We report the presenilin 1 (PSEN1) Thr354Ile mutation in an Alzheimer’s disease (AD) patient with uncommon clinical features. Although the mutation has already been reported [1], only one phenotypic description could be found in literature [2]. Our patient is a 59-year-old women and she worked as a piano teacher in the conservatory and as a concert performer.
A case of atypical early-onset Alzheimer’s disease carrying the missense mutation Thr354Ile in exon 10 of the PSEN1 gene / Sandro Marini; Giulia Lucidi; Andrea Tedde; Valentina Bessi;Benedetta Nacmias. - In: NEUROLOGICAL SCIENCES. - ISSN 1590-1874. - STAMPA. - 34:(2012), pp. 1691-1692. [10.1007/s10072-012-1260-1]
A case of atypical early-onset Alzheimer’s disease carrying the missense mutation Thr354Ile in exon 10 of the PSEN1 gene
Giulia Lucidi;TEDDE, ANDREA;BESSI, VALENTINA;NACMIAS, BENEDETTA
2012
Abstract
We report the presenilin 1 (PSEN1) Thr354Ile mutation in an Alzheimer’s disease (AD) patient with uncommon clinical features. Although the mutation has already been reported [1], only one phenotypic description could be found in literature [2]. Our patient is a 59-year-old women and she worked as a piano teacher in the conservatory and as a concert performer.
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