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Aquaporin 4 (AQP4), a water channel expressed in astrocytic end feet forming the blood brain barrier, is predominantly expressed in the central nervous system. Cerebrospinal fluid (CSF) AQP4 has now been suggested as a possible fluid biomarker in Alzheimer's disease. [...]

The risk for dementia is to a significant extent driven by potentially modifiable factors. Prevention strategies are increasingly aiming at individually tailored risk reduction approaches, particularly in light of emerging Brain Health Services for dementia prevention (dBHS).The cross-sectional observational study 'Individual Risk Profiling for Alzheimer's and Dementia Prevention' (INSPIRATION) assessed the individual risk factors of 162 participants of the local Cologne Alzheimer Prevention Registry and provided individual feedback on risk profiles during a single visit. [...]

Alu elements are evolutionarily very old primate-specific interspersed repeat elements that constitute ∼11% of the human genome. They are a source of short tandem repeats (STRs), which often expand in size and cause inherited neuromuscular and neurodegenerative disorders. [...]

Long non-coding RNAs (lncRNAs) are emerging as key regulators of brain function, but their contribution to microglial aging and neurodegenerative disease remains largely unknown. Because only 1.5% of the human genome encodes proteins, whereas the vast majority of transcripts belong to the largely unexplored non-coding RNAome, elucidating the functions of non-coding RNAs provides an unprecedented opportunity to expand the space for therapeutic discovery. [...]

The collective dynamics of subcellular biological processes is often difficult to assess experimentally due to the challenges associated with spatial and temporal resolution, labeling, or multiple scattering. X-ray photon correlation spectroscopy is, in principle, well suited to probe collective dynamics by quantifying dispersion relations in complex fluids in general and biomolecular systems in particular. [...]

Patients with implantable cardioverter-defibrillators (ICDs) are vulnerable to psychological distress, including posttraumatic stress disorder (PTSD). Impaired sleep is a hallmark of PTSD, and may also act as a risk factor that maintains or exacerbates PTSD, yet this relationship has not been examined in ICD recipients across different ages. [...]

Sleep disturbances have been associated with Alzheimer's disease (AD), but their relevance in preclinical stages, such as subjective cognitive decline (SCD), and their relationship with brain pathology remain unclear.We used a portable sleep-monitoring headband over four consecutive nights to assess sleep in 19 cognitively unimpaired (CU), 15 SCD, and 20 mild cognitive impairment (MCI) participants with available amyloid positron emission tomography (PET). Linear-mixed-effects models compared sleep parameters across groups, accounting for amyloid burden, age, sex, education, and recording. [...]

This observational case series summarizes clinical experiences with 4-aminopyridine (4-AP) and acetyl-DL-leucine (ADLL) in patients with RFC1-related disorders treated under named patient use conditions. Clinical data from 30 patients treated at four university centers in Germany, Switzerland, and France were analyzed. [...]

Focal transcranial direct current stimulation (tDCS) using center-surround electrode montages enables region-specific cortical targeting, and holds promise for both cognitive neuroscience and clinical interventions. However, systematic examinations of dose-response relationships and their regional differences are lacking, hampering informed selections of suited stimulation parameters. [...]

Neuropsychological deficits have been observed in patients with cerebellar damage, but never thoroughly investigated in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).The goal is the characterization of presence, severity, and profile of neuropsychological deficits in ARSACS using the cerebellar cognitive-affective syndrome (CCAS) scale.Prospective study including a discovery cohort from Saguenay/Canada (n = 31, median [inter-quartile range] age: 57 [54-62] years), and a validation cohort from Tübingen, Germany (n = 17, 35 [21-43] years) with matched controls (n = 19).All ARSACS patients failed in multiple CCAS-related subtests and exceeded cutoffs for 'definite CCAS.' Even the younger validation cohort failed more subtests than controls (5 [3-7] vs. 1 [1-2], P < 0.001) and had lower CCAS total scores (81 [67-86] vs. [...]