Publications by authors named "Athina-Maria Aloizou"

55 Publications

Lack of association between TREM2 rs75932628 variant and amyotrophic lateral sclerosis.

Mol Biol Rep 2021 Apr 7. Epub 2021 Apr 7.

Department of Neurology, Laboratory of Neurogenetics, University Hospital of Larissa, Larissa, Greece.

Amyotrophic lateral sclerosis (ALS) is a multifactorial neurodegenerative disease. Inflammatory processes are among the mechanisms that are implicated in ALS pathogenesis. The TREM2 rs75932628 T variant may influence the regulatory effect of TREM2 on inflammation. Studies regarding the role of the rs75932628 variant in ALS have yielded inconsistent results, so far. To assess the role of TREM2 rs75932628 on ALS risk. We genotyped 155 patients with sporadic ALS and 155 healthy controls for TREM2 rs75932628. We also merged and meta-analyzed our data with data from previous studies (with a total of 7524 ALS cases and 14,675 controls), regarding TREM2 rs75932628 and ALS. No ALS or healthy subjects carried the TREM2 rs75932628-T variant. Results from meta-analyses (overall approach and sensitivity analyses) yielded no significant results for possible connection between TREM2 rs75932628-T variant and ALS. Based on our results, TREM2 rs75932628 does not seem to play a determining role to the pathophysiology of ALS.
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http://dx.doi.org/10.1007/s11033-021-06312-1DOI Listing
April 2021

Factors associated with recurrent transient global amnesia: systematic review and pathophysiological insights.

Rev Neurosci 2021 Mar 5. Epub 2021 Mar 5.

Department of Neurology, University Hospital of Larissa, School of Medicine, University of Thessaly, Mezourlo Hill, 41100Larissa, Greece.

The examination of the risk factors that affect the recurrence of transient global amnesia (TGA) may shed light on the pathophysiological substrate of the disease. A systematic review was performed to identify the factors associated with the recurrence of TGA. MEDLINE, EMBASE, CENTRAL and PsycINFO were meticulously searched. Observational controlled studies involving patients with single (s-TGA) and recurrent TGA (r-TGA) according to Hodges and Warlow's criteria were retrieved. Differences in the demographic characteristics, personal and family medical history, previous exposure to precipitating events and laboratory findings were examined. Retrieved evidence was assessed in the context of the individual article validity, based on the numerical power and methodological quality of each study. Nine cohort studies with retrospective, prospective or mixed design were retrieved. In total, 1989 patients with TGA were included, 269 of whom suffered from r-TGA (13.5%). R-TGA presented an earlier age of onset. Evidence was suggestive of a relationship between recurrence and a family or personal history of migraine, as well as a personal history of depression. There was weaker evidence that associated recurrence with a positive family history of dementia, a personal history of head injury and hippocampal lesions in diffusion-weighted MRI. On the other hand, no connection was found between recurrence and electroencephalographic abnormalities, impaired jugular venous drainage, cardiovascular risk factors, atrial fibrillation, previous cerebrovascular events, exposure to precipitating events, a positive family history of TGA and hypothyroidism. Important pathophysiological insights that arised from these findings were discussed.
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http://dx.doi.org/10.1515/revneuro-2021-0009DOI Listing
March 2021

Transcranial magnetic stimulation (TMS) and repetitive TMS in multiple sclerosis.

Rev Neurosci 2021 Feb 25. Epub 2021 Feb 25.

Department of Neurology,Laboratory of Neurogenetics, University of Thessaly, University Hospital of Larissa, Biopolis, Mezourlo Hill, 41100Larissa, Greece.

Multiple sclerosis (MS) is the most well-known autoimmune disorder of the central nervous system, and constitutes a major cause of disability, especially in young individuals. A wide array of pharmacological treatments is available, but they have often been proven to be ineffective in ameliorating disease symptomatology or slowing disease progress. As such, non-invasive and non-pharmacological techniques have been gaining more ground. Transcranial magnetic stimulation (TMS) utilizes the electric field generated by a magnetic coil to stimulate neurons and has been applied, usually paired with electroencephalography, to study the underlying pathophysiology of MS, and in repetitive trains, in the form of repetitive transcranial magnetic stimulation (rTMS), to induce long-lasting changes in neuronal circuits. In this review, we present the available literature on the application of TMS and rTMS in the context of MS, with an emphasis on its therapeutic potential on various clinical aspects, while also naming the ongoing trials, whose results are anticipated in the future.
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http://dx.doi.org/10.1515/revneuro-2020-0140DOI Listing
February 2021

CD33 rs3865444 as a risk factor for Parkinson's disease.

Neurosci Lett 2021 03 11;748:135709. Epub 2021 Feb 11.

Department of Neurology, Laboratory of Neurogenetics, University Hospital of Larissa, Greece, Faculty of Medicine, School of Health Sciences, University of Thessaly, Mezourlo Hill, 41100 Larissa, Greece. Electronic address:

Background: Alzheimer's (AD) and Parkinson's diseases (PD) share a few elements of their clinical, pathological and genetic backgrounds. The CD33 rs3865444 has emerged as a strong genetic locus associated with AD through genome-wide association study (GWAS). However, little is known for its role in PD.

Objective: To assess the role of CD33 rs3865444 on PD risk.

Methods: We genotyped 358 patients with PD and 358 healthy controls for theCD33 rs3865444. Odds ratios (ORs) with the respective 95% confidence intervals (CIs)], were calculated with the SNPStats software, assuming five genetic models (co-dominant, dominant, recessive, over-dominant and log-additive), with the G allele as the reference allele.

Results: The CD33 rs3865444 was associated with decreased PD risk in the dominant [GG vs GT + TT; OR (95% CI) = 0.61 (0.45-0.82), p = 0.001], the over-dominant [GG + TT vs GT; OR (95% CI) = 0.65 (0.48-0.89), p = 0.0061], log-additive [OR (95% CI) = 0.67 (0.52-0.86), p = 0.0014], and co-dominant [with overall p = 0.0043, and OR (95% CI) = 0.62 (0.45-0.84) for the TG genotype compared to the GG], modes of inheritance.

Conclusions: The CD33 rs3865444 is associated with decreased PD risk, and larger studies investigating the role of CD33 rs3865444 on PD are needed.
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http://dx.doi.org/10.1016/j.neulet.2021.135709DOI Listing
March 2021

Thinking outside the Ischemia Box: Advancements in the Use of Multiple Sclerosis Drugs in Ischemic Stroke.

