An Iranian family with Alzheimer’s disease caused by a novel APP mutation (Thr714Ala)

Despite the fact that APP mutations were the first described cause of AD,1 relatively few pathogenic mutations have been described. In this article, we describe the occurrence of a novel APP mutation (T714A) in an Iranian family with nine documented affected individuals in three generations. The phenotype in this family is similar to that of many of the other families with APP mutations, with an average onset age of approximately 55 years. A family with multiple members affected by progressive dementia was identified in northern Iran (see the figure). The average age at onset of dementia was in approximately 55 years with a disease progression lasting 2 to 10 years. The clinical features and age at onset were reminiscent of the first family described with APP mutations.1,2⇓ We briefly describe the clinical features of the family and the identification of the pathogenic mutation and discuss the …