Behavioral variant of frontotemporal dementia in carriers of biallelic TREM2 variants: cases study.

INTRODUCTION: First reports associated mutations in triggering receptors expressed on myeloid cells 2 (TREM2) with autosomal recessive Nasu-Hakola disease characterized by painful bone cysts and progressive presenile dementia with psychotic symptoms; however, recent TREM2 biallelic rare variants are suggested to be causative also for the behavioral variant of frontotemporal dementia (bvFTD) without bone involvement. MATERIAL AND METHODS: Clinical data of three unrelated bvFTD patients carrying TREM2 biallelic variants were evaluated. All patients underwent neurological, psychiatric, and cognitive evaluation and neuroimaging. A full neuropsychological assessment was performed in two cases. RESULTS: Two patients carried compound heterozygous TREM2 variants, p.R62C and p.T66M, and one carried the homozygous p.D87N variant. Based on all obtained clinical and neuroimaging data, a behavioral variant of frontotemporal dementia was diagnosed in all cases. Their clinical manifestation was typical with neuropsychiatric and cognitive features, without bone abnormalities. CONCLUSIONS: Despite all three subjects partially resembling clinical manifestations of Nasu-Hakola disease with TREM2 mutations, we reveal some distinct features, including age of onset, neuroimaging findings, or disease course.

Characteristics of subjective cognitive decline associated with amyloid positivity.

INTRODUCTION: The evidence for characteristics of persons with subjective cognitive decline (SCD) associated with amyloid positivity is limited. METHODS: In 1640 persons with SCD from 20 Amyloid Biomarker Study cohort, we investigated the associations of SCD-specific characteristics (informant confirmation, domain-specific complaints, concerns, feelings of worse performance) demographics, setting, apolipoprotein E gene (APOE) ε4 carriership, and neuropsychiatric symptoms with amyloid positivity. RESULTS: Between cohorts, amyloid positivity in 70-year-olds varied from 10% to 76%. Only older age, clinical setting, and APOE ε4 carriership showed univariate associations with increased amyloid positivity. After adjusting for these, lower education was also associated with increased amyloid positivity. Only within a research setting, informant-confirmed complaints, memory complaints, attention/concentration complaints, and no depressive symptoms were associated with increased amyloid positivity. Feelings of worse performance were associated with less amyloid positivity at younger ages and more at older ages. DISCUSSION: Next to age, setting, and APOE ε4 carriership, SCD-specific characteristics may facilitate the identification of amyloid-positive individuals.

Depressive symptoms in patients diagnosed with benign prostatic hyperplasia.

BACKGROUND: Symptoms of depression are common in patients diagnosed with benign prostatic hyperplasia (BPH) and are usually a reaction to deterioration of health, severity of lower urinary tract symptoms, and erectile dysfunction. The aim of this observational study was to evaluate the prevalence of depressive symptoms in patients diagnosed with BPH and factors affecting their occurrence in a large Polish cohort. PATIENTS AND METHODS: Four thousand thirty-five men (4,035) diagnosed with BPH participated in the survey (age 65 ± 8 years). The occurrence of symptoms of depression was assessed using the Beck depression inventory, severity of lower urinary tract symptoms (LUTS) on the basis of the international prostate symptoms score, and erectile dysfunction using the international index of erectile function (IIEF-5). RESULTS: Depressive symptoms were found in 22.4% of patients (mild in 20.8% and moderate/severe in 1.6%). Erectile dysfunction was found in 71.9% of patients. Monotherapy for BPH was prescribed to 50.9% of patients (mostly ARA-selective α1-selective alpha-adrenolytic-47.5%), while polytherapy (ARA with a 5-alpha reductase inhibitor-5αRI) to 47.9%. Logistic regression analysis showed a bidirectional relation between the occurrence of depressive symptoms and erectile dysfunction. The occurrence of both depressive symptoms and erectile dysfunction was related to severity of LUTS, nocturia, the use of 5αRI, comorbidity, and sedentary life style. CONCLUSIONS: Prevalence of depressive symptoms in patients diagnosed with BPH is associated with severity of LUTS, erectile dysfunction, nocturia, BPH pharmacotherapy (5αRIs), sedentary life style, and comorbidities including obesity.

Mutations in presenilin 1, presenilin 2 and amyloid precursor protein genes in patients with early-onset Alzheimer's disease in Poland.

Mutations in three causative genes have been identified in patients with an autosomal-dominant form of early-onset Alzheimer's disease (EOAD). To determine the spectrum of mutations in a group consisting of 40 Polish patients with clinically diagnosed familial EOAD and 1 patient with mild cognitive impairment (MCI) and family history of AD, we performed a screening for mutations in the presenilin 1 (PSEN1), presenilin 2 (PSEN2) and amyloid precursor protein (APP) genes. Four previously recognized pathogenic mutations in PSEN1 gene (H163R, M139V) and APP gene (T714A, V715A), and three novel putative mutations in PSEN1 gene (P117R and I213F) and PSEN2 gene (Q228L) were identified. The 34 patients with no mutations detected were older than the patients with mutations. A frequency of APOE4 allele was higher in this group. Frequency of mutations is relatively low (17%), possibly due to used operational definition of a patient with familial EOAD (a patient having at least one relative with early-onset dementia). It could be concluded that screening for mutations in the three genes could be included in a diagnostic program directed at patients with a positive family history or age of onset before 55 years.