J Clin Med 2021 Feb 7;10(4). Epub 2021 Feb 7.

Department of Neurology, University Hospital of Larissa, Faculty of Medicine, School of Health Sciences, University of Thessaly, 41110 Larissa, Greece.

Ischemic stroke (IS) is a major cause of death and disability, despite early intervention. Thrombo-inflammation, the inflammatory process triggered by ischemia, is a concept that ties IS with multiple sclerosis (MS), under the wider 'umbrella' of neuroinflammation, i.e., the inflammation of the nervous tissue. Drawing from this, numerous studies have explored the potential of MS disease-modifying drugs in the setting of IS. In this review, we present the available studies and discuss their potential in ameliorating IS outcomes. Based on our search, the vast majority of the studies have been conducted on animals, yielding mostly positive results. Two clinical trials involving natalizumab showed that it does not confer any benefits, but four human studies regarding fingolimod have showcased its potential in improving recovery prospects. However, concerns on safety and other issues are raised, and basic questions still need to be answered.
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http://dx.doi.org/10.3390/jcm10040630DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7914575PMC
February 2021

The long-term prognosis of Transient Global Amnesia: a systematic review.

Rev Neurosci 2021 Jan 29. Epub 2021 Jan 29.

Department of Neurology, University Hospital of Larissa, School of Medicine, University of Thessaly, Mezourlo Hill, 41100 Larissa, Greece.

Transient Global Amnesia (TGA) constitutes an enigmatic amnestic condition. In view of the admittedly limited knowledge regarding the nature of TGA, we decided to systematically review existing evidence for the generally regarded benign course of the disease. MEDLINE, EMBASE, CENTRAL and PsycINFO were searched for relevant articles. Observational (case-control, cross-sectional and cohort) controlled studies were retrieved. TGA diagnosis was made according to the diagnostic criteria of Caplan, validated by Hodges and Warlow. The TGA group was compared with either healthy controls (HC) or/and individuals with transient ischaemic attacks (TIA). The long-term risks of dementia, epilepsy, psychological-emotional disturbances, as well as long-term vascular and (vascular or nonvascular) mortality risks, were evaluated. Quality assessment was based on the Newcastle-Ottawa Scale. Literature search provided 12 eligible articles. Retrospective, prospective or mixed cohort designs were implemented in every study. Five articles registered a high quality, five registered a moderate quality, while two articles were assessed as part of the grey literature (conference abstract, abstract in English-article in Spanish). Overall, retrieved evidence was suggestive of similar vascular and mortality risks in TGA patients and HC, while TIA individuals exhibited elevated risks. Moreover, psychological disturbances were comparable between TGA and healthy individuals. On the other hand, studies for dementia and epilepsy obtained contradictory results, indicating both a similar and an increased risk in the TGA group compared to the HC group. Therefore, additional high-quality studies are warranted for the acquisition of more determining conclusions regarding the long-term risk of dementia and epilepsy in TGA.
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http://dx.doi.org/10.1515/revneuro-2020-0110DOI Listing
January 2021

Conventional cardiovascular risk factors in Transient Global Amnesia: Systematic review and proposition of a novel hypothesis.

Front Neuroendocrinol 2021 Feb 2;61:100909. Epub 2021 Feb 2.

Department of Neurology, University Hospital of Larissa, School of Medicine, University of Thessaly, Larissa, Greece.

Transient Global Amnesia (TGA) is an enigmatic amnestic syndrome. We conducted a systematic review to investigate the relationship between the conventional cardiovascular risk factors and TGA. MEDLINE, CENTRAL, EMBASE and PsycINFO were comprehensively searched and 23 controlled observational studies were retrieved. The prevalence of hypertension, diabetes mellitus, dyslipidemia and smoking was lower among patients with TGA compared to Transient Ischemic Attack. Regarding the comparison of TGA with healthy individuals, there was strong evidence suggesting a protective effect of diabetes mellitus on TGA and weaker evidence for a protective effect of smoking. Hypertension was associated with TGA only in more severe stages, while dyslipidemia was not related. In view of these findings, a novel pathophysiological hypothesis is proposed, in which the functional interactions of Angiotensin-II type-1 and N-methyl-D-aspartate receptors are of pivotal importance. The whole body of clinical evidence (nature of precipitating events, associations with migraine, gender-based association patterns) was integrated.
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http://dx.doi.org/10.1016/j.yfrne.2021.100909DOI Listing
February 2021

and Polymorphisms as Risk Factors for Parkinson's Disease.

J Clin Med 2021 Jan 20;10(3). Epub 2021 Jan 20.

Laboratory of Neurogenetics, Department of Neurology, University Hospital of Larissa, Faculty of Medicine, School of Health Sciences, University of Thessaly, 41110 Larissa, Greece.

Background: Parkinson's disease (PD) is the second commonest neurodegenerative disease. The genetic basis of PD is indisputable. Both and have been linked to PD, to some extent, but the exact role of those polymorphisms in PD remains controversial.

Objective: We assessed the role of and on PD risk.

Methods: We genotyped 358 patients with PD and 358 healthy controls for and . We also merged and meta-analyzed our data with data from previous studies, regarding these two polymorphisms and PD.

Results: No significant association with PD was revealed ( > 0.05), for either or , in any of the examined genetic model of inheritance. In addition, results from meta-analyses yield negative results.

Conclusions: Based on our analyses, it appears rather unlikely that or is among the major risk factors for PD, at least in Greek patients with PD.
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http://dx.doi.org/10.3390/jcm10030381DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7864159PMC
January 2021

Serum lipid abnormalities in migraine: A meta-analysis of observational studies.

Headache 2021 Jan 4;61(1):44-59. Epub 2021 Jan 4.

Department of Neurology, University Hospital of Larissa, School of Medicine, University of Thessaly, Larissa, Greece.

Background: The association of migraine with vascular comorbidities is long-established. The contribution of the "traditional" cardiovascular risk factors to this connection remains unclear.

Objective: To determine-quantify the differences in the serum lipid concentrations between lipid-lowering agents-naïve individuals with migraine and healthy controls (HC).

