Investigating the potential clinical impact of periodontitis on the progression of Alzheimer's disease: a prospective cohort study.

OBJECTIVES: This study aimed to investigate the effect of periodontitis and current occlusal relationship on the progression rate of Alzheimer's disease (AD). METHODS: Ninety Alzheimer's patients, who were divided into three groups as Stage I (n=42), Stage II (n=29), and Stage III (n=19), based on the Clinical Dementia Rating Scale, were included in the study. Cognitive status of the patients was evaluated with Standardized Mini-Mental Test (SMMT) at baseline and repeated 6 months later. Clinical periodontal examinations were recorded and occlusal relationship status was classified according to the Eichner Index. RESULTS: Of 90 Alzheimer's patients, 65 were toothed individuals with periodontitis and 25 were edentulous individuals without active periodontal disease. Stage II and Stage III toothed Alzheimer's patients had higher percentage of bleeding on probing (BOP%) and clinical attachment level (CAL) values than Stage I patients (p<0.05). Stage III Alzheimer's patients had significantly higher probing pocket depth (PPD) values than Stage I individuals (p<0.05). ΔSMMT values showed positive correlation with BOP% (r=0.308, p=0.013) and PPD (r=0.275, p=0.027). Among the evaluated parameters, being in the AD Stage II-Stage III, having periodontitis and age variable had significant effects on ΔSMMT levels (p<0.05). CONCLUSIONS: Within the limits of our study, it can be concluded that periodontitis may increase the severity and also accelerate the progression rate of AD. CLINICAL RELEVANCE: These results are precious to show the necessity of proper oral hygiene activities and regular dental visits in patients with toothed AD. CLINICAL TRIAL REGISTRATION: This study was registered and approved by clinical trials (NCT05807100).

TREM2 variants as a possible cause of frontotemporal dementia with distinct neuroimaging features.

BACKGROUND AND PURPOSE: Nasu-Hakola disease (NHD) is a rare, autosomal recessive disorder characterized by skeletal and neurological symptoms. Behavioral symptoms with cognitive impairment may mimic the behavioral variant of frontotemporal dementia (bvFTD) and other early-onset dementias. Our patients were analyzed and the literature was reviewed to delineate neurological and neuroimaging findings suggestive of NHD. METHOD: Fourteen patients carrying a pathogenic mutation in the TREM2 gene were found in our database. Demographic, clinical, laboratory and radiological data were retrieved and analyzed. RESULTS: The presenting clinical picture was behavioral changes with cognitive decline resembling bvFTD in all patients. The mean age was 37.1 ± 4.97 years and the mean duration of the disease was 8.9 ± 3.51 years. Only two patients had typical bone cysts. Seven patients had bilateral calcification of the basal ganglia in computed tomography of the brain. Magnetic resonance imaging of the brain revealed severe atrophy of the corpus callosum, enlargement of the ventricles, atrophy of the caudate nuclei and periventricular white matter changes in all patients. Symmetrical global atrophy of the brain mainly affecting frontoparietal and lateral temporal regions were observed in all cases, and 13 patients had atrophy of the hippocampus. Cerebrospinal fluid examination of 10 patients showed elevated protein levels in six and the presence of oligoclonal bands in four patients. CONCLUSION: A combination of white matter changes, enlarged ventricles, atrophy of the caudate nuclei and thinning of the corpus callosum in magnetic resonance imaging strongly suggests NHD in patients with FTD syndrome. Molecular genetic analysis should be performed in suspected cases, and families should receive genetic counseling.

Altered gut microbiota in patients with idiopathic Parkinson's disease: an age-sex matched case-control study.

OBJECTIVE: The investigations related to how gut microbiota changes the brain-gut axis in idiopathic Parkinson's disease (PD) attract growing interest. We aimed to determine whether gut microbiota is altered in PD patients and whether non-motor symptoms of PD and disease duration had any relation with alterations of microbiota profiles among patients. METHODS: Microbial taxa in stool samples obtained from 84 subjects (42-PD patients and 42-healthy spouses) were analyzed using 16S rRNA amplicon-sequencing. RESULTS: We observed a significant decrease of Firmicutes and a significant increase of Verrucomicrobiota at the phylum level. At the family level, Lactobacillaceae and Akkermansiaceae were significantly increased and Coriobacteriales Incertae Sedis were significantly decreased in the PD patients compared to their healthy spouses. Genus level comparison inferred significant increase in abundance only in Lactobacillus while the abundance of Lachnospiraceae ND3007 group, Tyzzerella, Fusicatenibacter, Eubacterium hallii group and Ruminococcus gauvreauii group were all decreased. We determined that the abundance of Prevotella genus decreased, but not significantly in PD patients. In addition, we found differences in microbiota composition between patients with and without non-motor symptoms. CONCLUSION: We observed differences in gut microbiota composition between PD patients and their healthy spouses. Our findings suggest that disease duration influenced microbiota composition, which in turn influenced development of non-motor symptoms in PD. This study is the first in terms of both gut microbiota research in Turkish PD patients and the probable effect of microbiota on non-motor symptoms of PD.

Myophosphorylase (PYGM) mutations determined by next generation sequencing in a cohort from Turkey with McArdle disease.

This study aimed to identify PYGM mutations in patients with McArdle disease from Turkey by next generation sequencing (NGS). Genomic DNA was extracted from the blood of the McArdle patients (n = 67) and unrelated healthy volunteers (n = 53). The PYGM gene was sequenced with NGS and the observed mutations were validated by direct Sanger sequencing. A diagnostic algorithm was developed for patients with suspected McArdle disease. A total of 16 deleterious PYGM mutations were identified, of which 5 were novel, including 1 splice-site donor, 1 frame-shift, and 3 non-synonymous variants. The p.Met1Val (27-patients/11-families) was the most common PYGM mutation, followed by p.Arg576* (6/4), c.1827+7A>G (5/4), c.772+2_3delTG (5/3), p.Phe710del (4/2), p.Lys754Asnfs (2/1), and p.Arg50* (1/1). A molecular diagnostic flowchart is proposed for the McArdle patients in Turkey, covering the 6 most common PYGM mutations found in Turkey as well as the most common mutation in Europe. The diagnostic algorithm may alleviate the need for muscle biopsies in 77.6% of future patients. A prevalence of any of the mutations to a geographical region in Turkey was not identified. Furthermore, the NGS approach to sequence the entire PYGM gene was successful in detecting a common missense mutation and discovering novel mutations in this population study.