Mostra i principali dati dell'item
SORL1 mutation in a Greek family with Parkinson's disease and dementia
dc.creator | Xiromerisiou G., Bourinaris T., Houlden H., Lewis P.A., Senkevich K., Hammer M., Federoff M., Khan A., Spanaki C., Hadjigeorgiou G.M., Bonstanjopoulou S., Fidani L., Ermolaev A., Gan-Or Z., Singleton A., Vandrovcova J., Hardy J. | en |
dc.date.accessioned | 2023-01-31T11:37:41Z | |
dc.date.available | 2023-01-31T11:37:41Z | |
dc.date.issued | 2021 | |
dc.identifier | 10.1002/acn3.51433 | |
dc.identifier.issn | 23289503 | |
dc.identifier.uri | http://hdl.handle.net/11615/80853 | |
dc.description.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. © 2021 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association | en |
dc.language.iso | en | en |
dc.source | Annals of Clinical and Translational Neurology | en |
dc.source.uri | https://www.scopus.com/inward/record.uri?eid=2-s2.0-85114607161&doi=10.1002%2facn3.51433&partnerID=40&md5=85b9ef08a369075c261e843cd7a0f440 | |
dc.subject | carbidopa | en |
dc.subject | carbidopa plus levodopa | en |
dc.subject | levodopa | en |
dc.subject | carrier protein | en |
dc.subject | low density lipoprotein receptor related protein | en |
dc.subject | SORL1 protein, human | en |
dc.subject | adult | en |
dc.subject | apathy | en |
dc.subject | Article | en |
dc.subject | autonomic dysfunction | en |
dc.subject | bradykinesia | en |
dc.subject | cerebrovascular accident | en |
dc.subject | clinical feature | en |
dc.subject | cognition assessment | en |
dc.subject | constipation | en |
dc.subject | cortical dysplasia | en |
dc.subject | dementia | en |
dc.subject | depression | en |
dc.subject | dyskinesia | en |
dc.subject | gene | en |
dc.subject | gene frequency | en |
dc.subject | gene mutation | en |
dc.subject | genetic analysis | en |
dc.subject | genetic association | en |
dc.subject | genetic susceptibility | en |
dc.subject | genotype | en |
dc.subject | haplotype | en |
dc.subject | heterozygosity | en |
dc.subject | human | en |
dc.subject | linkage analysis | en |
dc.subject | male | en |
dc.subject | middle aged | en |
dc.subject | Mini Mental State Examination | en |
dc.subject | nuclear magnetic resonance imaging | en |
dc.subject | Parkinson disease | en |
dc.subject | phenotype | en |
dc.subject | protein structure | en |
dc.subject | protein targeting | en |
dc.subject | Sanger sequencing | en |
dc.subject | single nucleotide polymorphism | en |
dc.subject | sleep disorder | en |
dc.subject | smelling disorder | en |
dc.subject | SORL1 gene | en |
dc.subject | tremor | en |
dc.subject | Unified Parkinson Disease Rating Scale | en |
dc.subject | whole exome sequencing | en |
dc.subject | aged | en |
dc.subject | case report | en |
dc.subject | dementia | en |
dc.subject | female | en |
dc.subject | genetics | en |
dc.subject | Greece | en |
dc.subject | Parkinson disease | en |
dc.subject | pathophysiology | en |
dc.subject | pedigree | en |
dc.subject | very elderly | en |
dc.subject | Aged | en |
dc.subject | Aged, 80 and over | en |
dc.subject | Dementia | en |
dc.subject | Female | en |
dc.subject | Greece | en |
dc.subject | Humans | en |
dc.subject | LDL-Receptor Related Proteins | en |
dc.subject | Male | en |
dc.subject | Membrane Transport Proteins | en |
dc.subject | Parkinson Disease | en |
dc.subject | Pedigree | en |
dc.subject | John Wiley and Sons Inc | en |
dc.title | SORL1 mutation in a Greek family with Parkinson's disease and dementia | en |
dc.type | journalArticle | en |
Files in questo item
Files | Dimensione | Formato | Mostra |
---|---|---|---|
Nessun files in questo item. |