Methods: The study protocol was not preregistered with an online systematic review-protocol registry. A literature search involving MEDLINE, EMBASE, CENTRAL, Google Scholar, and the OpenGrey database was performed. Case-control, cross-sectional, or cohort studies involving HC and participants with migraine (with and without aura regardless of the use of prophylactic treatment) that quantitatively assessed serum low-density lipoprotein cholesterol (LDL-C) (primary index) and/or total cholesterol (TC) and/or high-density lipoprotein cholesterol (HDL-C) and/or triglycerides (TG) (secondary indices) were retrieved. Articles including participants with known dyslipidemia (or under lipid-lowering medications) or with secondary causes of dyslipidemia (aside from the subjectively assessed lifestyle parameters) were excluded. Studies with abstracts and full texts not published in English and articles reporting the implementation of other study designs (reviews, meta-analyses, commentaries, case reports, etc.) were excluded as well. Conference abstracts and English abstracts from studies with full texts not published in English were evaluated as part of the gray literature. Each step of the review process was performed by two investigators independently, and relevant data were abstracted based on standardized extraction forms. Any discrepancies were resolved by a third investigator.

Results: Seventeen studies (16 case-control and 1 cross-sectional) fulfilled the eligibility criteria. Retrieved articles involved adult participants, principally during the fourth decade of life. Results were compatible with higher LDL-C levels in migraine individuals (1370) than in HC (1215) [12 studies, mean difference (MD) = 10.4 mg/dl, 95% confidence interval (CI) = (1.6, 19.2)]. Similarly, higher TC levels were determined in migraine patients [14 studies, migraine = 1325, HC = 1213, MD = 10.6 mg/dl, 95% CI = (1.8, 19.3)], as were TG levels [15 studies, migraine = 1526, HC = 1262, MD = 11.8 mg/dl, 95% CI = (3.6, 20.0)]. HDL-C concentrations were not different between the two groups [14 studies, migraine = 1488, HC = 1328, MD = -0.4 mg/dl, 95% CI = (-2.2, 1.5)]. Prespecified sensitivity analysis following the exclusion of studies not presenting comparable body mass index values between the groups nullified the significant difference regarding LDL-C levels [MD = 5.3 mg/dl, 95% CI = (-0.1, 10.8)]. Subgroup analyses as well as the direct comparison of migraine with aura and migraine without aura individuals were compatible with no difference regarding lipid concentrations, but only a small fraction of the retrieved studies presented relevant figures.

Conclusions: Although our results are of limited generalizability, since most retrieved studies were performed in Turkey (nine studies), TC abnormalities may provide part of the explanation for the unfavorable cardiovascular profile of migraine patients. Lifestyle may be partly or entirely accountable for the determined increased serum TC. Additional studies that will completely address the effect that lifestyle parameters exert on lipid concentrations are required to better capture existing abnormalities.
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http://dx.doi.org/10.1111/head.14039DOI Listing
January 2021

Migraine in transient global amnesia: a meta-analysis of observational studies.

J Neurol 2021 Jan 2. Epub 2021 Jan 2.

Department of Neurology, School of Medicine, University Hospital of Larissa, University of Thessaly, Larissa, Greece.

Background: PURPOSE: Although many studies have investigated the relationship between transient global amnesia (TGA) and migraine, to date, no meta-analysis has confirmed the existence and size of their association.

Methodology: Literature search involved MEDLINE, EMBASE, CENTRAL and PsycINFO. Observational controlled studies including TGA patients (Caplan, Hodges and Warlow) were retrieved. Quality evaluation was based on the Newcastle-Ottawa scale. The prevalence of migraine was compared in TGA patients vs. healthy controls (HC), as well as in TGA against TIA individuals. Data from case-control, cross-sectional and cohort studies were pooled separately.

Results: Literature search yielded 1178 articles, 12 of which were included in the present meta-analysis. Results from case-control (ten), cohort (one) and cross-sectional (one) studies were compatible with an association between TGA and migraine. The nationwide inpatient cross-sectional study was of lesser value due to its inpatient orientation. The high-quality, population-based, retrospective cohort (158,301 participants per group) determined a higher relative-risk (RR) of TGA for migraine vs. non-migraine individuals [RR = 2.48, 95%confidence-interval (95% CI) = (1.32, 4.87)]. Sensitivity testing based on stricter diagnostic criteria strengthened the estimated association [RR = 3.84, 95% CI = (1.57, 9.38)]. Additionally, pooled data from eight case-control studies (700 TGA, 746 HC) yielded similar results [Odds-Ratio, OR = 2.51, 95% CI = (1.85, 3.41)], with the association mainly driven by the three high-quality studies, rather than the five articles of moderate quality. Finally, pooled findings from four case-control studies of moderate-quality revealed a higher prevalence of migraine among TGA compared to TIA patients [OR = 1.82, 95% CI = (1.22, 2.73)].

Conclusions: A significant association between TGA and migraine was established. The underlying connecting mechanism remains undetermined, yet.
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http://dx.doi.org/10.1007/s00415-020-10363-yDOI Listing
January 2021

The role of MiRNA-21 in gliomas: Hope for a novel therapeutic intervention?

Toxicol Rep 2020 6;7:1514-1530. Epub 2020 Nov 6.

Department of Neurology, Laboratory of Neurogenetics, University of Thessaly, University Hospital of Larissa, Larissa, Greece.

Gliomas are the most common primary brain tumors in adults. They are generally very resistant to treatment and are therefore associated with negative outcomes. MicroRNAs (miRNAs) are small, non-coding RNA molecules that affect many cellular processes by regulating gene expression and, post-transcriptionally, the translation of mRNAs. MiRNA-21 has been consistently shown to be upregulated in glioma and research has shown that it is involved in a wide variety of biological pathways, promoting tumor cell survival and invasiveness. Furthermore, it has been implicated in resistance to treatment, both against chemotherapy and radiotherapy. In this review, we gathered the existent data on miRNA-21 and gliomas, in terms of its expression levels, association with grade and prognosis, the pathways it involves and its targets in glioma, and finally how it leads to treatment resistance. Furthermore, we discuss how this knowledge could be applied in clinical practice in the years to come. To our knowledge, this is the first review to assess in extent and depth the role of miRNA-21 in gliomas.
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http://dx.doi.org/10.1016/j.toxrep.2020.11.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7677650PMC
November 2020

Multiple Sclerosis: Shall We Target CD33?

Genes (Basel) 2020 Nov 12;11(11). Epub 2020 Nov 12.

Laboratory of Neurogenetics, Department of Neurology, University Hospital of Larissa, Faculty of Medicine, School of Health Sciences, University of Thessaly, 41110 Larissa, Greece.

