-1, at the position of two different mutations previously described, associated with an atypical phenotype. The present case has two implications: (1) mutations of presenilin-1 have to be searched also in apparently sporadic cases of dementia beginning in the third decade of life; (2) as yet unidentified factors, besides the γ-secretase complex, influence the phenotype of presenilin-1 mutations.
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Pantieri, R., Pardini, M., Cecconi, M. et al. A novel presenilin 1 L166H mutation in a pseudo-sporadic case of early-onset Alzheimer’s disease. Neurol Sci 26, 349–350 (2005). https://doi.org/10.1007/s10072-005-0499-1
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DOI: https://doi.org/10.1007/s10072-005-0499-1