Bibliographic Details
| Title: |
SORL1 mutation in a Greek family with Parkinson's disease and dementia |
| Authors: |
Georgia Xiromerisiou, Thomas Bourinaris, Henry Houlden, Patrick A. Lewis, Konstantin Senkevich, Monia Hammer, Monica Federoff, Alaa Khan, Cleanthe Spanaki, Georgios M. Hadjigeorgiou, Sevasti Bonstanjopoulou, Liana Fidani, Aleksey Ermolaev, Ziv Gan‐Or, Andrew Singleton, Jana Vandrovcova, John Hardy |
| Source: |
Annals of Clinical and Translational Neurology, Vol 8, Iss 10, Pp 1961-1969 (2021) |
| Publisher Information: |
Wiley, 2021. |
| Publication Year: |
2021 |
| Collection: |
LCC:Neurosciences. Biological psychiatry. Neuropsychiatry
LCC:Neurology. Diseases of the nervous system |
| Subject Terms: |
Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429 |
| More Details: |
Abstract Whole exome sequencing and linkage analysis were performed in a three generational pedigree of Greek origin with a broad phenotypic spectrum spanning from Parkinson’s disease and Parkinson’s disease dementia to dementia of mixed type (Alzheimer disease and vascular dementia). We identified a novel heterozygous c.G1135T (p.G379W) variant in SORL1 which segregated with the disease in the family. Mutation screening in sporadic Greek PD cases identified one additional individual with the mutation, sharing the same 12.8Mb haplotype. Our findings provide support for SORL1 mutations resulting in a broad range of additional phenotypes and warrants further studies in neurodegenerative diseases beyond AD. |
| Document Type: |
article |
| File Description: |
electronic resource |
| Language: |
English |
| ISSN: |
2328-9503 |
| Relation: |
https://doaj.org/toc/2328-9503 |
| DOI: |
10.1002/acn3.51433 |
| Access URL: |
https://doaj.org/article/9110094f166e4dba91ed8d6a0740bbee |
| Accession Number: |
edsdoj.9110094f166e4dba91ed8d6a0740bbee |
| Database: |
Directory of Open Access Journals |