Background: Multiple sclerosis (MS) is a chronic disease of the central nervous system (CNS). Myeloid lineage cells (microglia and macrophages) may participate in the pathogenic mechanisms leading to MS. CD33 is a transmembrane receptor, mainly expressed by myeloid lineage cells. CD33 rs3865444 is a promoter variant previously associated with Alzheimer's disease, whose role in MS remains obscure.

Objective: To assess the role of CD33 rs3865444 in MS risk.

Methods: We genotyped 1396 patients with MS and 400 healthy controls for the presence of the CD33 rs3865444 variant. Odds ratios (ORs) with the respective 95% confidence intervals (CIs), were calculated with the SNPStats software, assuming five genetic models (co-dominant, dominant, recessive, over-dominant, and log-additive), with the G allele as the reference allele. The value of 0.05 was set as the threshold for statistical significance.

Results: CD33 rs3865444 was associated with MS risk in the dominant (GG vs. GT + TT; OR (95% C.I.) = 0.79 (0.63-0.99), = 0.041) and the over-dominant (GG + TT vs. GT; OR (95% C.I.) = 0.77 (0.61-0.97), = 0.03) modes of inheritance. Given that the GG genotype was more frequent and the GT genotype was less frequent in MS patients compared to controls-while the observed frequency of the TT genotype did not differ between the two groups-the observed difference in MS risk may be stemming from either the GG (as a risk factor) or the GT (as a protective factor) genotype of CD33 rs3865444.

Conclusions: Our preliminary results suggest a possible contribution of CD33 rs3865444 to MS. Therefore, larger multiethnic studies should be conducted, investigating the role of CD33 rs3865444 in MS.
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http://dx.doi.org/10.3390/genes11111334DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7696272PMC
November 2020

Unraveling the Possible Routes of SARS-COV-2 Invasion into the Central Nervous System.

Curr Treat Options Neurol 2020 25;22(11):37. Epub 2020 Sep 25.

Department of Neurology, Laboratory of Neurogenetics, University of Thessaly, University Hospital of Larissa, Larissa, Greece.

Purpose Of Review: To describe the possible neuroinvasion pathways of Severe Acute Respiratory Syndrome-related Coronavirus-2 (SARS-CoV-2), the virus responsible for the Coronavirus disease-19 (Covid-19) pandemic.

Recent Findings: We present data regarding the family of Coronaviruses (CoVs) and the central nervous system (CNS), and describe parallels between SARS-CoV-2 and other members of the family, which have been investigated in more depth and combine these findings with the recent advancements regarding SARS-CoV-2.

Summary: SARS-CoV-2 like other CoVs is neuroinvasive, neurotropic and neurovirulent. Two main pathways of CNS penetration seem to be the strongest candidates, the hematogenous and the neuronal. Τhe olfactory route in particular appears to play a significant role in neuroinvasion of coronaviruses and SARS-CoV-2, as well. However, existing data suggest that other routes, involving the nasal epithelium in general, lymphatic tissue and the CSF may also play roles in SARS-CoV-2 invasion into the CNS.
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http://dx.doi.org/10.1007/s11940-020-00647-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7515807PMC
September 2020

Genetic Risk Factors for Essential Tremor: A Review.

Tremor Other Hyperkinet Mov (N Y) 2020 06 11;10. Epub 2020 Jun 11.

Department of Neurology, Laboratory of Neurogenetics, University Hospital of Larissa, Greece, Faculty of Medicine, School of Health Sciences, University of Thessaly, Larissa, GR.

Highlights: In the current review, we thoroughly reviewed 74 identified articles regarding genes and genetic loci that confer susceptibility to ET. Over 50 genes/genetic loci have been examined for possible association with ET, but consistent results failed to be reported raising the need for collaborative multiethnic studies.

Background: Essential tremor (ET) is a common movement disorder, which is mainly characterized by bilateral tremor (postural and/or kinetic) in the upper limbs, with other parts of the body possibly involved. While the pathophysiology of ET is still unclear, there is accumulating evidence indicating that genetic variability may be heavily involved in ET pathogenesis. This review focuses on the role of genetic risk factors in ET susceptibility.

Methods: The PubMed database was searched for articles written in English, for studies with humans with ET, controls without ET, and genetic variants. The terms "essential tremor" and "polymorphism" (as free words) were used during search. We also performed meta-analyses for the most examined genetic variants.

Results: Seventy four articles concerning and and genes, and ETM genetic loci were included in the current review. Results from meta-analyses revealed a marginal association for the STK32B rs10937625 and a marginal trend for association (in sensitivity analysis) for the LINGO1 rs9652490, with ET.

Discussion: Quite a few variants have been examined for their possible association with ET. LINGO1 rs9652490 and STK32B rs10937625 appear to influence, to some extent, ET susceptibility. However, the conflicting results and the lack of replication for many candidate genes raise the need for collaborative multiethnic studies.
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http://dx.doi.org/10.5334/tohm.67DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7394223PMC
June 2020

Recurrent episodes of syncope requiring pacemaker implantation as an initial presentation of neuromyelitis optica spectrum disorder.

Mult Scler Relat Disord 2020 Oct 25;45:102423. Epub 2020 Jul 25.

Department of Neurology, Laboratory of Neurogenetics, University of Thessaly, University Hospital of Larissa, Larissa, Greece. Electronic address:

Neuromyelitis Optica Spectrum Disorders (NMOSD) can manifest with a variety of heterogeneous symptoms, mainly encompassing optic neuritis, acute myelitis and area postrema syndrome (hiccups, nausea, and vomiting). Syncopal episodes have rarely been described as an initial manifestation of NMOSD. Here, we report a case of a 42-year-old male who was diagnosed with NMOSD after initially presenting with intractable hiccups and recurrent episodes of syncope. This report is of particular interest, as it suggests that NMOSD should be included in the differential diagnosis of patients with intractable hiccups and heart rhythm disorders.
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http://dx.doi.org/10.1016/j.msard.2020.102423DOI Listing
October 2020

Parkinson's disease and pesticides: Are microRNAs the missing link?

Sci Total Environ 2020 Nov 29;744:140591. Epub 2020 Jun 29.

Department of Neurology, Laboratory of Neurogenetics, University Hospital of Larissa, Greece, Faculty of Medicine, School of Health Sciences, University of Thessaly, Larissa, Greece.

