A heterozygous de novo PSEN1 mutation in a patient with early-onset parkinsonism
A heterozygous de novo PSEN1 mutation in a patient with early-onset parkinsonism
About this item
Full title
Author / Creator
Chen, Yueting , Liu, Peng , Xie, Fei , Wang, Bo , Lin, Zhiru and Luo, Wei
Publisher
Cham: Springer International Publishing
Journal title
Language
English
Formats
Publication information
Publisher
Cham: Springer International Publishing
Subjects
More information
Scope and Contents
Contents
Background
Mutations in presenilin 1 (
PSEN1
) are the most common known genetic cause of early-onset Alzheimer’s disease. Patients with
PSEN1
mutations exhibit broad phenotypes. Here, we report clinical, neuroimaging and genetic findings in a patient with a de novo mutation in
PSEN1
(c.697A > G, p.M233V) presenting with early-...
Alternative Titles
Full title
A heterozygous de novo PSEN1 mutation in a patient with early-onset parkinsonism
Authors, Artists and Contributors
Author / Creator
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_2604467718
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2604467718
Other Identifiers
ISSN
1590-1874
E-ISSN
1590-3478
DOI
10.1007/s10072-021-05726-w
