. Early onset familial Alzheimer Disease with spastic paraparesis, dysarthria, and seizures and N135S mutation in PSEN1. Alzheimer Dis Assoc Disord. 2008 Jul-Sep;22(3):299-307. PubMed.

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  1. This paper confirms that very early onset FAD is generally clinically atypical. Note that these patients were affected by a full-blown tauopathy, unfortunately poorly documented in the paper.

    One can guess that the specific clinical features are essentially explained by the distribution of neurofibrillary degeneration, and not by the subtypes of Aβ deposition.

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Mutations

  1. PSEN1 N135S