Parkinson's disease (PD) is a common neurodegenerative disorder that leads to significant morbidity and decline in the quality of life. It develops due to loss of dopaminergic neurons in the substantia nigra pars compacta, and among its pathogenic factors oxidative stress plays a critical role in disease progression. Pesticides are a broad class of chemicals widely used in agriculture and households for the protection of crops from insects and fungi. Several of them have been incriminated as risk factors for PD, but the underlying mechanisms have yet to be fully understood. MicroRNAs (miRNAs) are small, non-coding RNA molecules that play an important role in regulating mRNA translation and protein synthesis. miRNA levels have been shown to be affected in several diseases as well. Since the studies on the association between pesticides and PD have yet to reach definitive conclusions, here we review recent evidence on deregulated microRNAs upon pesticide exposure, and attempt to find an overlap between miRNAs deregulated in PD and pesticides, as a missing link between the two, and enhance future research in this direction.
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http://dx.doi.org/10.1016/j.scitotenv.2020.140591DOI Listing
November 2020

Meta-analysis of melatonin levels in cluster headache-Review of clinical implications.

Acta Neurol Scand 2020 Oct 7;142(4):356-367. Epub 2020 Aug 7.

Department of Neurology, University Hospital of Larissa, School of Medicine, University of Thessaly, Larissa, Greece.

Cluster headache (CH) has been associated with circadian disturbances. The present systematic review examined available evidence for the utilization of melatonin (MT) in CH prophylaxis. First, case-control studies assessing nocturnal MT or its urine-expelled metabolite 6-sulfatoxymelatonin (aMT6s) in CH individuals and healthy controls (HC) were reviewed and meta-analyzed. Secondly, the results from randomized controlled trials (RCTs) and non-randomized studies evaluating MT's use in the prevention of CH were discussed. Literature search included MEDLINE, EMBASE, CENTRAL, PsycINFO, trial registries, Google Scholar, and OpenGrey. Bouts and remissions were assessed separately. Ten case-control studies (adult participants) were retrieved. Seven evaluated serum MT; meta-analysis involved only three of them (due to deficient reporting, n: bout = 31, remission = 38, HC = 31). Results were compatible with lower nocturnal serum MT levels during bouts [bout-HC; FE-MD = -29.89 pg/mL, 95% CI = (-46.00, -13.78), remission-HC; FE-MD = -2.40 pg/mL, 95% CI = (-16.57, 21.38), bout-remission; RE-MD = -32.10 pg/mL, 95% CI = (-56.78, -7.42)]. Nocturnal urinary melatonin was appraised in two studies, but reporting issues impeded the capitalization of the results. Nocturnal urine aMT6s was evaluated by two studies (n: bout = 29, remission = 22, HC = 20), and pooled results were indicative of lower aMT6s concentration in CH individuals during both active and inactive periods [bout-HC; FE-MD = -9.63 μg/nocturnal urine collection, 95% CI = (-14.40, -4.85), remission-HC; FE-MD = -9.12 μg/nocturnal urine collection, 95% CI = (-14.63,-3.62), bout-remission; FE-MD = -0.58 μg/nocturnal urine collection, 95% CI = (-4.58, 3.42)]. Regarding CH prophylaxis, one RCT and two non-randomized trials were retrieved, involving a total of 41 adult CH individuals (11-episodic, 31-chronic) and rendering the deduction of any conclusions precarious. Overall, available data for the role use of MT in CH are insufficient and inconclusive. Complementary studies evaluating endogenous MT concentrations and MT administration to patients with CH are warranted.
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http://dx.doi.org/10.1111/ane.13317DOI Listing
October 2020

SLC2A3 rs12842 polymorphism and risk for Alzheimer's disease.

Neurol Res 2020 Oct 4;42(10):853-861. Epub 2020 Jul 4.

Department of Neurology, Laboratory of Neurogenetics, University of Thessaly, University Hospital of Larissa , Larissa, Greece.

Background: Many studies support the hypothesis that brain glucose dysregulation contributes to neurodegeneration and disease progression. The SLC2A3 gene encodes the Neuronal Glucose Transporter 3 (GLUT3), a critical molecule for glucose transport into the neuron. The GLUT3 rs12842 polymorphism has been associated with an increased risk for attention-deficit/hyperactivity disorder (ADHD). Epidemiological and genetic studies have reported a link between antecedent ADHD and Alzheimer's disease (AD), as both share a dysregulation of brain glucose.

Aim: This study aimed to explore the possible correlation of the SLC2A3 rs12842 polymorphism with susceptibility towards AD.

Methods: We genotyped 327 patients with AD and 327 controls for the GLUT3 rs12842. : Rs12842 was associated with a decreased risk of developing AD in the co-dominant [Odds Ratio (OR) (95% confidence interval (CI) = 0.67 (0.45-0.99)), p = 0.039], dominant [OR (95% CI) = 0.64 (0.44-0.93), p = 0.019] and log-additive modes [OR (95% CI) = 0.65 (0.46-0.91), p = 0.012].

Conclusions: Our results suggest a significant, inverse association between SLC2A3 rs12842 and the risk of AD.
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http://dx.doi.org/10.1080/01616412.2020.1786973DOI Listing
October 2020

Serum Homocysteine, Pyridoxine, Folate, and Vitamin B12 Levels in Migraine: Systematic Review and Meta-Analysis.

Headache 2020 Sep 2;60(8):1508-1534. Epub 2020 Jul 2.

Department of Neurology, University Hospital of Larissa, School of Medicine, University of Thessaly, Larissa, Greece.

Background: Migraine, especially migraine with aura (MA), has been linked to increased risk for ischemic cerebrovascular disease. The possible role of elevated serum homocysteine (Hcy, a cause of thrombophilia) in migraine has been demonstrated by several studies.

Objective: The present study aims to review and meta-analyze data from studies investigating the difference of serum Hcy and Hcy lowering vitamins between migraine patients and healthy controls (HC), as well as between patients with MA and migraine without aura (MO).

Methods: Literature search involved MEDLINE, Embase, CENTRAL, Google Scholar, and trial registries. The Newcastle-Ottawa Scale was used to evaluate the quality of the retrieved studies. Standardized mean differences (SMDs) and 95% confidence intervals (95%CIs) were calculated. Funnel-plots were utilized for the evaluation of publication bias.

