An APP mutation family exhibiting white matter hyperintensities and cortical calcification in East China

This study aimed at reporting anAPP mutation and its associated clinical and neuroimaging features. The proband and her family members presented with memory loss, psychiatric, and visual symptoms. Neuroimaging revealed bilateral white matter intensities (WMH) in cranial magnetic resonance imaging (MRI), cortical calcification, and brain atrophy. Next-generation sequencing-based comprehensive gene panel revealed heterozygous missense variant c.2059A>C (p.K687Q) mutation in theAPP gene. Co-segregation analysis identified seven family members to beAPP mutation carriers while normal neuroimaging features were seen in all family members lacking theAPP mutation. WMH and cortical calcification were observed in patients with CAA, including those with the Iowa (D694N) and Italian (E693K) mutations. Further studies should investigate the functional changes associated with the heterozygousAPP mutation (K687Q).
Source: Neurological Sciences - Category: Neurology Source Type: research