Incomplete penetrance in familial Alzheimer’s disease with PSEN1 Ala260Gly mutation
Incomplete penetrance in familial Alzheimer’s disease with PSEN1 Ala260Gly mutation
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Cham: Springer International Publishing
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Language
English
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Cham: Springer International Publishing
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Contents
Presenilin1 (PSEN1) gene is the most common known genetic cause of early-onset familial Alzheimer’s disease. We describe an Italian family with the known p.Ala260Gly mutation in PSEN1 gene. The presence of an asymptomatic 64-year-old male carrying the mutation provides evidence of a possible incomplete penetrance leading to a wider range of age at...
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Full title
Incomplete penetrance in familial Alzheimer’s disease with PSEN1 Ala260Gly mutation
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TN_cdi_proquest_miscellaneous_2394872666
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2394872666
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ISSN
1590-1874
E-ISSN
1590-3478
DOI
10.1007/s10072-020-04421-6
