A presenilin-1 mutation (Leu392Pro) in a familial AD kindred with psychiatric symptoms at onset
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Missense mutations in the presenilin genes are implicated in the majority of early-onset familial AD (EOFAD) cases. Presenilin 1 (PS-1) is a multispanning membrane protein composed of 467 amino acids, containing six to nine transmembrane helical domains and a large hydrophilic loop between domains six and seven. To date, more than 50 missense mutations1 and a splice site mutation in PS-1 have been found to cosegregate with EOFAD. Common phenotypic features of presenilin-1 linked families include onset of memory disturbances before age 50 years, shorter disease duration, and the presence of myoclonus and generalized seizures.
We have performed a clinical and genetic screening in order to search for additional missense presenilin mutations in families with EOFAD, identifying a new family with a previously undescribed missense mutation in exon 11 leading to a Leu to Pro substitution at codon 392. This mutation was not detected in 50 unrelated subjects, indicating that this is not a common polymorphism. The members of this kindred belong to a three-generation family from central Italy ( figure). The proband, (III-1), a 38-year-old man, …
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