Results: Overall, 29 (28 case-control and 1 cross-sectional) studies were retrieved. Meta-analysis was indicative of higher Hcy concentration in migraine patients vs HC overall [adults and children: 16 studies, I  = 81%, SMD = 0.41, 95%CI = (0.20, 0.61)]. Hcy was consistently elevated in adults with migraine [adults: 12 studies, I  = 76%, SMD = 0.35, 95%CI = (0.15, 0.54); children: 1 study, SMD = 0.37, 95%CI = (-0.05, 0.79)]. Subgroup analyses reproduced the results for both adults with MA [7 studies, I  = 83%, SMD = 0.37, 95%CI = (0.03, 0.71)] and MO [5 studies, I  = 84%, SMD = 0.46, 95%CI = (0.03, 0.89)]. Figures for serum folate were lower in the overall comparison of migraine patients with HC [adults and children: 11 studies, I  = 87%, SMD = -0.36, 95%CI = (-0.68, -0.05); adults: 8 studies, I  = 6%, SMD = -0.11, 95%CI = (-0.22, 0.01); children: 1 study, SMD = -0.71, 95%CI = (-1.14, -0.29); MA adults: 4 studies, I  = 44%, SMD = -0.16, 95%CI = (-0.35, 0.04); MO adults: 4 studies, I  = 47%, SMD = -0.17, 95%CI = (-0.44, 0.10)]. Serum vitamin B12 levels were not different between migraine patients and HC [adults and children: 11 studies, I  = 88%, SMD = -0.24, 95%CI = (-0.57, 0.09); adults: 8 studies, I  = 57%, SMD = -0.10, 95%CI = (-0.28, 0.08); children: 1 study, SMD = 0.29, 95%CI = (-0.13, 0.71); MA adults: 4 studies, I  = 63%, SMD = -0.14, 95%CI = (-0.48, 0.20); MO adults: 4 studies, I  = 59%, SMD = -0.15, 95%CI = (-0.45, 0.15)]. Serum Hcy was lower in MO than MA [adults and children: 10 studies, I  = 39%, SMD = 0.30, 95%CI = (0.14, 0.46), adults: 6 studies, I  = 29%, SMD = 0.21, 95%CI = (0.09, 0.36), children: 1 study, SMD = 0.51, 95%CI = (0.22, 0.80)]. Serum folate and vitamin B12 did not differ between MA and MO.

Conclusions: Our results suggest that there is a possible link between migraine, mainly MA, and elevated serum Hcy.
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http://dx.doi.org/10.1111/head.13892DOI Listing
September 2020

CYP1A2 rs762551 polymorphism and risk for amyotrophic lateral sclerosis.

Neurol Sci 2021 Jan 26;42(1):175-182. Epub 2020 Jun 26.

Department of Neurology, Laboratory of Neurogenetics, University of Thessaly, Faculty of Medicine, University Hospital of Larissa, Larissa, Greece.

Background: Genetic variability is considered to confer susceptibility to amyotrophic lateral sclerosis (ALS). Oxidative stress is a significant contributor to ALS-related neurodegeneration, and it is regulated by cytochromes P450 (CYPs), such as CYP1A2; these are responsible for the oxidative metabolism of both exogenous and endogenous substrates in the brain, subsequently impacting ALS. The function of CYP1A2 is largely affected by genetic variability; however, the impact of CYP1A2 polymorphisms in ALS remains underinvestigated.

Objective: This study aims to examine the possible association of ALS with the CYP1A2 rs762551 polymorphism, which codes for the high inducibility form of the enzyme.

Methods: One hundred and fifty-five patients with sporadic ALS and 155 healthy controls were genotyped for the CYP1A2 rs762551. Statistical testing for the association of CYP1A2 rs762551 with risk for ALS was performed using SNPstats.

Results: The CYP1A2 rs762551 C allele was associated with a decreased risk of ALS development. In the subgroup analysis according to the ALS site of onset, an association between CYP1A2 rs762551 and limb and bulbar onset of ALS was shown. Cox proportional-hazard regression analyses revealed a significant effect of the CYP1A2 rs762551 on the age of onset of ALS.

Conclusions: Based on our results, a primarily potential link between the CYP1A2 rs762551 polymorphism and ALS risk could exist.
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http://dx.doi.org/10.1007/s10072-020-04535-xDOI Listing
January 2021

Assessment of the reporting quality of double-blind RCTs for ischemic stroke based on the CONSORT statement.

J Neurol Sci 2020 08 27;415:116938. Epub 2020 May 27.

Department of Neurology, University Hospital of Larissa, School of Medicine, University of Thessaly, Larissa, Greece.

Background-purpose: It is critical that Randomized Controlled Trials(RCTs) present complete and transparent reporting. The present study aims to determine the reporting quality of double-blind RCTs for medicinal interventions in patients with ischemic stroke, based on the 2010 CONSORT-statement.

Methodology: MEDLINE was comprehensively searched. The CONSORT period was demarcated between 2000 and 2019, while compliance ≥75 was defined as good-adequate. Possible determinants were univariately and multivariately examined for associations.

Results: Overall, 197 articles were considered eligible, 143 published after and 54 before 2000. CONSORT compliance was 68.11% ± 11.56% (standard deviation) and 55.65% ± 11.57% respectively. Among retrieved articles 56/143(39.16%) and 1/54(1.85%) were rated as of good reporting quality correspondingly [p < .001, OR = 34.115, 95%CI = (4.586, 253.762)]. McNemar's test was indicative of consistency regarding the adequately/inadequately reported items before and after the 2010 CONSORT-revision (p = 1.00). Univariate analysis revealed two significant associations with the reporting quality: high impact factor(IF) [high vs. moderate; p = .007, OR = 3.521, 95%CI = (1.396, 8.879), high vs. low; p < .001, OR = 7.583, 95%CI = (3.063, 18.762), moderate vs. low; p = .078, OR = 2.154, 95%CI = (0.911, 5.093)] and sample size [p < .001, OR = 4.297, 95%CI = (2.081, 8.874)]. Publication period (p = .742) and funding (p = .280) were not significantly associated. Multivariate analysis attenuated the impact of sample size providing insignificant results, whereas the effect of high IF remained significant [moderate vs. high; p = .029, OR = 0.337, 95%CI = (0.127, 0.895), low vs. high; p = .012, OR = 0.199, 95%CI = (0.057, 0.699)]. An exploratory analysis demonstrated significant, weak to moderate, positive linear correlation between reporting quality and IF [Pearson's r = 0.418, p < .001].

