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5, reinforcing the hypothesis of an underlying strong genetic predisposition. Most pedigrees with familial autoimmunity (38/44, 86.4%) showed multiple autoimmune diseases, all but 2 of them with diabetes mellitus or autoimmune thyroid disease, therefore resembling autoimmune polyendocrine syndromes. Inheritance patterns were diverse, possibly autosomal dominant in 17/44 (38.6%) pedigrees or autosomal recessive in 5/44 (11.4%), and un-defined or complex in 24/44 (54.5%). However, a total of 21/65 (32.3%) patients had no identified family history of autoimmunity. In conclusion, these results suggest a variable and heterogeneous genetic predisposition to GAD65 neurological disorders, possibly involving multiple loci and modes of inheritance with different contribution in each family.

CACNA1A variants underlie three neurological disorders familial hemiplegic migraine type 1 (FHM1), episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6). EEG is applied to study their episodic manifestations, but findings in the intervals did not gain attention up to date.

We analyzed repeated EEG recordings performed between 1994 and 2019 in a large cohort of genetically confirmed CACNA1A patients. EEG findings were compared with those of CACNA1A-negative phenocopies. selleck inhibitor A review of the related literature was performed.

85 EEG recordings from 38 patients (19 EA2, 14 FHM1, 5 SCA6) were analyzed. Baseline EEG was abnormal in 55% of cases (12 EA2, 9 FHM1). The most common finding was a lateralized intermittent slowing, mainly affecting the temporal region. Slowing was more pronounced after a recent attack but was consistently detected in the majority of patients also during the follow-up. Interictal epileptic discharges (IEDs) were detected in eight patients (7 EA2,1 FHM1). EEG abnormalities and especially IEDs were significantly associated with younger age at examination (16 ± 9 vs 43 ± 21years in those without epileptic changes, p = 0.003) and with earlier onset of disease (1 (1-2) vs 12 (5-45) years, p = 0.0009). EEG findings in CACNA1A-negative phenocopies (n = 15) were largely unremarkable (p = 0.03 in the comparison with CACNA1A patients).

EEG abnormalities between attacks are highly prevalent in episodic CACNA1A disorders and especially associated with younger age at examination and earlier disease onset. Our findings underpin an age-dependent effect of CACNA1A variants, with a more severe impairment when P/Q channel dysfunction manifests early in life.

EEG abnormalities between attacks are highly prevalent in episodic CACNA1A disorders and especially associated with younger age at examination and earlier disease onset. Our findings underpin an age-dependent effect of CACNA1A variants, with a more severe impairment when P/Q channel dysfunction manifests early in life.The study aimed to identify the predictors of response to selective serotonin reuptake inhibitors (SSRIs) for 12 weeks in patients with persistent postural-perceptual dizziness (PPPD). Short-term treatment responses were studied in 197 outpatients [127 (64.5%) women, mean age ± SD = 51.7 ± 15.9] diagnosed with PPPD. Clinical and self-rated assessments were analyzed at the baseline and at the end of pharmacotherapy for 12 weeks. Multivariable logistic regression analysis was used to determine the following variables as the potential predictors of treatment response as measured by scoring in clinical global impression-improvement scale (CGI-I) scores age, sex, comorbidity, baseline CGI-S score, Beck Depression Inventory-II score, State-Trait Anxiety Inventory score, Dizziness Handicap Inventory score at the baseline, and prescribed doses of antidepressants or benzodiazepines. The overall response rate to pharmacotherapy was 65.0% (128/197). Female sex and greater disease severity at the baseline (higher CGI-S score) were associated with a better response to the pharmacotherapy. Subgroup analyses by sex identified younger age and lower anxiety as the indicators for better outcomes in men, and absence of comorbidities in women. During the initial assessment, the severity of PPPD was associated with depressive symptoms and subjective functional handicap due to dizziness. The response to pharmacotherapy is favorable in PPPD. Sex, age and initial disease severity are the predictors of the response to SSRIs in patients with PPPD.

Sleep disturbances are common in Parkinson's Disease (PD), with nocturnal akinesia being one of the most burdensome. Levodopa is frequently used in clinical routine to improve nocturnal akinesia, although evidence is not well proven.

We assessed associations of Levodopa intake with quality of sleep and perception of nocturnal akinesia in three PD cohorts, using the Parkinson's Disease Sleep Scale (PDSS-2) in two cohorts and a question on nocturnal immobility in one cohort. In one cohort also objective assessment of mobility during sleep was performed, using mobile health technology.

In an independent analysis of all three cohorts (in total n = 1124 PD patients), patients taking Levodopa CR reported a significantly higher burden by nocturnal akinesia than patients without Levodopa. Higher Levodopa intake and MDS-UPDRS part IV scores (indicating motor fluctuations) predicted worse PDSS-2 and higher subjective nocturnal immobility scores, while disease duration and severity were not predictive. Levodopa induring sleep. PD patients with motor fluctuations may be particularly affected by subjective perception of nocturnal mobility. This study should motivate further pathophysiological and clinical investigations on the cause of perception of immobility during sleep in PD.Traditionally nitrogen transformation in constructed wetlands (CWs) has been attributed to the activities of aerobic autotrophic nitrifiers followed by anoxic heterotrophic denitrifiers. However, the nitrogen balances in such systems are far from being explained as a large fraction of the losses remain unaccounted for. The classical nitrification-denitrification theory has been successfully employed in certain unit processes by culturing fast-growing bacteria, but the CWs offer an ideal environment for slow-growing bacteria that may be beneficially exploited to achieve enhanced nitrogen removal by manipulating the environmental conditions in their favor. In the last three decades, many novel microorganisms have been isolated from CWs that have led to the discovery of some other routes that have made researchers believe could play a significant role in nitrogen transformation processes. The increased understanding of novel discerned pathways like anaerobic ammonium oxidation (ANAMMOX), heterotrophic nitrification and aerobic denitrification, which are mediated by specialized bacteria has indicated that these microorganisms could be enriched by applying selection pressures within CWs for achieving high rates of nitrogen removal.