Rendina, A;
Drongitis, D;
Donizetti, A;
Fucci, L;
Milan, G;
Tripodi, F;
Giustezza, F;
... Vitale, E; + view all
(2020)
CD33 and SIGLECL1 Immunoglobulin Superfamily Involved in Dementia.
Journal of Neuropathology & Experimental Neurology
, 79
(8)
pp. 891-901.
10.1093/jnen/nlaa055.
Preview |
Text
Ferrari_JNENEUnlaa055_AU(2).pdf - Accepted Version Download (1MB) | Preview |
Abstract
Sialic acid-binding immunoglobulin-type lectins, which are predominantly expressed in immune cells, represent a family of immunomodulatory receptors with inhibitory and activating signals, in both healthy and disease states. Genetic factors are important in all forms of dementia, especially in early onset dementia. CD33 was recently recognized as a genetic risk factor for Alzheimer disease (AD). Here, we present a 2-generation family with 4 members, the father and the 3 siblings, characterized by an early form of unusual dementia exhibiting a behavioral variant close to behavioral variant frontotemporal dementia phenotype and severe forms of memory loss suggestive of AD. We analyzed the CD33 gene in this family and identified 10 single nucleotide polymorphisms (SNPs) in a linkage disequilibrium block associated with the disease. We also identified a tag SNP, rs2455069-A>G, in CD33 exon 2 that could be involved with dementia risk. Additionally, we excluded the presence of C9orf72 expansion mutations and other mutations previously associated with sporadic FTD and AD. The tag SNP association was also analyzed in selected sporadic AD patients from the same Southern Italy region. We demonstrate that CD33 and SIGLECL1 have a significantly increased level of expression in these patients.
| Type: | Article |
|---|---|
| Title: | CD33 and SIGLECL1 Immunoglobulin Superfamily Involved in Dementia |
| Location: | England |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1093/jnen/nlaa055 |
| Publisher version: | https://doi.org/10.1093/jnen/nlaa055 |
| Language: | English |
| Additional information: | This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions. |
| Keywords: | FTLD, Frontotemporal dementia, Microglia, Neurodegeneration, Neuroinflammation, Sialic acid-binding immunoglobulin-type lectin (Siglec) |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Neurodegenerative Diseases |
| URI: | https://discovery-pp.ucl.ac.uk/id/eprint/10107996 |
Archive Staff Only
 |
View Item |