Conclusions: Adherence to the CONSORT-statement needs to be further endorsed and incorporated in every journal's instructions-to-authors.
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http://dx.doi.org/10.1016/j.jns.2020.116938DOI Listing
August 2020

Cognitive Deficits in Myopathies.

Int J Mol Sci 2020 May 27;21(11). Epub 2020 May 27.

Department of Neurology, Laboratory of Neurogenetics, Faculty of Medicine, University of Thessaly, University Hospital of Larissa, 41110 Larissa, Greece.

Myopathies represent a wide spectrum of heterogeneous diseases mainly characterized by the abnormal structure or functioning of skeletal muscle. The current paper provides a comprehensive overview of cognitive deficits observed in various myopathies by consulting the main libraries (Pubmed, Scopus and Google Scholar). This review focuses on the causal classification of myopathies and concomitant cognitive deficits. In most studies, cognitive deficits have been found after clinical observations while lesions were also present in brain imaging. Most studies refer to hereditary myopathies, mainly Duchenne muscular dystrophy (DMD), and myotonic dystrophies (MDs); therefore, most of the overview will focus on these subtypes of myopathies. Most recent bibliographical sources have been preferred.
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http://dx.doi.org/10.3390/ijms21113795DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7312055PMC
May 2020

Clinically reliable cognitive decline in relapsing remitting multiple sclerosis: Is it the tip of the iceberg?

Neurol Res 2020 Jul 19;42(7):575-586. Epub 2020 May 19.

Department of Neurology, Laboratory of Neurogenetics, Faculty of Medicine, University of Thessaly, University Hospital of Larissa , Larissa, Greece.

Objectives: Cognitive impairment is common in multiple sclerosis, but the brain MRI correlates in relapsing remitting multiple sclerosis remain controversial. The current study aimed to investigate whether cognitive decline can be predicted by global and/or regional brain atrophy.

Methods: Sixty-three patients with relapsing remitting multiple sclerosis (36 men, mean age 39.9 ± 9.4 years old, mean EDSS 1.4 ± 1.2, mean disease duration 4.9 ± 4.3 years) and 46 healthy controls (21 men, mean age 37.5 ± 10.8 years old) were included. Demographic data were obtained, and a longitudinal neuropsychological and global and regional MRI brain volume assessment was performed.

Results: The patients performed worse than controls in most neuropsychological tests at baseline. The percentage of patients with clinically meaningful cognitive decline ranged from only 0% to 7.9%. Statistically significant volume reduction was found for all MRI measures except for the left accumbens nucleus. Whole or regional brain atrophy ranged from -0.02% to -0.25%, with subcortical structures showing the largest atrophy rates. A total of 22.2% to 93.7% patients showed atrophy across the brain structures assessed volumetrically.

Discussion: It was regional rather than whole-brain changes that significantly predicted cognitive decline for the patients in the tasks that tested processing speed, visuo-spatial and inhibition skills. The overall data suggest that the progression of cognitive impairment in relapsing remitting multiple sclerosis as captured by conventional neuropsychological testing is the tip of the iceberg of neurodegenerative sequelae in the disease. Also, regional volumetric changes are better than whole-brain atrophy at predicting cognitive dysfunction.
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http://dx.doi.org/10.1080/01616412.2020.1761175DOI Listing
July 2020

Organochlorine pesticide levels in Greek patients with Parkinson's disease.

Toxicol Rep 2020 8;7:596-601. Epub 2020 Apr 8.

Department of Neurology, Laboratory of Neurogenetics, University of Thessaly, University Hospital of Larissa, Larissa, Greece.

Background: Parkinson's disease (PD) is a neurodegenerative disease, mostly presenting with characteristic motor symptoms. Organochlorines (OC) are a class of widely-used pesticides that have been included among the list of environmental factors incriminated in PD pathogenesis. However, most studies reporting this association are based on questionnaires, and few have reported exposure data.

Aim: To examine the relationship between OC blood concentrations and PD risk.

Methods: In the present study, we studied the concentrations of 8 OC compounds (hexachlorobenzene, heptachlor, hepachlor epoxide, c-chlordane, a-chlordane, p,p'-DDE, DDD, DDT) in 104 Greek PD patients and 110 healthy controls.

Results: All substances studied were present in at least one sample. The most frequently detected (above the level of quantification) pesticides were p,p'-DDE (n = 214, 100 % of both groups) and hexachlorobenzene, HCB (n = 189, cases 46.5 %, controls 53.5 %). Higher levels of DDE were detected among PD patients in comparison to controls by using logistic regression analysis to control for confounders [Odds Ratio, OR (95 % confidence interval, C.I.)]: 2.592,(1.29-5.21)], whilst lower levels of HCB were detect among PD patients [OR,95 %CI:0.176(0.09-0.35)].

Conclusions: Our data suggest that exposure to specific OCs is related to the risk of PD. Further studies, using real exposure data, are needed in order to confirm and extend these findings.
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http://dx.doi.org/10.1016/j.toxrep.2020.03.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7225589PMC
April 2020

CYP1A2 rs762551 and ADORA2A rs5760423 Polymorphisms in Patients with Blepharospasm.

J Mol Neurosci 2020 Sep 18;70(9):1370-1375. Epub 2020 May 18.

Department of Neurology, Laboratory of Neurogenetics, University Hospital of Larissa, University of Thessaly, Biopolis, Mezourlo Hill, 41100, Larissa, Greece.

Blepharospasm (BSP) is a neurological movement disorder. Coffee consumption has been found to have a protective effect against BSP. BSP and apraxia of eyelid opening are particularly common among patients with PD. The CYP1A2 rs762551 and ADORA2A rs5760423 variants have been previously marginally associated with the risk of PD and are also implicated in caffeine metabolism pathways. The aim of the present study was to evaluate the effect of the CYP1A2 rs762551 and ADORA2A rs5760423 variants on BSP. A Southeastern European Caucasian (SEC) cohort of 206 BSP patients and 206 healthy controls was genotyped for rs762551 and rs5760423. CYP1A2 rs762551 was associated with a decreased BSP risk in the dominant (OR (95% CI) 0.62 (0.41-0.92), p = 0.017), log-additive (OR (95% CI) 0.68 (0.51-0.92), p = 0.011), and co-dominant modes (for the CC genotype OR (95% CI) 0.49 (0.25-0.93), p = 0.038). We provide preliminary evidence that CYP1A2 rs762551 is associated with BSP. Further studies and replication of our results are needed.
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http://dx.doi.org/10.1007/s12031-020-01553-4DOI Listing
September 2020

Pyridoxine, folate and cobalamin for migraine: A systematic review.

Acta Neurol Scand 2020 Aug 30;142(2):108-120. Epub 2020 Apr 30.

Department of Neurology, University Hospital of Larissa, School of Medicine, University of Thessaly, Larissa, Greece.

There is a possible relationship between migraine and hypercoagulability inducing factors, such as hyperhomocysteinemia. In this context, homocysteine (Hcy)-lowering vitamins (B6-folate-B12) may prove beneficial in the management-prophylaxis of migraine. We performed a systematic literature search in order to retrieve studies assessing the supplementation of B6, folate and B12 (alone or as adjunctive therapies) to migraine patients, as well as patients suffering from other primary headache disorders. MEDLINE, EMBASE, CENTRAL, Google Scholar, trial registries and OpenGrey were searched. Twelve relevant articles were retrieved. The management of acute migraine attacks with Hcy-lowering vitamins has not provided promising results (one randomized controlled trial-RCT-and one prospective uncontrolled trial). On the contrary, significant benefits were registered for the use of B6 alone, in combination with folate and in combination with folate and B12 in the prophylaxis of migraine with aura (MA) in adults compared to placebo (five RCTs, only one did not obtain significant results). Folate supplementation alone was not more efficacious than placebo (one RCT). Limited data for the prophylaxis of migraine without aura (MO) in children (two prospective uncontrolled trials) and adults (two prospective uncontrolled trials involving both MA and MO participants) impede the extraction of safe conclusions. An overall attractive safety profile was exhibited with gastrointestinal adverse events being the most common. Overall, a potential beneficial effect regarding the administration of B6, folate and/or B12 in the prophylaxis of MA in adults was indicated. Additional high-quality RCTs that will investigate MO in adults as well as MO and MA in children are warranted.
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http://dx.doi.org/10.1111/ane.13251DOI Listing
August 2020

Brain atrophy in multiple sclerosis: mechanisms, clinical relevance and treatment options.

Auto Immun Highlights 2019 Dec 10;10(1). Epub 2019 Aug 10.

1Department of Neurology, Laboratory of Neurogenetics, Faculty of Medicine, University of Thessaly, University Hospital of Larissa, Biopolis, Mezourlo Hill, 41100 Larissa, Greece.

Multiple sclerosis (MS) is an immune-mediated disease of the central nervous system characterized by focal or diffuse inflammation, demyelination, axonal loss and neurodegeneration. Brain atrophy can be seen in the earliest stages of MS, progresses faster compared to healthy adults, and is a reliable predictor of future physical and cognitive disability. In addition, it is widely accepted to be a valid, sensitive and reproducible measure of neurodegeneration in MS. Reducing the rate of brain atrophy has only recently been incorporated as a critical endpoint into the clinical trials of new or emerging disease modifying drugs (DMDs) in MS. With the advent of easily accessible neuroimaging softwares along with the accumulating evidence, clinicians may be able to use brain atrophy measures in their everyday clinical practice to monitor disease course and response to DMDs. In this review, we will describe the different mechanisms contributing to brain atrophy, their clinical relevance on disease presentation and course and the effect of current or emergent DMDs on brain atrophy and neuroprotection.
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http://dx.doi.org/10.1186/s13317-019-0117-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7065319PMC
December 2019

Assessment of TREM2 rs75932628 variant's association with Parkinson's disease in a Greek population and Meta-analysis of current data.

Int J Neurosci 2020 Apr 19:1-5. Epub 2020 Apr 19.

Department of Neurology, Laboratory of Neurogenetics, University of Thessaly, University Hospital of Larissa, Larissa, Greece.

Background: Α number of genetic variants are considered to confer susceptibility to Parkinson's disease (PD). Rs75392628 (R47H), a rare variant of TREM2 gene, has been linked to PD, although its role on PD remains conflicting.

Objective: Detection of a possible contribution of rs75392628 variant of TREM2 gene to PD risk.

Methods: A total of 358 PD patients and 358 healthy controls genotyped for rs75392628. In addition, a meta-analysis was performed by merging our results with those from previous studies.

Results: The rare variant of rs75932628 (47H) of TREM2 gene was not detected on cohort. Meta-analysis of a total of 9271 PD cases and 9777 controls across 14 independent PD data sets from 9 studies, including the present study, did not show any statistically significant effect of rs75392628 on PD risk (OR:1.54 95% CI:0.87-2.73. OR: 1.54, 95%CI: 0.71-3.32).

Conclusions: Rs75392628 TREM2 variant is rather unlikely to be a major genetic risk contributor of PD.
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http://dx.doi.org/10.1080/00207454.2020.1750388DOI Listing
April 2020

TNFRSF13C/BAFFR P21R and H159Y polymorphisms in multiple sclerosis.

Mult Scler Relat Disord 2020 Jan 30;37:101422. Epub 2019 Sep 30.

Department of Immunology & Histocompatibility, Faculty of Medicine, School of Health Sciences, University of Thessaly, Larissa, Greece. Electronic address:

Recent studies implicate B cells in multiple sclerosis (MS) pathogenesis, and consequently, several molecules participating in B cell survival and proliferation, including B-cell activating factor (BAFF), have recently been analyzed in MS patients. BAFF mediates its function through binding to three receptors; among them, its interaction with the BAFF receptor (BAFFR) is crucial in mediating its survival function. Interestingly, two common polymorphisms of the TNFRSF13C gene, encoding BAFFR, P21R (rs77874543) and H159Y (rs61756766), have been reported to affect BAFFR assembly and signaling. In order to evaluate the possible contribution of BAFFR in MS pathogenesis and/or phenotype, we analyzed both TNFRSF13C/BAFFR polymorphisms in 486 MS patients in relation to their disease severity, their disability status and the age of disease onset and duration. As control group, we used allele frequencies extracted from the Exome Aggregation Consortium (ExAC) Browser. Interestingly, we found a higher prevalence of the H159Y polymorphism in MS patients, suggesting that enhanced BAFFR-signaling might contribute to the disease pathogenesis.
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http://dx.doi.org/10.1016/j.msard.2019.101422DOI Listing
January 2020